ORCID Profile
0000-0002-8176-2730
Current Organisations
Edith Cowan University
,
Murdoch University
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Publisher: BMJ
Date: 20-08-2014
Publisher: Springer Science and Business Media LLC
Date: 10-1994
DOI: 10.1038/NG1094-117
Abstract: An analysis of the world literature on the children of first cousin marriages reveals that the depression of survival in offspring followed from birth (including late miscarriages at about six months gestation or later) to a median age of 10 years is constant (4.4% +/- 4.6) across a wide range of values for population prereproductive mortality. There is thus no evidence for the action of conditional lethals. On the basis of these data, it is calculated that the average human is heterozygous for only 1.4 lethal equivalents capable of acting over this portion of the life cycle. The implications of these results are discussed in the context of genetic counseling, and the biomedical significance of variation in DNA.
Publisher: S. Karger AG
Date: 03-09-2008
DOI: 10.1159/000153428
Abstract: Arab societies are characterized by a wide range of family and social structures, religious and legal conventions, and highly variable economic resources. As might be expected under these circumstances, genetic services cannot readily be devised, delivered, and assessed according to a single model. However, in general terms, the provision of genetic services in Arab communities at all population levels is still inadequate given the prevalence and burden of genetic diseases. Improving this situation calls for major educational efforts that include increasing the genetic literacy of the general public, comprehensive courses and c aigns to familiarize primary health care workers with counseling needs and skills and with referral guidelines for high-risk families, updating medical, nursing, and paramedical curricula to incorporate information on community genetics, and training clinical and laboratory genetic specialists to meet the short- and long-term goals of genetic disease prevention and management.
Publisher: Medknow
Date: 2011
Publisher: Informa UK Limited
Date: 2006
DOI: 10.1080/03014460600882561
Abstract: A survey of the genetic ancestry of 125 Cambodian children resident in Siem Reap province was undertaken, based on eight Y-chromosome binary polymorphisms and sequencing of the mtDNA HV1 region. The data indicated a largely East Asian paternal ancestry and a local Southeast Asian maternal ancestry. The presence of Y-chromosomes P* and R1al* was suggestive of a small but significant Indo-European male ancestral component, which probably reflects the history of Indian, and later European, influences on Cambodia.
Publisher: Elsevier BV
Date: 09-2011
Publisher: Springer Science and Business Media LLC
Date: 09-2010
Publisher: Proceedings of the National Academy of Sciences
Date: 26-01-2010
Abstract: There is little information on inbreeding during the critical early years of human existence. However, given the small founding group sizes and restricted mate choices it seems inevitable that intrafamilial reproduction occurred and the resultant levels of inbreeding would have been substantial. Currently, couples related as second cousins or closer ( F ≥ 0.0156) and their progeny account for an estimated 10.4% of the global population. The highest rates of consanguineous marriage occur in north and sub-Saharan Africa, the Middle East, and west, central, and south Asia. In these regions even couples who regard themselves as unrelated may exhibit high levels of homozygosity, because marriage within clan, tribe, caste, or biraderi boundaries has been a long-established tradition. Mortality in first-cousin progeny is ≈3.5% higher than in nonconsanguineous offspring, although demographic, social, and economic factors can significantly influence the outcome. Improving socioeconomic conditions and better access to health care will impact the effects of consanguinity, with a shift from infant and childhood mortality to extended morbidity. At the same time, a range of primarily social factors, including urbanization, improved female education, and smaller family sizes indicate that the global prevalence of consanguineous unions will decline. This shift in marriage patterns will initially result in decreased homozygosity, accompanied by a reduction in the expression of recessive single-gene disorders. Although the roles of common and rare gene variants in the etiology of complex disease remain contentious, it would be expected that declining consanguinity would also be reflected in reduced prevalence of complex diseases, especially in population isolates.
Publisher: Elsevier BV
Date: 11-2003
DOI: 10.1016/S0091-7435(03)00177-4
Abstract: It is estimated that approximately 50% of women in Australia with intellectual disability will live to 70 years of age and as a result many will fall within the age group at highest risk for breast cancer (50-69 years). Subjects were identified through the Western Australia Disability Services database. To determine the number of women diagnosed with breast cancer during the period 1982-2000, in idual records (n = 2,370) were linked to the Western Australia Cancer Registry and the Mammography Screening Registry. The incidence of breast cancer among women with intellectual disability was 64.0 per 100,000 person-years, by comparison with 146.7 per 100,000 person-years in the general population. The uptake of breast cancer screening was examined in a subgroup of 380 women, 34.7% of whom had used mammographic screening, as opposed to 54.6% screening uptake in the general population. Failure to use screening services was highest in women who were unmarried, and was positively associated with severity of intellectual disability, presence of physical disabilities, and urban residence. The lower incidence of breast cancer in women with intellectual disability may in part be attributable to decreased life expectancy, but it also appears to reflect significant under utilization of the readily available screening services.
Publisher: Springer Science and Business Media LLC
Date: 12-1986
DOI: 10.1038/HDY.1986.136
Abstract: A range of mathematical models and error distributions was used to examine the validity of linear regression methods for the calculation of lethal gene equivalents. Because of the restricted span of inbreeding coefficient F values available in human studies and the limited number of data points, equivalent results were obtained with all combinations tested. It was concluded that linear regressions should be employed only for the detection of significant inbreeding effects in man and that their application to the estimation of lethal gene equivalents was not warranted.
Publisher: Wiley
Date: 08-2001
DOI: 10.1034/J.1399-0004.2001.600201.X
Abstract: Marriage between close biological relatives is generally regarded with suspicion and distaste within Western society, reflecting historical and religious prejudice. By comparison, in many other populations there is a strong preference for consanguineous unions, most frequently contracted between first cousins, and marriage outside the family is perceived as a risky and disruptive option. The increasing importance of the genetic contribution to the overall disease profile in both developed and developing countries has highlighted potential problems associated with detrimental recessive gene expression in consanguineous progeny. This review examines the outcomes of consanguineous unions, with proposals as to how the ongoing preference for consanguinity in many communities can best be accommodated from a clinical genetics perspective.
Publisher: Wiley
Date: 29-11-2006
DOI: 10.1111/J.1365-2788.2005.00770.X
Abstract: An investigation of the clinical morbidity and genetic profiles of in iduals with Prader-Willi syndrome (PWS) in Western Australia (WA) was undertaken as part of a wider study into the effects of intellectual disability (ID) on the life course of in iduals. All persons with a diagnosis of PWS were identified from the records of the Disability Services Commission of WA (DSC). The DSC client files formed the main data source, and were supplemented by information from other state health data sets. The analysis was retrospective and quantitative in nature. A total of 56 in iduals were identified, 10 of whom exhibited normal methylation patterns and so were analysed separately (PWS-like). The ages of the PWS group ranged from 0.9 to 48.3 years, with six persons deceased. Most people with PWS (76%) had mild or moderate ID, and 70% lived in their family home. The birth prevalence of the disorder was 1 in 29 500 births. Respiratory disorders, dentistry and gastrointestinal disorders were common reasons for hospital admission, with epilepsy or convulsions also reported at moderate frequency. The PWS-like group shared many clinical features in common with PWS patients, the principal exceptions being hypotonia and feeding difficulties in infancy. The estimated birth prevalence of PWS was lower than expected however, the case ascertainment method may have excluded some in iduals. Older people with PWS were generally living in sheltered accommodation. As the cohort ages, demand for places in similar accommodation will increase, adding to the existing burden on service providers. Substantial future increases in the use of medical services and hospital-based care also are predicted with the onset of age-associated disorders.
Publisher: Informa UK Limited
Date: 25-03-2016
DOI: 10.3109/09638288.2016.1161838
Abstract: This study investigated two of the stresses experienced by parents caring for offspring with Angelman syndrome (AS) and Prader-Willi syndrome (PWS) in Western Australia, and identified their coping strategies. Parents of 19 offspring with AS and PWS participated in the Family Stress and Coping Interview which provides a stress level score, and a discussion of stressors and coping methods associated with 24 life situations, two of which are reported. All text was examined using directed content analysis. Family carers (14/19) reported high stress associated with the initial diagnosis of AS or PWS in their offspring and finding time for themselves. Stressors identified included lack of quality information about the disorder, time constraints and physical and emotional tiredness. Parents adopted a variety of coping strategies, including learning about the disorder, accepting the situation, seeking instrumental and social supports and dealing with problems. No specific coping strategy was associated with reduced stress. However, parents felt that accurate and timely information during the diagnostic period helped. Parents used family and community support although there were difficulties accessing respite care. It is advised that government agencies, service providers, family members and peer support associations should provide practical and emotional support to assist the parents of offspring with AS and PWS, and indeed any form of intellectual disability, across the lifespan. Implications for Rehabilitation Long-term caring for offspring with AS or PWS can involve considerable stress for parents. Stress has been associated with poorer health outcomes for parental carers. Parents need a variety of practical and emotional supports to cope with stress, including timely access to information.
Publisher: Elsevier BV
Date: 12-2014
Publisher: S. Karger AG
Date: 2002
DOI: 10.1159/000066327
Publisher: Informa UK Limited
Date: 1989
DOI: 10.1080/03014468900000372
Abstract: It has been proposed that cellular ageing may be caused by loss of mitochondrial function due to the action of free radicals. To investigate this hypothesis, antigenic structures of the mitochondrial inner membrane/matrix and of the outer mitochondrial membrane of human diploid fibroblasts were monitored by immunoblotting at four stages during cellular lifespan in vitro. At the same time, specific activities of the enzymes oligomycin-sensitive ATPase (O-S ATPase), malate dehydrogenase (MDH) and glutamate dehydrogenase (GDH) were assayed to assess the functional capacity of cellular oxidative phosphorylation and of the tricarboxylic acid cycle. No changes were found with ageing in inner mitochondrial membrane-associated matrix components, or in the activities of O-S ATPase and MDH. However GDH activity increased significantly with ageing in vitro, possibly indicating greater amino acid utilization for energy production in older cells. There was loss of an outer mitochondrial membrane antigen, of approximate molecular weight 60 kilodaltons (kDa), in the oldest cells tested, which may influence outer membrane transport capacity late in the cellular lifespan. Overall, the results fail to provide support for the hypothesis that ageing primarily results from free radical-induced impairment of mitochondrial function.
Publisher: Elsevier BV
Date: 09-1992
DOI: 10.1016/0921-8734(92)90025-K
Abstract: Current experimental evidence on the role of mitochondrial DNA mutation in ageing is assessed alongside reports implicating other genetic and non-genetic causes, including inter-relationships between the mitochondrial and nuclear genomes and their potential effect on mitochondrial structure and function. The role of a 5-kb mtDNA deletion, identified as age-dependent in a variety of human and other mammalian species, is specifically evaluated in the context of its functional effect in mitotic and non-mitotic adult tissue. Downstream effects of mitochondrial decline are considered in terms of the maintenance of ATP production. Associated sequelae then are discussed specifically with reference to restrictions in the supply of ribose moieties for DNA and RNA synthesis, and to disruption of NADPH production and hence cellular anti-oxidant defences.
Publisher: Oxford University Press (OUP)
Date: 13-02-2007
Abstract: Down syndrome (DS) affects approximately 1 per 650-1000 live births and is the most common known genetic cause of intellectual disability. A highly significant change in the survival of people with DS has occurred during the last two generations, with life expectancy estimates increasing from 12 to nearly 60 years of age. Detailed information on 1332 people in Western Australia with DS was abstracted from a specialist statewide database for the period 1953-2000 and electronically linked with three other state or national health and mortality data sources and the state Birth Defects Registry. Over the last 25 years the percentage of women over 35 years giving birth increased from 4.8 to 18.6%, accompanied by an increase in the overall prevalence of DS from 1.1 to 2.9 per 1000 births. Four life stages of DS were identified: prenatal, childhood and early adulthood, adulthood, and senescence. Although pneumonia, or other types of respiratory infections, was the most common cause of death across the entire lifespan, ranging from 23% of deaths in adulthood to 40% in senescence, each life stage exhibited a particular profile of comorbidities. Congenital heart defects were common causes in childhood (13%) and adulthood (23%), whereas in senescence coronary artery disease (10%) and cardiac, renal, and respiratory failure (9%) were leading causes of mortality. A major re-appraisal in attitudes towards DS is required to ensure that the medical and social needs of people with the disorder are adequately met across their entire lifespan. In particular, specific recognition of the comorbidities that can arise at different ages is needed, accompanied by the provision of appropriate levels of care and management.
Publisher: Cambridge University Press (CUP)
Date: 04-1998
DOI: 10.1017/S0021932098002776
Abstract: The eleventh Annual Workshop of the Biosocial Society will be held on Friday 8 May 1998 from 10.00 to 16.00 hours at the Department of Biological Anthropology, University of Cambridge, Downing Street, Cambridge.
Publisher: Informa UK Limited
Date: 12-1993
Publisher: Springer Science and Business Media LLC
Date: 03-2010
Publisher: Wiley
Date: 11-2001
DOI: 10.1002/AJHB.1124
Abstract: Empirical information from studies conducted in Pakistan has indicated a high level of offspring mortality that can be attributed to parental consanguinity even when non-biological variables are controlled. However, with the exception of some small and geographically restricted studies, few comparable data are available on the influence of inbreeding in child survival among the Muslim population of India, which numbers between 100 and 120 million. The present study compares deaths during the first 5 years of life among the offspring of first cousin (F = 0.0625) and non-consanguineous unions (F = 0), using data collected in the 1992-1993 Indian National Family Health Survey (NFHS) and the 1990-1991 Pakistan Demographic and Health Survey (PDHS). The focus was on determinants of mortality in live-born children to age 5 years. In both countries, bivariate analyses indicated that mortality was significantly increased in the offspring of first cousin unions during the neonatal and post-neonatal, total infant, and under-5 year periods. The findings were confirmed by multivariate regression, which incorporated control for a range of biological and demographic factors.
Publisher: Oxford University Press (OUP)
Date: 1993
DOI: 10.1093/IJE/22.3.463
Abstract: To determine the prevalence of consanguineous marriages and estimate the effects of consanguinity on reproductive behaviour and mortality, household and hospital-based surveys were conducted in 11 cities in the Pakistan province of Punjab between 1979 and 1985. The 9520 women interviewed reported 44,474 pregnancies, with data collected on maternal and paternal ages at marriage, abortions/miscarriages, stillbirths and deaths in the first month, at 2-12 months and 2-8/10 years. Six categories of consanguineous marriage were included: double first cousin, first cousin, first cousin once removed/double second cousin, second cousin, bradari (brotherhood) and non-consanguineous. Marriages contracted between spouses related as second cousins or closer accounted for 50.3% of the total, equivalent to an average coefficient of kinship (alpha = sigma piFi) of 0.0280. Unions between close biological relatives were characterized by younger maternal and paternal ages at marriage and reduced spousal age difference, but a longer time to first delivery. Overall, they exhibited greater fertility than non-consanguineous couples. Antenatal and postnatal mortality were assessed by consanguinity and age interval. Consanguinity-associated deaths were consistently higher in the neonatal, infant and childhood periods. The consequences of these outcomes on the health of the present and future generations is assessed.
Publisher: Elsevier BV
Date: 10-1991
DOI: 10.1016/0140-6736(91)91828-I
Abstract: An outbreak of brucellosis caused by Brucella abortus biovar 2 was identified in cattle in Alberta in December 1986. This was the only clinical infection discovered since the national cattle herd was declared brucellosisfree in 1985. It was the first report of B. abortus biovar 2 in Canadian cattle. The outbreak, involving three herds containing purebred Hereford cattle, was spread by the private treaty sale of untested cattle, and was identified following investigation of an abortion. The source of infection for the outbreak was not established, but several possibilities were identified including infected herds present in the area during the mid-1970's, latent infection originating in a Saskatchewan herd during the early 1960's, American cattle imported during the early 1970's, and brucellosis-infected bison in Wood Buffalo National Park. The containment and elimination of this nidus of infection appears to have been successful, and the national cattle herd at the time of writing is free of the disease.
Publisher: Japan Society of Physiological Anthropology
Date: 2007
DOI: 10.2114/JPA2.26.77
Abstract: Initial physical anthropology studies into ethnic ersity were largely dependent on comparative whole body and craniometric measurements, and through time assessments of ethnic ersity based on these measures exhibited increasing statistical sophistication. Since the 1990s, in Asia as elsewhere in the world, human ersity studies have increasingly utilized DNA-based analyses, with Y-chromosome and mtDNA markers providing complementary perspectives on the origins and gene pool structures of different ethnic groups. This approach is illustrated in a study of population genetic structure in PR China, in which DNA s les from the Han majority and eight ethnic minorities were analyzed. The Y-chromosome and mtDNA data showed multiple paternal geographical and ethnic origins but restricted maternal ancestries. However, interpretive problems were apparent in the definition of a number of the ethnic study populations, which appear to reflect political as well as genetic influences. In all anthropological studies, whether based on anthropometry or genomic analysis, unambiguous and appropriate community identification is a prerequisite.
Publisher: Wiley
Date: 04-2002
Abstract: The objective of this document is to provide recommendations for genetic counseling and screening for consanguineous couples (related as second cousins or closer) and their offspring with the goals of 1. providing preconception reproductive options 2. improving pregnancy outcome and identifying reproductive choices 3. reducing morbidity and mortality in the 1st years of life, and 4. respecting psychosocial and multicultural issues. The recommendations are the opinions of a multicenter working group (the Consanguinity Working Group (CWG)) with expertise in genetic counseling, medical genetics, biochemical genetics, genetic epidemiology, pediatrics, perinatology, and public health genetics, which was convened by the National Society of Genetic Counselors (NSGC). The consensus of the CWG and NSGC reviewers is that beyond a thorough medical family history with follow‐up of significant findings, no additional preconception screening is recommended for consanguineous couples. Consanguineous couples should be offered similar genetic screening as suggested for any couple of their ethnic group. During pregnancy, consanguineous couples should be offered maternal–fetal serum marker screening and high‐resolution fetal ultrasonography. Newborns should be screened for impaired hearing and detection of treatable inborn errors of metabolism. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. The professional judgment of a health care provider, familiar with the facts and circumstances of a specific case, will always supersede these recommendations.
Publisher: Springer Science and Business Media LLC
Date: 12-2004
DOI: 10.1007/S10552-004-1256-0
Abstract: During the last 50 years there have been significant improvements in life expectancy among people with intellectual disability (ID), and so their incidence of age-associated diseases, such as cancer, is rising. The aim of this study was to compare the rate of cancer in people with ID with that found in the general population. Information on 9409 in iduals registered with the Disability Services Commission of Western Australia was linked to the State Cancer Registry, with 200 cases of cancer detected over 156,729 person-years. Standardised incidence ratios (SIRs) and 95% confidence intervals were calculated for both sexes separately by 5-year age groups for the period 1982-2001. The same procedures were adopted in the estimation of SIRs for specific types of cancers. The age-standardised incidence of all cancers in people with ID was not significantly different from the general population. However, males with ID were observed to have a significantly increased risk of leukaemia, brain and stomach cancers, and a reduced risk of prostate cancer, while leukaemia, corpus uteri and colorectal cancers were significantly higher in females. Health practitioners need to be aware that with improvements in life expectancy the incidence of cancer in people with ID is likely to rise. More proactive health promotion c aigns may be needed for people with ID, who are likely to be poor users of screening services and whose symptoms may not be reported until they are in more advanced, less treatable stages of disease.
Publisher: Elsevier BV
Date: 07-1984
DOI: 10.1016/0047-6374(84)90161-1
Abstract: Six exopeptidases present in human diploid fibroblasts were identified by separation on polyacrylamide gel electrophoresis and their activity profiles against 17 dipeptides, two tripeptides and L-leucine-p-nitroanilide determined. No differences in relative activity or in the electrophoretic patterns of any of the six exopeptidases were detected with ageing. Aminoacylarylamidase activity assayed spectrophotometrically showed significantly increased activity in the middle age-group cells as opposed to the enzyme isolated from young and old cells. Heat-inactivation studies using the same substrate suggested the possibility of an increased proportion of heat-labile enzyme in the old cells but interpretation of the data was difficult because of the complex nature of the inactivation curves obtained. Overall, the results tended to refute the hypothesis that age-related changes in the free amino acid pool of human diploid fibroblasts were associated with significant alterations in the activities of cellular exopeptidases.
Publisher: Springer Science and Business Media LLC
Date: 2009
DOI: 10.1186/GM91
Publisher: Informa UK Limited
Date: 1991
DOI: 10.1080/03014469100001572
Abstract: Data are presented on the ABO and Rh(D) frequencies of 1685 in iduals living in the Ards Peninsula, northeastern Ireland. Previous investigations based on surname analysis and linguistic studies showed a basic north-south population ide that could be traced back at least to the early seventeenth century. The current survey indicates the continuation of this ide, which is coincident with known patterns of religious persuasion.
Publisher: Springer Science and Business Media LLC
Date: 25-07-2020
Publisher: Elsevier BV
Date: 05-2006
Publisher: Springer Berlin Heidelberg
Date: 2010
Publisher: S. Karger AG
Date: 2005
DOI: 10.1159/000084784
Publisher: S. Karger AG
Date: 2005
DOI: 10.1159/000083332
Abstract: Considerable attention is paid to the role of consanguineous marriage as a causative factor in the prevalence of genetic disorders. At the same time, the potential influence of community endogamy on overall levels of homozygosity and disease profiles remains largely under-investigated. With the ongoing global epidemiological transition from infectious to non-communicable disease, the impact of genetic disorders will become increasingly important and a thorough understanding of the determinants of human population-genetic structure will be all the more necessary. In particular, the genetic components of adult-onset diseases will become more obvious and assume greater significance. Similarly, refinements of study design to incorporate intercommunity genetic variation appear to be an essential prerequisite in pharmacogenetic research if the concept of in idualized treatments is to achieve reality, with equivalent subject-control comparison difficulties also predicted in forensic genetics.
Publisher: Elsevier BV
Date: 10-2013
Publisher: Informa UK Limited
Date: 2007
Publisher: Springer Berlin Heidelberg
Date: 2010
Publisher: Springer Science and Business Media LLC
Date: 08-2003
DOI: 10.1007/S00439-003-0948-Y
Abstract: A genome-based investigation of three Muslim populations, the Salar, Bo'an, and Dongxiang, was conducted on 212 in iduals (148 males, 64 females) co-resident in Jishisan County, a minority autonomous region located in the province of Gansu, PR China. The Salar are believed to be of Turkic origin, whereas the Bo'an and Dongxiang both speak Mongolian. Biparental dinucleotide markers on chromosomes 13 and 15 indicated elevated mean homozygosity in the Salar (0.32), Bo'an (0.32), and Dongxiang (0.27), equivalent to inbreeding coefficients ( F(is) ) of 0.16 0.12 0.01, confirming varying levels of endogamous and consanguineous marriage in all three communities. Y-chromosome unique event polymorphisms (UEPs) showed that males in the three communities shared common ancient origins, with 80-90% of haplotypes in common. However, the high levels of community-specific Y-chromosome STR haplotypes strongly suggested the action(s) of founder effect, genetic drift and preferential consanguinity during more recent historical time. By comparison with the marked inter-community differentiation revealed by the Y-chromosome STRs (29.4%), the mtDNA data indicated similarity between the female lineages of each community with just 1.2% inter-community variation. The combined use of these different marker systems gives an in-depth historical perspective, and provides evidence of past inter-marriage between genetically erse male founders of each community and Han Chinese females with subsequent community endogamy.
Publisher: Cambridge University Press (CUP)
Date: 08-10-2014
DOI: 10.1017/S0021932013000552
Abstract: Information on the current prevalence and types of consanguineous marriages in Malakand District, Khyber Pakhtunkhwa Province (KPK), Pakistan, was collected from 1192 rural couples. Some 66.4% of marriages were between couples related as second cousins or closer ( F ≥0.0156), equivalent to a mean coefficient of inbreeding ( α ) of 0.0338. The data suggest that the prevalence of consanguineous unions in Malakand has been increasing during the last decade, in response to the high levels of violence across KPK.
Publisher: S. Karger AG
Date: 2014
DOI: 10.1159/000363352
Publisher: S. Karger AG
Date: 2008
DOI: 10.1159/000133304
Abstract: Consanguineous marriage has long been a controversial topic, with particular attention focused on adverse health outcomes. Unfortunately, the studies that have been conducted on consanguinity to date have usually lacked control for important sociodemographic variables, such as maternal age and birth intervals, and in estimating specific disease gene frequency, they have ignored the influence of population sub- ision. Inadequate attention has also been paid to the social benefits associated with intra-familial marriage, resulting in a biased overall cost-benefit assessment. Worldwide, some 1,000 million people live in countries where 20 to more than 50% of marriages are consanguineous, and large migrant communities from these regions are now resident in Western Europe, North America and Oceania. The need for comprehensive and more balanced investigations into all aspects of consanguineous marriage is pressing and merits a substantial international collaborative research effort.
Publisher: SAGE Publications
Date: 21-03-2013
Publisher: Wiley
Date: 09-04-2012
DOI: 10.1002/AJMG.A.35272
Publisher: Springer Science and Business Media LLC
Date: 10-1996
DOI: 10.1038/NG1096-214
Abstract: Founder effect and linkage disequilibrium have been successfully exploited to map single gene disorders, and the study of isolated populations is emerging as a major approach to the investigation of genetically complex diseases. In the search for genetic isolates ranging from Pacific islands to Middle East deserts, the 10 million Gypsies resident in Europe have largely escaped the attention of geneticists. Because of their geographical ubiquity, lack of written history and the presumed social and cultural nature of their isolation, Gypsies are construed as not meeting the criteria for a well defined founder population. Gypsy society has a complex structure with sub isions and stratifications that are incomprehensible to the surrounding populations. Marginalization by the health care systems in most countries results in a lack of information on causes of morbidity and mortality and little is known about hereditary disorders or the population genetic characteristics of Gypsies. This study is the first ex le of mapping a disease gene in endogamous Gypsy groups. Using lod score analysis and linkage disequilibrium, we have located a novel demyelinating neuropathy to a narrow interval on chromosome 8q24. We show that the disease, occurring in Gypsy groups of different identity and history of migrations, is caused by a single mutation whose origin predates the ergence of these groups.
Publisher: Wiley
Date: 03-1997
Publisher: Portland Press Ltd.
Date: 09-1984
DOI: 10.1007/BF01128816
Abstract: With increasing population doubling in vitro, human diploid fibroblasts exhibited a highly significant increase in glucose uptake from the growth medium and a corresponding increase in lactate production. The switch to glycolysis occurred prior to the onset of changes in intracellular glucose and lactate concentrations or in the specific activity of the glycolytic regulatory enzyme, pyruvate kinase, it also preceded the morphological alterations held to be characteristic of cellular senescence.
Publisher: Elsevier BV
Date: 07-2013
DOI: 10.1016/J.IJPORL.2013.04.001
Abstract: There are many hearing impaired in iduals in Monte Santo, a rural municipality in the state of Bahia, Brazil, including multiple familial cases strongly suggestive of a genetic aetiology. The present study investigated 81 subjects with hearing impairment (HI) recruited from 36 families. Mutations often associated with HI, i.e. the DFNB1 mutations c.35delG in GJB2, deletions del(GJB6-D13S1830) and del(GJB6-D13S1854), and A1555G in the mitochondrial gene MTRNR1 were initially analyzed, with additional mutations in GJB2 identified by sequencing the coding region of the gene. Seven different mutations were present in GJB2 with mutations c.35delG and p.Arg75Gln, which are known to be pathogenic, identified in 37.0% of the subjects. In iduals homozygous for the c.35delG mutation were diagnosed in eight families, corresponding to 24.7% of unrelated in iduals with nonsyndromic hearing impairment (NSHI), and an additional heterozygote for this mutation was present in a single family. Ten in iduals (12.4%) in another family were heterozygous for the mutation p.Arg75Gln. Significant heterogeneity was observed in the alleles and patterns of NSHI inheritance among the subjects studied, probably due to the extensive inter-ethnic admixture that characterizes the peoples of Brazil, together with a high prevalence of community endogamy and consanguineous marriage.
Publisher: Informa UK Limited
Date: 2006
DOI: 10.1080/09638280500190631
Abstract: To investigate the incidence, clinical presentation and associated comorbidities of Angelman syndrome (AS) in Western Australia, with establishment of an information database for the disorder. Data were collected from Disability Services Commission files, supplemented by datasets provided by the Western Australian Data Linkage Unit. The analysis was retrospective and quantitative. Thirty-four in iduals (two deceased) were identified (19 F, 15 M), with a mean age of 21.6 years 52.9% had an IQ < 40, with the remainder of IQ 40-69. The incidence was one in 40,000 births and mean age at diagnosis was 5.8 years. The mean age of the 23 home residents was 20.2 years compared to 27.9 years in the nine in iduals in sheltered accommodation. In general, the patients exhibited a typical AS clinical presentation. A median of 5.5 (range 0-20) hospital admissions was recorded per person, with epilepsy, gastrointestinal disorders, and dental work all common reasons for admission. The estimated incidence was low compared to other reports, as was the proportion of IQ < 40. AS cases required substantial levels of medical care, especially those who were epileptic. An increase in the future numbers of AS patients needing sheltered accommodation is predicted.
Publisher: Elsevier BV
Date: 07-2001
DOI: 10.1016/S0379-0738(00)00442-4
Abstract: In many indigenous minority populations, and among migrants from Asian and African populations now resident in western Europe, North America and Australia, there is a strong tradition of endogamy and a preference for consanguineous unions. These marriage practices can result in F(ST) values greatly in excess of the maximum value (0.01) currently recommended for forensic DNA purposes under guidelines established by the National Research Council (NRC) of the USA. To examine the possible extent of deviation from this accepted norm, three co-resident Pakistani communities were studied using 10 autosomal dinucleotide markers and six tetranucleotide markers on the Y-chromosome. The mean population sub ision coefficient (FST) value was 0.13 for the autosomal loci, and Y-chromosome loci exhibited even stronger differentiation with unique alleles identified in all three communities. The data indicate that even when sub-populations are virtually indistinguishable in terms of anthropology, geography, ethnicity or culture, they may still exhibit major genetic differentiation. Where significant population stratification is known to exist, more detailed genetic databases should be developed for forensic DNA purposes, based on reference data from each of the appropriate sub-populations and not on random or combined s les.
Publisher: Informa UK Limited
Date: 1988
DOI: 10.1080/03014468800000062
Abstract: Consanguineous marriages are strongly favoured in the state of Karnataka. Of 65,492 marriages studied 33.07% were consanguineous, equivalent to a coefficient of inbreeding (F) of 0.0298. The twinning rate was low, 6.9 per thousand, whereas the secondary sex ratio, 0.5221, was higher than in comparable major human populations. Consanguinity exerted no significant effect on either parameter. The results also indicate that consanguinity is not associated with excess antenatal losses and suggest the possibility of enhanced selection against mutations at X chromosome loci.
Publisher: Wiley
Date: 11-2002
DOI: 10.1034/J.1399-0004.2002.620506.X
Abstract: Cohort studies have indicated that the survival of in iduals with Down's syndrome has dramatically increased over the past 50 years. Early childhood survival in particular has shown major improvement, due largely to advances in cardiac surgery and in general health management. The present study was based on a continuous cohort of 1332 people with Down's syndrome in Western Australia, registered for intellectual disability services between 1953 and 2000. Their life expectancy was 58.6 years, 25% lived to 62.9 years, and the oldest living person is 73 years of age. Life expectancy for males was greater than females by 3.3 years. The substantial increase in survival across the study period means that the life expectancy of people with Down's syndrome is approaching that of the general population, but accompanied by a range of significant mid-life health problems. The findings are of relevance to all developed countries and have considerable implications in terms of the counselling information provided to families at risk of having a child with Down's syndrome.
Publisher: Wiley
Date: 30-06-2005
DOI: 10.1111/J.1365-2788.2005.00722.X
Abstract: The health and well-being of Indigenous people is a significant global problem, and Aboriginal Australians suffer from a considerably higher burden of disease and lower life expectancy than the non-Indigenous population. Intellectual disability (ID) can further compromise health, but there is little information that documents the prevalence of ID among indigenous populations. This study provides information on ID among the Aboriginal population of Western Australia. The Disability Services Commission (DSC) of Western Australia has maintained a statewide database of people with ID since 1953. Data on people of Aboriginal descent were extracted from the DSC database and linked to two other state-based databases, the Hospital Morbidity Data System and the Deaths Registry, with additional linkage to the National Death Index. The linked data were used to assess the prevalence, survival patterns and causes of death in Aboriginal people with ID. Although comprising 3.5% of the population, Aboriginal Australians represented 7.4% of all people registered for ID services. The level of ID was assessed as borderline or mild in 40.7% of cases, moderate in 19.9%, severe or profound in 12.1%, but had not been specified in 27.2% cases. Median survival was 55.1 years for men and 64.0 years for women, with a mean age at death (n = 102) of 19.6 years. The leading causes of death were respiratory diseases, diseases of the circulatory system, and accidents. The study presents unique population summary data for ID in the Aboriginal community of Western Australia. To provide appropriate prevention and intervention strategies, there is an urgent need for more detailed information on the prevalence and patterns of ID.
Publisher: Cambridge University Press (CUP)
Date: 17-02-2004
DOI: 10.1017/S0021932003006230
Abstract: The effects of religion, population sub- ision and geography on the prevalence of deaf-mutism were investigated using information collected in the 1921 Census of Punjab. The total s le size was 9·36 million, and comprised data on thirteen Hindu castes, seventeen Muslim biraderis and two Sikh castes. A two-way analysis of variance comparing males in Hindu castes in which consanguineous marriage was prohibited, with males in Muslim biraderis which favoured first cousin marriage, indicated major differences with respect to the patterns of deaf-mutism within each religion. In the Muslim population 9·1% of the relative variation in the prevalence of deaf-mutism was inter- biraderi , 36·8% between geographical regions, and 48·8% an interaction between biraderi and region, whereas among Hindus 46·8% of the observed variation was inter-caste, 12·8% inter-region and 33·6% due to caste–region interaction. From a wider disease perspective the results obtained with the Hindu community indicate the significant genetic differentiation associated with caste endogamy. As the overwhelming majority of Hindu marriages continue to be within-caste, it can be predicted that similar levels of inter-caste differences in disease frequency currently exist. By comparison, the lower level of inter- biraderi variation among Muslims is probably indicative of the dissolution of pre-existing caste boundaries and the resultant gene pool mixing that followed the large-scale conversion of Hindus to Islam during Muslim rule in North India from the 13th to the 19th centuries.
Publisher: Informa UK Limited
Date: 1991
DOI: 10.1080/03014469100001832
Abstract: The effects of consanguinity on gestational period and anthropometric measurements at birth were assessed in a group of 662 babies delivered in Lahore, Pakistan. Regression analysis revealed consanguinity-related declines in birthweight, recumbent length, head circumference and chest girth and in gestational period. Considered in combination with a recent report from the region linking inbreeding effects to neonatal and childhood mortality, the data suggest that the widely favoured practice among Pakistanis, at home and abroad, of marriage between close relatives may be a contributory factor in their comparatively unfavourable health profile.
Publisher: Wiley
Date: 19-03-2013
DOI: 10.1111/JIR.12026
Abstract: Major increases in the survival of people with Down syndrome during the last two generations have resulted in extended periods of adulthood requiring specialist care, which in turn necessitates greater understanding of the nature, timing and impact of comorbidities associated with the disorder. The prevalence of five comorbidities reported as common in adults with Down syndrome, visual impairment, hearing impairment, epilepsy, thyroid disorders and dementia was assessed by decade of life. From early adulthood, people with Down syndrome are at enhanced risk of developing new comorbidities and they may present with multiple conditions. Three specific challenges are identified and discussed: are comorbidities detected in a timely manner, is the clinical progress of the disorder adequately understood, and who is responsible for the provision of care? Further detailed investigations into the development and treatment of comorbidities across the lifespan are needed for a successful longitudinal approach to healthcare in people with Down syndrome. Implementation of this approach will better inform healthcare providers to ensure continuity of care with advancing age.
Publisher: Cambridge University Press (CUP)
Date: 28-12-2015
DOI: 10.1017/S0021932015000449
Abstract: Consanguineous marriage is a controversial topic in many Western societies, with attention mainly focused on the health of immigrant communities from Asia and Africa. In the UK consanguinity is especially prevalent in the Pakistani community, which now numbers over 1.1 million. Less attention has been paid to the influence of hereditary population stratification within Pakistani communities, in particular biraderi (literally brotherhood) membership, which denotes male lineages that largely govern marriage partner choice and hence the transmission of disease genes. The various roles played by biraderi and their relationship to other socio-occupational and kinship terms, such as caste, quom and zat , are often overlooked in health-based studies. The interchangeable use of these different kinship terms without rigorous definition can create identity uncertainty and hinders inter-study comparisons. Where feasible, standardization of terminology would be both desirable and beneficial, with biraderi the preferred default term to identify specific social and genetic relationships within the Pakistani diaspora.
Publisher: Springer Science and Business Media LLC
Date: 12-2009
DOI: 10.1007/S11568-010-9132-3
Abstract: Thalassaemia and sickle cell disease have been recognized by the World Health Organization as important inherited disorders principally impacting on the populations of low income countries. To create a national and regional profile of β-thalassaemia mutations in the population of India, a meta-analysis was conducted on 17 selected studies comprising 8,505 alleles and offering near-national coverage for the disease. At the national level 52 mutations accounted for 97.5% of all β-thalassaemia alleles, with IVSI-5(G C) the most common disease allele (54.7%). Population stratification was apparent in the mutation profiles at regional level with, for ex le, the prevalence of IVSI-5(G C) varying from 44.8% in the North to 71.4% in the East. A number of major mutations, such as Poly A(T C), were apparently restricted to a particular region of the country, although these findings may in part reflect the variant test protocols adopted by different centres. Given the size and genetic complexity of the Indian population, and with specific mutations for β-thalassaemia known to be strongly associated with in idual communities, comprehensive disease registries need to be compiled at state, district and community levels to ensure the efficacy of genetic education, screening and counselling programmes. At the same, time appropriately designed community-based studies are required as a health priority to correct earlier s ling inequities which resulted in the under-representation of many communities, in particular rural and socioeconomically under-privileged groups.
Publisher: Informa UK Limited
Date: 1990
DOI: 10.1080/03014469000000842
Abstract: A retrospective study was conducted on spousal age at marriage, time to first birth and total pregnancies in the populations of seven cities in the Pakistani province of Punjab. Consanguineous marriages were strongly favoured with coefficients of inbreeding (F) for the present generation ranging from 0.0236 to 0.0286. Male and female ages at marriage were younger in consanguineous unions and spousal age differences smaller than in their non-consanguineous counterparts. Time elapsed from marriage to first birth tended to be longer in consanguineous unions but, in general, they had more pregnancies. As consanguinity has been shown to be associated with increased ante- and postnatal mortality in these communities, reproductive compensation provides a credible explanation for the apparent enhanced fertility with inbreeding. However, the data equally could be interpreted in terms of greater reproductive span and/or biosocial compatibility of the consanguineous unions.
Publisher: Wiley
Date: 22-11-2005
DOI: 10.1002/AJMG.A.30432
Abstract: Consanguineous marriage is rare in most Western countries and, for ex le, in the USA it may be subject to regulation by both civil legislation and religious prescription. This is not the case in many regions of Asia and Africa where marriage within the family is strongly favored. Since the 1970s there has been widespread migration to North America, Western Europe, and Australasia from communities which encourage consanguineous marriage. To assess the effect of this trend on a genetic counseling program, the records of 302 couples referred to Genetic Services of Western Australia for consanguinity counseling were abstracted for the period 1975-2001. Overall, a family history of genetic disease or a previously affected child was reported in 28.8% of cases. Premarital or prepregnancy counseling on grounds of consanguinity was sought by 41.0% of couples, and a further 18.2% of consanguineous couples had been referred because of a consanguineous pregnancy. In 7.6% of cases a relationship closer than first cousin was involved. Through time there was a significant increase in the numbers of consanguineous consultants, and their patterns of religious affiliation and ethnic origin widened markedly. Although effectively excluded from entry to Australia prior to 1975, couples of Asian origin accounted for 25.5% of all consanguineous consultants. With ongoing migration, changes in the ethnic profiles and the specific counseling requirements of consanguineous couples can be expected to continue and probably accelerate.
Publisher: Wiley
Date: 22-01-2013
DOI: 10.1007/S10897-013-9570-X
Abstract: Brazil is the largest country in Latin America, with an ethnically erse, Portuguese-speaking and predominantly Roman Catholic population of some 194 million. Universal health care is provided under the Federal Unified Health System (Sistema Único de Saúde) but, as in many other middle and low income countries, access to medical genetics services is limited in rural and remote regions of the country. Since there is no formally recognized Genetic Counseling profession, genetic counseling is provided by physicians, trained either in medical genetics or a related clinical discipline. A comprehensive medical genetics program has been established in Monte Santo, an inland rural community located in the state of Bahia in Northeast Brazil, with high prevalences of a number of autosomal recessive genetic disorders, including non-syndromic deafness, phenyketonuria, congenital hypothyroidism and mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). Genetic education, counseling and treatment are locally provided, with a neonatal screening program for MPSVI currently under trial.
Publisher: Informa UK Limited
Date: 03-2005
Publisher: Cambridge University Press (CUP)
Date: 15-06-2016
Publisher: Wiley
Date: 27-02-2003
DOI: 10.1002/AJHB.10132
Abstract: In virtually all countries life expectancy is longer in females than in males. A multigeneration, population-based dataset was used to investigate whether a gender-specific difference in life expectancy could be determined in a large cohort (n = 1,332) of people with Down syndrome resident in Western Australia. Contrary to the established pattern of longevity in the general population, and in most people with intellectual disability, males with Down syndrome had a significantly greater life expectancy than females with the same disorder. The reasons for this atypical finding are discussed in terms of the patterns of morbidity experienced by people with Down syndrome, especially at early and late stages of their lifespan.
Publisher: Cambridge University Press (CUP)
Date: 22-03-2011
DOI: 10.1017/S0021932011000125
Abstract: Most studies on consanguinity have been conducted on contemporary populations and have focused on the prevalence and types of preferred intra-familial marriage. With its comprehensive birth, marriage and deaths records dating back to the late 17th century, and the legal bar on first cousin marriage removed in the mid-19th century, Sweden offers unique opportunities to examine the factors that determine by whom, where and why consanguineous marriages were contracted. The present study covers the period 1780–1899 and presents a detailed portrait of cousin and sibling exchange marriages in the Skellefteå region of northern coastal Sweden. The combined prevalence of first, second and third cousin marriage increased from 2.3% in 1790–1810 to 8.8% in 1880–1899, and multi-generation consanguinity also increased significantly over the study period. The distribution and prevalence of first cousin marriages was strikingly non-random, with a significantly greater propensity for consanguinity among land-owning families, especially involving first-born sons, within specific pedigrees, and in a number of more remote inland communities. Additional factors associated with a greater likelihood of consanguineous marriage included physical or mental disability among males, and among females the prior birth of an illegitimate child. Besides the inherent interest in the social and demographic structure of this region of northern Sweden during the course of the 19th century, in future studies it will be important to determine the degree to which the observed patterns of consanguineous and sibling exchange marriages in these past generations could have influenced present-day genetic structure.
Publisher: S. Karger AG
Date: 2001
DOI: 10.1159/000051166
Abstract: i Objective: /i To determine the current prevalence of consanguineous marriage in Western Australia, as a means of assessing the associated requirement for genetic counselling services. i Subjects and Methods: /i The records of all intended marriages in Western Australia were examined over a 6-year period (1994–1999), with the numbers and types of consanguineous unions collated and analysed by year, current domicile and countries of origin. i Results and Conclusions: /i Of the 62,549 proposed marriages, 144 (0.23%) were between couples who identified themselves as biological relatives, 82 (0.13%) of whom were first cousins. The mean coefficient of inbreeding α for the total s le was 0.00009. In 75.7% of cases either one or both of the partners had been born outside Australia. Given the patterns of recent migration to Australia, it is suggested that these figures should be treated as minimal estimates of the actual levels of consanguinity in the population.
Publisher: Informa UK Limited
Date: 1989
Publisher: Informa UK Limited
Date: 2002
DOI: 10.1080/03014460110075657
Abstract: In most Western countries there is a widespread belief, fostered in part by historical prejudice and religious proscription, that inbreeding in human populations causes a reduction in fertility. Support for this belief has been claimed in HLA-based studies, with increased rates of fetal losses suggested in HLA-compatible unions. To critically assess the overall status of fertility in consanguineous unions, data on 30 populations resident in six countries were collated from a systematic review of the literature. The mean numbers of live births were then compared in four consanguinity test categories, ranging from second cousin to uncle-niece/double first cousin, and corresponding non-consanguineous reference groups. Linear regressions indicated a positive association between consanguinity and fertility at all levels of inbreeding, attaining statistical significance at first cousin level (p < 0.0001). The results were, however, subject to a number of potential limitations, in particular lack of control for important socio-demographic variables. To overcome this problem, data on first cousin marriages were abstracted from the National Family and Health Survey conducted in India during 1992-1993. Multivariate analysis showed that fertility in first cousin unions was positively influenced by a number of variables, including illiteracy, earlier age at marriage and lower contraceptive uptake, but the most important of these parameters were duration of marriage and reproductive compensation. In net terms, consanguinity was not found to be associated either with a significant positive or negative effect on fertility.
Publisher: S. Karger AG
Date: 2011
DOI: 10.1159/000321772
Publisher: Springer Science and Business Media LLC
Date: 1999
Abstract: The present study evaluated the proportions of X-bearing and Y-bearing sperm within the semen of donors who were the declared fathers of three or more sons or daughters. The proportions of sperm were determined using dual-color fluorescence in situ hybridization to identify the X and Y chromosomes. The only difference observed was in semen volume. There was no increase in the proportion of Y-bearing sperm for men with only sons (49.7 +/- 1.3%) or of X-bearing sperm for men with only daughters (44.8 +/- 2.6%). A preponderance of either sons or daughters in a family cannot be explained simply by an altered ratio of X-bearing and Y-bearing sperm in the father's semen.
Publisher: Cambridge University Press (CUP)
Date: 04-1998
DOI: 10.1017/S0021932098002612
Abstract: Consanguineous marriages are strongly preferred in much of West and South Asia. This paper examines the prevalence and sociodemographic correlates of consanguineous unions in Pakistan using local and national data. Information from 1011 ever-married women living in four multi-ethnic and multi-lingual squatter settlements of Karachi, the main commercial centre of the country, are compared with data from the national 1990/91 Pakistan Demographic and Health Survey (PDHS), based on information provided by 6611 women. Both sets of results indicate that approximately 60% of marriages were consanguineous, over 80% of which were between first cousins. The mean coefficients of inbreeding ( F ) in the present generation were 0·0316 and 0·0331 for the Karachi and PDHS data respectively. In both surveys the prevalence of consanguineous unions appeared to be unchanged over the past three to four decades. Consanguineous unions were more common among women who were illiterate or had only primary level education, were first or second generation migrants from rural areas of Pakistan or, in the PDHS, lived in rural areas, and whose parents were also consanguineously married.
Publisher: Wiley
Date: 10-2002
Publisher: Informa UK Limited
Date: 1986
DOI: 10.1080/03014468600008641
Abstract: Using censal data, the population structure of the Ards Peninsula, Co. Down was investigated from 1841 to 1911. During the study period there were highly significant declines at townland level in the mean total population, population density, number and proportion of inhabited houses, household size and deviations in the male/female ratio. The potential genetic effects of the changes, mediated via reduced effective population sizes, were exacerbated by marked differences in the patterns of population structure variation by religion. It is suggested that the current high incidence of recessive genetic disorders in the Northern Irish can be ascribed, at least in part, to these post-Famine events.
Publisher: Informa UK Limited
Date: 2006
DOI: 10.1080/03630260600868071
Abstract: Blood counts, hemoglobin (Hb) high performance liquid chromatography (HPLC), and DNA analyses were performed on 260 children, aged 5 months to 16 years, at Siem Reap to assess the prevalence of thalassemia and other hemoglobinopathies in regional Cambodia. Hemoglobinopathies were present in 134 children (51.5%) with 20 abnormal genotypes identified. alpha-Thalassemia (thal) (35.4%) was the most prevalent disorder and the -alpha3.7 gene deletion was the most common alpha-globin gene abnormality. The - -SEA deletion and nondeletional forms of alpha-thal, Hb Constant Spring [Hb CS, alpha142, Term-->Gln, TAA-->CAA (alpha2)], Hb Paksé [alpha142, Term-->Tyr, TAA-->TAT (alpha2)] and triplicated alpha genes, were also present but at low frequencies. Hb E [beta26(B8)Glu-->Lys, GAG-->AAG] (28.8%) was the most common beta-globin gene abnormality, whilst beta-thal was only detected in two children (0.8% of cases). Although hemoglobinopathies were common, the majority of abnormalities detected (heterozygous -alpha3.7 and Hb E) were not clinically significant. On the basis of these findings, and with the majority of abnormalities being mild, it seems improbable that thalassemia represents a major health burden in this region of Cambodia.
Publisher: Springer Science and Business Media LLC
Date: 17-06-2003
DOI: 10.1007/S10038-003-0034-2
Abstract: A preliminary Chinese DNA database has been constructed by the analysis of s les from 2,211 Han Chinese in Liaoyang City, northeast China. Thirteen autosomal tetranucleotide short tandem repeats (STRs) widely used in forensic identification were selected for the DNA profiling, together with the X-Y homologous gene Amelogenin for sex determination. Only one of the 13 autosomal loci showed significant deviation from Hardy-Weinberg equilibrium in the in iduals genotyped. The cumulative discrimination power and power of exclusion of the 13 loci were greater than 0.999999999 and 0.9999888, respectively, giving an average match probability of 5.5 x 10(-15) for the population. Allelic distributions at the vWA, TH01, D13S317, and D16S539 loci differed from African-Americans and US Caucasians, and more detailed population data at these four loci may be needed to ensure their applicability for forensic purposes in Chinese populations. Previously unreported alleles were detected at several loci (some at relatively high frequencies), suggesting the need for their inclusion in the reference allelic ladder to meet the practical standard of forensic profiling in certain Chinese ethnic sub-populations. The preliminary DNA database provides base-line information applicable to the construction of a National Index System for criminal DNA profiling in PR China.
Publisher: Cambridge University Press (CUP)
Date: 06-1991
Publisher: Elsevier BV
Date: 05-2011
DOI: 10.1016/J.FERTNSTERT.2011.02.052
Abstract: To examine the determinants of semen quality in a large s le of military personnel from different geographical areas of the People's Republic of China. Cross-sectional study. Six representative geographical regions in China: Beihai, Lhasa, Germu, Xinzhou, Huhehaote, and Mohe. 1,194 army personnel aged 18 to 35 years at the time of their inclusion in the study, s led between 2007 and 2009. None. Semen volume (in milliliters), sperm concentration (in millions per milliliter), percentage of motile spermatozoa, total sperm count (in millions), and relative risk of subfertility. The median values were 3.0 mL for semen volume, 39.4×10(6) per mL for sperm concentration, 120.1×10(6) for total sperm count, 15.8% for sperm rapid progressive motility, 30.1% for sperm progressive motility, and 43.9% for total motility. We found that 88.3% of the servicemen had at least one semen parameter below normal values according to World Health Organization (WHO) recommendations (1999), and 62.5% according to WHO recommendations (2010). Season, average altitude, and duration of sexual abstinence all were statistically significantly associated with semen quality. The men had markedly lower mean sperm concentrations, sperm counts, and sperm motility compared with WHO recommendations. Possible contributory factors included diet, lifestyle, climate, and altitude.
Publisher: Informa UK Limited
Date: 2002
Publisher: Elsevier BV
Date: 05-2008
Publisher: Wiley
Date: 29-03-2005
DOI: 10.1046/J.1529-8817.2005.00179.X
Abstract: It has been widely believed that consanguineous marriage was infrequent in northern Europe. As part of ongoing studies into the population structure of northern Sweden, the Demographic DataBase of Umeå University has undertaken digitization of the parish record books of the Swedish Lutheran Church, which date back to the late 17th century. To examine the prevalence and patterns of consanguineous marriage, information from the DataBase was abstracted for the Skellefteå region during the period 1720-1899 and extended family pedigrees constructed. Of the 14,639 marriages recorded, 3,043 (20.8%) were between couples related as sixth cousins or closer. Following changes in the Swedish civil law in 1844 that removed the requirement of royal dispensation for first cousin unions, a significant increase in first cousin marriages occurred during the next two generations, even though the total population of the region grew significantly. There was also strong evidence that consanguineous marriages were favoured within particular families. The findings of the study are consistent with the patterns of single gene disorders reported in specific communities in the region, and they suggest that founder effect, drift and consanguinity all were important influences on population genetic structure in previous generations.
Publisher: Wiley
Date: 19-03-2003
DOI: 10.1046/J.1365-2370.2003.00370.X
Abstract: Mannose-binding lectin (MBL) is an important complement-activating protein of the human immune system. As a result of one of three structural gene mutations in exon 1 (variants B, C and D) and/or the presence of a low-efficiency promoter polymorphism, MBL deficiency may be associated with increased susceptibility to infectious diseases and to autoimmune disorders, including systemic lupus erythematosus (SLE). Using a combined approach of heteroduplex generator and polymerase chain reaction, a systematic search for mutations in exon 1 and the promoter region of the MBL gene was performed in a Chinese study population comprising 41 SLE patients and 111 healthy controls. Two alleles, a wild-type allele A and a variant allele B (a previously reported mutation of GGC to GAC at codon 54), were identified in MBL exon 1. The frequency of the B allele (0.15) was higher in the SLE patients than in the healthy controls (0.09), but the difference did not attain statistical significance (P > 0.05). However, for two polymorphisms at positions -550 and -221 in the promoter region, the frequency of the low-MBL-producing haplotype (LX) in the patients (0.2073) was significantly higher than that in the controls (0.0855) (P = 0.003, relative risk = 2.79). Our results suggest that the LX haplotype represents a strong risk factor among Chinese SLE patients. Although of lesser importance, the MBL B allele also may be a risk component in the developing process of SLE in Chinese patients.
Publisher: Informa UK Limited
Date: 1985
DOI: 10.1080/03014468500007791
Abstract: Linear regressions have been used extensively for the calculation of lethal gene equivalents in human populations. There are considerable theoretical and practical objections to the use of the method for this purpose.
Publisher: Springer Science and Business Media LLC
Date: 11-2003
Publisher: Cambridge University Press (CUP)
Date: 03-1983
Publisher: Cambridge University Press (CUP)
Date: 10-2000
DOI: 10.1017/S0021932000004338
Abstract: Using data derived from the 1992–1993 National Family Health Survey, the sociodemographic characteristics of consanguineous marriage were determined in the Muslim population of India. In this nationally representative s le of 8436 women, consanguineous marriages accounted for 22·0% of the total. No differences between the consanguineous and non-consanguineous groups were observed in terms of mean age at marriage or mean age at cohabitation. The study confirmed the negative association between consanguineous marriage and maternal education but also indicated that women in consanguineous unions were more likely to be employed, albeit mainly in agricultural work on behalf of the family. Consanguineous couples more frequently lived in smaller towns and in an extended family environment. Somewhat conflicting results were obtained with indicators of socioeconomic status, but the overall picture suggested that consanguineous households had greater access to consumer goods because of their larger number of co-resident persons.
Publisher: Cambridge University Press (CUP)
Date: 1999
DOI: 10.1017/S0021932099001212
Abstract: Fertility rates in Pakistan have remained consistently high over the past three decades. While numerous studies have examined sociodemographic determinants, the role of biological factors, and particularly consanguinity, has received little attention, even though marriage between close biological relatives continues to be the norm in Pakistan. Reproductive behaviour among women in consanguineous (first cousin) and non-consanguineous unions was compared, using data from a 1995 study of multi-ethnic communities in Karachi and the 1990–91 Pakistan Demographic & Health Survey (PDHS). The results show that, although female age at first marriage has been gradually rising in both study s les, women in consanguineous unions married at younger ages and were less likely to use modern contraceptive methods. In the Karachi s le, women in first cousin unions experienced a higher mean number of pregnancies and also reported a higher mean number of children ever born (CEB). However, their mean number of surviving children did not differ from those born to women in non-consanguineous unions, implying higher prenatal and/or postnatal losses in couples related as first cousins. On the other hand, the PDHS showed both lower CEB values for women in consanguineous marriages and a lower number of surviving children. Given the continuing popularity of consanguineous marriage, these findings have important implications for future fertility reduction in Pakistan.
Publisher: Wiley
Date: 08-12-2007
DOI: 10.1111/J.1365-2788.2006.00862.X
Abstract: Down syndrome is one of the commonest causes of intellectual disability. As life expectancy improves with early and more intensive surgical and medical treatments, people with the disorder are more likely to exhibit classic morbidity and mortality patterns and be diagnosed with diseases such as cancer. A profile of cancer cases among people with Down syndrome has been compiled, based on the analysis of a linked data set that included information from the Disability Services Commission of Western Australian and the State Cancer Registry. Although the total age- and sex-standardized incidence ratios (SIRs) for people with Down syndrome were similar to that for the general population, SIRs for leukaemia were significantly higher while the incidence of certain other types of cancers was reduced. Overall, there was a lower incidence of solid tumours in Down syndrome, possibly reflecting the age profile of the study cohort.
Publisher: S. Karger AG
Date: 02-10-2008
DOI: 10.1159/000160666
Abstract: Australia has a multicultural society that has arisen from continuing migration. While the population is relatively small, just over 20.7 million, it is genetically erse and is spread over a large land mass. The federal system of government is democratic, based on states and territories, and there is a socialized healthcare system, in which public and private models operate in parallel. Clinical genetics services are publicly funded by State Departments of Health, rather than by the Commonwealth Government, with the model of service provision varying from state to state. Each of these factors has important implications for the effective delivery of genetic screening programs and clinical genetic services that meet the needs of all Australians. Population genetic screening occurs throughout Australia predominantly as newborn screening programs and to identify pregnancies at risk of chromosomal and neural tube defects, while carrier screening programs are essentially ad hoc. Despite inevitable tensions between federal and state policies, there is increasing evidence of the development of national policy in a range of genetic issues, not least in newborn screening, genetic testing, and health professional education. However, further work is necessary to establish frameworks for the regulation and funding of new genetic tests across state/federal boundaries, which will be crucial to the establishment of a national approach to public health genomics policy.
Publisher: Wiley
Date: 07-2000
DOI: 10.1034/J.1399-0004.2000.580109.X
Abstract: During the course of genome studies in a rural community in the South Indian state of Karnataka, DNA-based investigations and counselling for familial adenomatous polyposis (FAP) were requested via the community physician. The proposita died in 1940 and FAP had been clinically diagnosed in 2 of her 5 children, both deceased. DNA s les from 2 affected in iduals in the third generation were screened for mutations in the APC gene, and a frame-shift mutation was identified in exon 15 with a common deletion at codon 1061. Predictive testing for the mutation was then organized on a voluntary basis. There were 11 positive tests, including confirmatory positives on 2 persons diagnosed by colonoscopy, and to date surgery has been successfully undertaken on 3 previously undiagnosed adults. The ongoing success of the study indicates that, with appropriate access to the facilities offered by collaborating centres, predictive testing is feasible for diseases such as FAP and could be of significant benefit to communities in economically less developed countries.
Publisher: Cambridge University Press (CUP)
Date: 06-12-2020
DOI: 10.1017/S0021932019000762
Abstract: To an extent the question posed in the title of this paper can simply be answered in the affirmative. Based on the extensive data available from the National Family Health Survey-1 (NFHS-1) conducted in 1992–93 and NFHS-4 in 2015–16 there has been a significant overall decline of some 19% in the prevalence of consanguineous marriage in India. However, when examined at state level the picture is more complex, with large reductions in consanguinity in southern states where intra-familial marriage previously has been strongly favoured, whereas in some northern states in which close kin unions traditionally have been proscribed small increases were recorded. In a country such as India, comprising an estimated 18% of the current world population and with multiple ethnic, religious, geographical and social sub- isions, apparently contrary findings of this nature are not unexpected – especially given the major shifts that are underway in family sizes, in education and employment, and with rapid urbanization. The changing health profile of the population also is an important factor, with non-communicable diseases now responsible for a majority of morbidity and premature mortality in adulthood. The degree to which future alterations in the prevalence and profile of consanguineous marriage occur, and at what rate, is difficult to predict – the more so given the markedly erse cultural identities that remain extant across the Sub-Continent, and ongoing intra-community endogamy.
Publisher: Wiley
Date: 30-09-2014
DOI: 10.1002/PD.4487
Abstract: The aim of the present study was to assess the risk of major anomalies in the offspring of consanguineous couples, including data on the prenatal situation. Over 20 years (1993-2012), 35,391 fetuses were examined by prenatal sonography. In 675 cases (1.9%), parents were consanguineous, with 307 couples (45.5%) related as first cousins, 368 couples (54.5%) beyond first cousins. Detailed information was retrieved on 31,710 (89.6%) fetuses, (consanguineous 568: 1.8%). Overall prevalence of major anomalies among fetuses with non-consanguineous parents was 2.9% (consanguineous, 10.9% first cousins, 12.4% beyond first cousins, 6.5%). Adjusting the overall numbers for cases having been referred because of a previous index case, the prevalences were 2.8% (non-consanguineous) and 6.1% (consanguineous) (first cousin, 8.5% beyond first cousin, 3.9%). Further adjustment for differential rates of trisomic pregnancies indicated 2.0%/5.9% congenital anomalies (non-consanguineous/consanguineous groups), that is, a consanguinity-associated excess of 3.9%, 6.1% in first cousin progeny and 1.9% beyond first cousin. The prevalence of major fetal anomalies associated with consanguinity is higher than in evaluations based only on postnatal life. It is important that this information is made available in genetic counselling programmes, especially in multi-ethnic and multi-religious communities, to enable couples to make informed decisions.
Publisher: Springer Science and Business Media LLC
Date: 21-02-2008
Publisher: Wiley
Date: 08-2003
Publisher: Elsevier BV
Date: 1983
DOI: 10.1016/0531-5565(83)90007-4
Abstract: Scanning and transmission electron microscopy were used to examine human embryonic lung fibroblasts at different population doubling levels. Scanning electron microscopy of cells at population doubling levels 26, 45 and 59 did not reveal a significant change in cell size with increasing age. However, transmission electron microscopy of cells at population doubling levels 19 and 45 showed an increase in nuclear lobes, a decrease in the number of ribosomes associated with rough endoplasmic reticulum, and changes to the internal structure of mitochondria on increasing population doubling level. No other previously reported age-related changes were found.
Publisher: Wiley
Date: 24-04-2003
DOI: 10.1002/RCM.1038
Abstract: Analysis of single nucleotide polymorphisms (SNPs) has become an increasingly important area of research, with numerous applications in medical genetics, population genetics, forensic science, and agricultural biotechnology. Large-scale SNP analyses require the development of methodologies that are economical, flexible, accurate and capable of automation. Primer extension in conjunction with matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOFMS) is currently emerging as a potential method for high-throughput SNP genotyping. We have evaluated a number of published primer extension methods and refined a simple and robust protocol to analyze human autosomal disease-causing mutations and population genetic markers on the Y-chromosome. Twelve different variant sites were examined, and homozygotes, heterozygotes and hemizygotes were accurately typed. A 100% concordance was observed between SNP genotypes obtained using the MALDI-TOFMS technique and alternative genotyping methods, such as restriction fragment length polymorphism (RFLP) assays and denaturing high-performance liquid chromatography (DHPLC). Since multiple polymorphisms can be detected in single reactions, the method provides a cost-effective approach for SNP analysis. The protocol is also extremely flexible (able to accommodate new markers) and can be adapted to a number of platforms without the use of commercial kits.
Publisher: Cambridge University Press (CUP)
Date: 15-06-2016
Publisher: Oxford University Press (OUP)
Date: 19-11-2009
DOI: 10.1093/IJE/DYP313
Publisher: Springer Science and Business Media LLC
Date: 12-1986
DOI: 10.1007/BF02442058
Publisher: Hindawi Limited
Date: 23-06-2011
DOI: 10.1002/HUMU.21510
Abstract: Web-based informatics resources for genetic disorders have evolved from genome-wide databases like OMIM and HGMD to Locus Specific databases (LSDBs) and National and Ethnic Mutation Databases (NEMDBs). However, with the increasing amenability of genetic disorders to diagnosis and better management, many previously underreported conditions are emerging as disorders of public health significance. In turn, the greater emphasis on noncommunicable disorders has generated a demand for comprehensive and relevant disease-based information from end-users, including clinicians, patients, genetic epidemiologists, health administrators and policymakers. To accommodate these demands, country-specific and disease-centric resources are required to complement the existing LSDBs and NEMDBs. Currently available preconfigured Web-based software applications can be customized for this purpose. The present article describes the formulation and construction of a Web-based informatics resource for β-thalassemia and other hemoglobinopathies, initially for use in India, a multiethnic, multireligious country with a population approaching 1,200 million. The resource ThalInd (ccg.murdoch.edu.au/thalind) has been created using the LOVD system, an open source platform-independent database system. The system has been customized to incorporate and accommodate data pertinent to molecular genetics, population genetics, genotype-phenotype correlations, disease burden, and infrastructural assessment. Importantly, the resource also has been aligned with the administrative health system and demographic resources of the country.
Publisher: S. Karger AG
Date: 2014
DOI: 10.1159/000358403
Abstract: The aims of the study were to determine the prevalence, types and socio-economic correlates of consanguineous marriages in Iran, and to gauge the extent to which consanguinity influenced fertility, pregnancy outcomes and the expression of genetic disorders in the present-day population. Data on the prevalence of consanguinity and birth outcomes in the first marriages of 5,515 women were abstracted from the 2005 Iran Low Fertility Study [Hosseini-Chavoshi et al: Fertility and Contraceptive Use Dynamics in Iran: Special Focus on Low Fertility Regions. Canberra, Australian National University, 2007]. The results of associated socio-economic variables were collated and assessed by Pearson's χ(2) analysis and logistic regression. Overall, 37.4% of the marriages were consanguineous (α = 0.0149), but with major differences between 4 representative populations. Consanguinity was higher among rural couples, older marriage cohorts, women marrying at a younger age, and women with lower levels of formal education. In general, consanguineous couples had higher mean numbers of pregnancies, live births and surviving children. Given declining family sizes, a rapid urbanization and increased educational and employment opportunities, it seems inevitable that consanguineous marriages will decline in prevalence in Iran, albeit more slowly in more traditional rural communities. Predictably, there will be a concomitant reduction in the incidence of recessive genetic disorders, but this is against a background transition from communicable to non-communicable diseases.
Publisher: Wiley
Date: 11-2005
DOI: 10.1002/AJPA.20193
Abstract: Christmas Island is a remote Australian territory located close to the main Indonesian island of Java. Y-chromosome and mitochondrial DNA (mtDNA) markers were used to investigate the genetic structure of the population, which comprises communities of mixed ethnic origin. Analysis of 12 Y-chromosome biallelic polymorphisms revealed a high level of gene ersity and haplotype frequencies that were consistent with source populations in southern China and Southeast Asia. mtDNA hypervariable segment I (HVS-I) sequences displayed high levels of haplotype ersity and nucleotide ersity that were comparable to various Asian populations. Genetic distances revealed extremely low mtDNA differentiation among Christmas Islanders and Asian populations. This was supported by the relatively high proportion of sequence types shared among these populations. The most common mtDNA haplogroups were M* and B, followed by D and F, which are prevalent in East/Southeast Asia. Christmas Islanders of European descent were characterized by the Eurasian haplogroup R*, and a limited degree of admixture was observed. In general, analysis of the genetic data indicated population affinities to southern Chinese (in particular from the Yunnan Province) and Southeast Asia (Thailand, Malaysia, and Cambodia), which was consistent with historical records of settlement. The combined use of these different marker systems provides a useful and appropriate model for the study of contemporary populations derived from different ethnic origins.
Publisher: Elsevier BV
Date: 11-2010
DOI: 10.1016/J.EARLHUMDEV.2010.08.003
Abstract: Marriage between biological relatives is widely popular in many parts of the world, with over 1000 million people living in countries where 20-50+% of unions are contracted between couples related as second cousins or closer. Consanguinity is, however, a controversial topic, in part due to public misunderstanding, complicated by often exaggerated past estimates of the adverse health outcomes. While some consanguineous couples are at high risk of conceiving a child with a genetic disorder, they are a small minority. Thus a multi-population meta-analysis has indicated an excess infant death rate of 1.1% in the progeny of first cousins, and even this figure may be compromised by inadequate control for non-genetic variables. The benefits as well as the disadvantages of consanguineous marriage are assessed and discussed, with specific consideration given to the health of migrant communities in Western countries, among whom first cousin marriage remains preferential.
Publisher: Elsevier BV
Date: 06-2004
Publisher: S. Karger AG
Date: 2014
DOI: 10.1159/000358404
Abstract: Mucopolysaccharidosis type VI (MPS VI - Maroteaux-Lamy syndrome) is a globally rare lysosomal storage disease caused by a deficiency of arylsulfatase B. However, in Monte Santo, a poor and isolated rural region in Northeast Brazil with large family sizes and high rates of community endogamy and parental consanguinity (α = 0.00483), 9 living and 4 now deceased in iduals in 11 kindreds have been diagnosed with MPS VI, all with the same p.H178L missense founder mutation. A further 33 deceased persons have been identified by family members as exhibiting the disease phenotype. Detailed pedigrees were constructed for the 13 genomically confirmed MPS VI patients, with blood s les collected from 236 unaffected family members to determine the prevalence of the p.H178L mutation. A total of 98 (20.8%) mutant alleles and 374 (79.2%) normal alleles were identified, with 41.5% of the in iduals heterozygous for the p.H178L mutation and 58.5% homozygous for the normal allele. A significant number of other family members with a 50 or 25% chance of being heterozygous for the p.H178L mutation were unavailable for testing. The data indicate a compelling case for community-based neonatal screening in conjunction with further initiatives among MPS VI family members to promote genetic education and genetic counselling.
Publisher: Elsevier BV
Date: 05-1984
Publisher: Annual Reviews
Date: 21-10-2010
DOI: 10.1146/ANNUREV.ANTHRO.012809.105051
Abstract: Mate choice among early human groups and in many historical populations was subject to both demographic and social constraints, ensuring that most unions were between couples who had coinherited substantial proportions of their genomes from common ancestors. Even in populations in which close consanguineous marriage was proscribed, community endogamy would have been sufficient to ensure high levels of homozygosity. Consanguineous marriage remains the choice of an estimated 10.4% of the global population, although there has been an overall decline in its popularity, especially in developed countries. Recent studies have indicated that the shift from consanguineous marriage to panmixia has been accompanied by a reduction in homozygosity. The concomitant predicted decrease in incidence of both recessive single-gene disorders and more common adult-onset diseases will have a significant impact on the health of future generations.
Publisher: Public Library of Science (PLoS)
Date: 03-07-2012
Publisher: Informa UK Limited
Date: 1981
DOI: 10.1080/03014468100005301
Abstract: The degree of consanguinity of the progeny, the number of live-borns and number of living children were determined in 3350 marriages in Bangalore, Karnataka. The coefficient of inbreeding (F) was 0-02308, higher than in comparable, urban populations in other South Indian states. No significant differences were found between the consanguineous and nonconsanguineous groups in numbers of live-born or living children nor was there any consanguinity-related trend with respect to these parameters.
Location: United Kingdom of Great Britain and Northern Ireland
Location: United Kingdom of Great Britain and Northern Ireland
Location: United Kingdom of Great Britain and Northern Ireland
Location: United Kingdom of Great Britain and Northern Ireland
No related grants have been discovered for Alan Bittles.