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Consanguineous Marriages (consanguineous + marriage)

Distribution by Scientific Domains

Medical Sciences	41%
Life Sciences	41%
Humanities and Social Sciences	16%

Selected Abstracts

Inbreeding Coefficients for X-linked and Autosomal Genes in Consanguineous Marriages in Spanish Populations: The Case of Guipúzcoa (Basque Country)

ANNALS OF HUMAN GENETICS, Issue 2 2009
R. Calderón
Summary Inbreeding patterns over the past two centuries have been studied more extensively in Spain and Italy than anywhere else in Europe. Consanguinity studies in mainland Spain have shown that populations settled along the Cantabrian cornice share inbreeding patterns that distinguish them from other populations further south. A visual representation of spatial variations of two key inbreeding variables is presented here for the first time via contour maps. This paper also analyzes time trends of mean inbreeding coefficients for X-linked (Fx) and autosomal genes (F) (1862,1995) together with variations in Fx/F ratios in Guipúzcoa, the most autochthonous Spanish Basque province. Because close cousin marriages are a mark of identity of the study population, we evaluated the contribution of uncle-niece/aunt-nephew (M12) and first cousin (M22) marriages to Fx and F values and compared the frequencies of M12 and M22 pedigree subtypes and their corresponding Fx/F ratios to those found in other Spanish populations. The mean Fx and F inbreeding levels in Guipúzcoa for the 134-year period analyzed were 1.51 × 10,3 and 1.04 × 10,3, respectively, and the Fx/F ratio was seen to be very stable over time. Our findings show that major similarities exist for close consanguineous marriage subtypes between Basque and non-Basque Spanish populations, despite significant geographic variability in terms of first cousin pedigrees. The distortion seems to be caused by Guipúzcoa. The Fx/F ratios for first cousins in Spanish populations were higher than expected (1.25), with values ranging from 1.34 to 1.48. The findings of the present study may be useful for advancing knowledge on the effects of the interaction between biology and culture and for exploring associations between mating patterns and the prevalence of certain diseases. [source]

Consanguineous marriage and childhood health

DEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 8 2003
AH Bittles
First page of article [source]

Adverse perinatal conditions in hearing-impaired children in a developing country

PAEDIATRIC & PERINATAL EPIDEMIOLOGY, Issue 5 2006
Bolajoko O. Olusanya
Summary Prevailing adverse perinatal conditions in developing countries have been associated with substantial mortality, but little evidence exists on their impact on permanent childhood disabilities and morbidity due to limitations in clinical investigations and medical records. This study aims to identify the possible association between parent-reported adverse perinatal conditions and permanent hearing loss, in order to establish service needs within current maternal and child health programmes. Structured questionnaires were administered to 363 parents of deaf children and 309 parents of normal-hearing children in an inner city area of Lagos, Nigeria. The parents were from all social classes. After a multivariable logistic regression analysis, birth asphyxia [OR 20.45; 95% CI 6.26, 66.85], difficult delivery [OR 8.09; 95% CI 2.76, 23.68], neonatal jaundice [OR 2.45; 95% CI 1.25, 4.79] and neonatal seizures [OR 2.30; 95% CI 1.09, 4.85] were associated with permanent hearing loss. Consanguineous marriages [OR 6.69; 95% CI 2.72, 16.46] and family history of deafness [OR 6.27; 95% CI 2.07, 18.97] also emerged as additional risk factors for permanent hearing loss. In addition, parents of children in state-owned schools for the deaf were significantly more likely to belong to higher social classes compared with normal-hearing children in mainstream state-owned schools. There is a need to incorporate services for the early detection of permanent hearing loss into current maternal and child healthcare programmes in developing countries. [source]

Consanguineous marriages in Jordan: why is the rate changing with time?

CLINICAL GENETICS, Issue 6 2005
H Hamamy
The objective of this study was to explore the secular trend in consanguinity in Jordan and the subtypes of consanguineous marriages that may be undergoing a change. A total of 1032 individuals attending a diabetic clinic in Amman were interviewed. The questionnaire provided information on consanguinity status and date of marriage among three generations: the persons interviewed, their parents, parents of their spouses and their offspring. Data on consanguinity status among 5401 marriages was obtained. Generations were named generation 1 for marriages contracted before 1950, generation 2 for marriages contracted between 1950 and 1979, and generation 3 for marriages contracted after 1980. For generations 1, 2, and 3, first-cousin marriages constituted 20.2, 28.5 and 19.5% of all marriages, respectively, while the subtype of paternal parallel first-cousin marriages constituted 75.6, 60.3 and 43.3% of all first-cousin marriages, respectively. The offspring of first-cousin parents were significantly more prone to marry their relatives than the offspring of non-consanguineous parents, with rates of first-cousin marriages among offspring of first-cousin parents and non-related parents constituting 25.3 and 17.1% of all marriages, respectively. For generations 1, 2 and 3, the average coefficient of inbreeding was 0.0135, 0.02 and 0.0142, respectively. In conclusion, first-cousin marriage rate among a representative population from Amman showed a significant decline among marriages contracted after 1980 compared to marriages contracted between 1950 and 1979, but not to marriages contracted before 1950. The proportion of paternal parallel first cousins among first-cousin marriages showed a steady decline from one generation to the next. [source]

Carrier frequency of SMA by quantitative analysis of the SMN1 deletion in the Iranian population

EUROPEAN JOURNAL OF NEUROLOGY, Issue 1 2010
M. Hasanzad
Background and purpose:, Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder. Carrier frequency studies of SMA have been reported for various populations. Although no large-scale population-based studies of SMA have been performed in Iran, previous estimates have indicated that the incidence of autosomal recessive disorder partly because of the high prevalence of consanguineous marriage is much higher in the Iranian population than in other populations. Methods:, In this study, we used a reliable and highly sensitive quantitative real-time PCR assay with SYBR green I dye to detect the copy number of the SMN1 gene to determine the carrier frequency of SMA in 200 healthy unrelated, non-consanguineous couples from different part of Iran. Results:, To validate the method in our samples, we determined the relative quantification (RQ) of patients with homozygous deletion (0.00) and hemyzygous carriers (0.29,0.55). The RQ in 10 of 200 normal individuals were within the carrier range of 0.31,0.57, estimating a carrier frequency of 5% in the Iranian population. Conclusions:, Our data show that the SMA carrier frequency in Iran is higher than in the European population and that further programs of population carrier detection and prenatal testing should be implemented. [source]

,Bound from Either Side': The Limits of Power in Carolingian Marriage Disputes, 840,870

GENDER & HISTORY, Issue 3 2007
Rachel Stone
The article discusses four marriage disputes in ninth-century Francia which involved noblemen: Count Stephen of the Auvergne, Count Boso of Italy, Baldwin of Flanders and the royal vassal Falcric. All these men were affected by Carolingian reforming measures on consanguineous marriage, divorce and raptus (abduction). The article examines how gender and social status affected the forms of power and the strategies used by different parties in the cases: archbishops and popes, kings, the women involved and the noblemen themselves. A paradoxical situation is revealed: despite the patriarchal basis of Carolingian society, the power even of elite men over women and marriage was often highly contingent. Yet such restrictions on power did not imperil the gender order: the masculinity of the men involved in these marriage disputes was not questioned. [source]

Cerebrotendinous xanthomatosis: molecular characterization of two Scandinavian sisters

JOURNAL OF INTERNAL MEDICINE, Issue 3 2002
E. Rystedt
Abstract.,Rystedt E, Olin M, Seyama Y, Buchmann M, Berstad A, Eggertsen G, Björkhem I (Karolinska Institutet, Stockholm, Sweden; OchanomizuUniversity, Tokyo, Japan; Medisinsk avdeling, Haukeland sykehus, Bergen). Cerebrotendinous xanthomatosis: molecular characterization of two Scandinavian sisters (Case report). Journal of Internal Medicine 2002; 252: 259,264. Cerebrotendinous xanthomatosis (CTX) is a hereditary disorder, which is inherited as an autosomally recessive disease, causing production of cholesterol and cholestanol xanthomas and mental retardation. The disease is caused by mutations in the gene for sterol 27-hydroxylase (CYP27A1). The only CTX patients diagnosed in Scandinavia are two Norwegian sisters from a consanguineous marriage. Here we have characterized the mutation and its functional consequences for the enzyme. Analysis of genomic DNA from cultured fibroblasts identified a base exchange C > T in position 1441, causing arginine at amino acid position 441 to be replaced by tryptophan. The same mutation was introduced by mutagenesis in the complimentary DNA (cDNA) for CYP27, ligated into the expression vector pcDNA4/HisMax and transfected into HEK293 cells. The mutated enzyme had less than 5% of the enzyme activity compared with the native enzyme. No abnormal catalytic products could be identified in the cell culture medium. Probably the mutation affects the haem binding within the holoenzyme. The mutation has also previously been reported in a Japanese family. This is the second example of a CTX-causing mutation that has been recognized in more than one population. [source]

Glanzmann thrombasthenia and Bernard,Soulier syndrome in south Iran

INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, Issue 5 2005
A. AFRABIASI
Summary Glanzmann thrombasthenia (GT) and Bernard,Soulier syndrome (BSS) are two rare inherited disorders of platelet function. In this study, we report the demographic, clinical and biological characteristics of 23 patients with GT and of seven patients with BSS from southern Iran who had been followed for many years but fully characterized only recently, when platelet aggregation tests and flow cytometric studies became available for the first time in the country. We found a high prevalence of both diseases that can be explained by the high rate of consanguineous marriages in south Iran. Patients affected by GT and BSS suffer mainly from mucocutaneous bleedings causing anemia and transfusion requirements. [source]

Inbreeding and PKU allele frequency: Estimating by microsatellite approaches

AMERICAN JOURNAL OF HUMAN BIOLOGY, Issue 5 2010
Luciana L. Santos
Estimates of allele frequencies for recessive diseases are generally based on the frequency of affected individuals (q2). However, these estimates can be strongly biased due to inbreeding in the population. Objectives: The purpose of this study was to gain a better understanding of how inbreeding in the Minas Gerais State population affects phenylketonuria (PKU) incidence in the state and to determine the inbreeding coefficient based on microsatellites. Methods: Inbreeding coefficients of samples of 104 controls and 76 patients with PKU were estimated through a microsatellite approach. Besides, the amount and distribution of genetic variation within and among patients with PKU and control samples were characterized. Results: No genetic differentiation was observed between the samples. However, the Fis value found for samples of patients with PKU (0.042) was almost 15 times higher than that found among controls (0.003). When corrected by the inbreeding coefficient found among the controls, the PKU allele frequency decreased to 0.0057. Conclusions: The results enables us to infer that at least 35% of the PKU recessive homozygotes from the Minas Gerais population could be due to consanguineous marriages and suggest that microsatellites can be an useful approach to estimate inbreeding coefficients. Am. J. Hum. Biol. 22:716,719, 2010. © 2010 Wiley-Liss, Inc. [source]

The consanguinity effect on QF-PCR diagnosis of autosomal anomalies

PRENATAL DIAGNOSIS, Issue 5 2006
Michel B. Choueiri
Abstract Objectives Quantitative Fluorescent PCR (QF-PCR) is a simpler and faster method of detecting common chromosomal abnormalities when compared to cytogenetic analysis. The aim of our study is to investigate the applicability of this methodology in a population where consanguineous marriages are common and to estimate the heterozygous frequency of the PCR markers used. Methods Four hundred and twenty-three DNA samples were extracted from uncultured amniocytes and amplified with 18 short tandem repeats (STR) markers specific to chromosomes 13, 18 and 21. Amplification products were analyzed using the GeneScan software. Results QF-PCR correctly identified all the numerical abnormalities related to chromosomes 13, 18 and 21. A total of 24 autosomal trisomies (5.7%) were detected. The markers D21S1432 and D21S11 were the most consistent in providing unequivocal positive results for chromosome 21 and the heterozygosity percentages of the markers used were lower than the values reported in Western populations. Conclusion QF-PCR is reliable for the prenatal diagnosis of numerical anomalies of the chromosomes 13, 18 and 21 in our study population. The absence of STR heterozygosity data from Lebanon and surrounding countries makes our study very useful for the development of a reliable QF-PCR trisomy detection test. Copyright © 2006 John Wiley & Sons, Ltd. [source]

Audit of local performance compared with standards recommended by the national guidelines for aetiologic investigation of permanent childhood hearing impairment

CHILD: CARE, HEALTH AND DEVELOPMENT, Issue 6 2005
S. Yoong
Abstract Background National guidelines for aetiologic investigation of childhood deafness were developed as the Newborn Hearing Screening Program (NHSP) was being implemented in the United Kingdom. This guidance document was expected to be incorporated into the operational procedure of the NHSP. Method This criterion-based audit compared local care set against developed guidelines that can be used to assess the appropriateness of specific investigations, services and outcomes. Data on children diagnosed to have sensorineural deafness from March 2002,2004 were extracted from an established computerized database for analysis. Results Forty-seven children were included; 17 have bilateral severe to profound hearing loss, 25 have bilateral mild to moderate loss and 5 with unilateral loss. A high proportion of Pakistani children were from consanguineous marriages with a family history of deafness. Total 29.8% of children were diagnosed through newborn screening and 70.2% detected through hearing surveillance programmes. For children with bilateral severe to profound deafness, 53.0% accepted, 5.9% declined and 41.2% were not offered imaging of their inner ears. A total of 47.1% accepted and 52.9% declined electrocardiograph (ECG) evaluation. Total 70.6% accepted and 29.4% declined connexin mutations testing. Parental requests were required for those with lesser degree of hearing loss. Total 24% accepted, 28% declined and 48% were not offered connexin testing. None were offered ECG and imaging. Testing for congenital infections was inappropriate for children over 1 year old. Ten subjects accepted and five declined this investigation. In the total group, 63.8% accepted, 17.0% declined and 19.1% were not offered referral to the ophthalmic service. Total 46.8% accepted, 44.7% declined and 8.5% were not offered referral to genetics service. Investigations resulted in two connexin-positive children with moderate loss. Conclusion Our study identified key areas where guidelines were not followed. These were related to lack of funding and parental choice. This sample has a higher connexin ,hit' rate for lesser degree deafness. [source]