Proportion of Consanguineous Marriages in Community and Factors Affecting Pregnancy Outcome : A Hospital based Study in Ahmedabad City, Gujarat

Objectives : To find out (i) the proportion and the types of consanguinity and (ii) its correlation with fetal loss, neonatal deaths, complication related to obstetric and congenital abnormalities. Methods : All the delivered women at Tertiary Care Hospital were included in the cross sectional study during the study period. Total sample size was 6775. Information regarding educational status, occupation, consanguinity and pregnancy outcome was collected. Results : 17% consanguinity was found in selected people and among these marriages, 59.8% were between first cousins. There was highly significant difference observed between the consanguineous status of women and pregnancy outcome (Congenital malformations, abortion, Intrauterine death). Conclusion: The incidence of congenital abnormalities, Intrauterine Device (IUD) and abortion was found higher in Consanguineous marriages. There is a need to improve public awareness regarding problems related to Consanguineous marriages

Knowledge and attitude towards consanguineous marriage among educated adults in Riyadh

Background: In Saudi Arabia there is still a high prevalence of consanguineous marriage in spite of increased educational level. This may be attributed to the fact that this practice is more influenced by attitude towards this type of marriage rather than educational level. The Aim of this study was to determine knowledge and attitude towards consanguineous marriages among educated Saudi adults.Methods: A cross sectional study was conducted using an online questionnaire. A total of 680 educated Saudi adults living in Riyadh were asked about their socio-demographic characteristics, their knowledge and attitude towards consanguineous marriage.Results: Most of participants had poor knowledge and negative attitude (53.31% and 57.21% respectively). One third of participants had no idea about the possibility that consanguineous couples may have diseased offspring more than non-consanguineous couples. Those who had significantly higher attitude score towards consanguineous marriage were older age group, males, those who are married to their relatives, people who have frequent family history of consanguineous marriage and participants with parental consanguinity. Attitude towards consanguineous marriage can be predicted by age and knowledge.Conclusions: Changing the attitude can be done by changing level of knowledge. So, educational programs are recommended and should be directed to groups with higher attitude score.

Homozygosity mapping and mutation analysis of a consanguineous marriage family with autosomal recessive cerebellar ataxia / 中华神经科杂志

Objective To identify the pathogenic gene for a Chinese Han consanguineous marriage family with autosomal recessive cerebellar ataxia by homozygosity mapping and mutation analysis.Methods Six members of the family were enrolled in this study,including 3 patients,the unaffected sibling and their parents of first cousin marriage.After excluding GAA repeats mutation of FXN gene,whole-genome single nucleotide polymorphism (SNP) microarray scanning and homozygosity mapping were performed to localize the candidate gene.The coding regions and intronic flanking sequences of the candidate genes were analyzed.Results Four candidate regions were identified,including 2p25.3,9q22.2-34.3,13q12.3-14.3 and 17p13.The SETX gene localizing in 9q22.2-34.3 that is responsible for ataxia with oculomotor apraxia 2 was analyzed at first.There were 4 mutations in exon 10,including three missense mutations (c.3576T ＞ G,p.D1192E ; c.3754G ＞ A,p.G1252R; c.4156A ＞ G,p.I1386V) and a deletion mutation (c.5084_5087delAGTC,p.Q1695_S1696del).Three patients were homozygous of the 4 mutations,an unaffected sibling was normal,and their parents were heterozygous of 4 mutations.Conclusions The pathogenic haplotype comprising four mutations of the SETX gene was identified in the consanguinity family.c.5084_5087delAGTC (p.Q1695_S1696del) is a novel mutation.The affected individuals of this family were characterized by mild phenotype and slow progress without oculomotor apraxia,indicating the clinical variability of the disease.

Linkage study of DFNB3 responsible for hearing loss in human.

BACKGROUND: Hearing disorders represent a significant health problem worldwide. Recessive inherited cases of the deafness are more prevalent in Pakistan due to consanguineous marriages. Deafness caused by DFNB3 is due to mutation in the gene MYO XVA and its prevalence among Pakistani population is about 5%. MATERIALS AND METHODS: Families with at least two or more individual affected with deafness were selected from different areas of District Okara of Pakistan. Six consanguineous families of different ethnic groups having deaf individuals were studied. All these families had three or more deaf individuals in either two or more sib ships. Family history was taken to minimize the chances of other abnormalities. Pedigrees drawn by using Cyrillic software (version 2.1) showed that all the marriages were consanguineous and the families have recessive mode of inheritance. Three STR markers were selected and amplified on all the samples of six families through PCR. The PCR products were then genotyped on non denaturing polyacrylamide gel electrophoresis (PAGE). Haplotypes were constructed to determine the pattern of inheritance and also to determine whether a family was linked or unlinked with known DFNB3 locus. RESULTS: One out of six families showed linkage to the DFNB3 while rest of the families remained unlinked. Carriers of deafness genes were identified and information was provided to the families on request. CONCLUSION: Knowledge about the genetic causes of deafness provide insight into the variable expression of genes involved in this hereditary problem and may allow the prediction and prevention of associated health problems.

Lipoid proteinosis in the eastern Mediterranean region of Turkey.

Background: Lipoid proteinosis (LP), also known as hyalinosis cutis et mucosae or Urbach-Wiethe disease, is a rare autosomal recessive genodermatosis. Hyalin-like material is deposited in multiple organs, including the skin, oral mucosa, larynx, and brain. Only about 300 cases have been reported in the literature so far. Occurrence of LP in siblings is also rare. The reasons for relatively large number of cases, the clinical features of the patients, and the association of LP with other clinical conditions are described in this article. Aims: The aim of this study is to show that LP is not rare in Turkey and consanguineous marriage is still a social problem. Methods: We included patients between the years of 2008-2011 with lesions resembling LP. Based on the findings of clinical and histological examination of all cases, a diagnosis of LP was made. Results: We presented six different families with multiple family members suffered from LP. In total, we determined eight children and six adult patients. Three of eight children were from the same family (sisters), the other three children belonged to another family (brothers), two children were from another family (brother and sister), and the adult patients were from three different families. Conclusions: Patients with LP are likely to present first to a dermatologist because of the appearance of their skin; therefore, it is important that the dermatologic diagnosis is not to be missed. We described patients with LP and discuss the salient features of this disease.

Effects of Consanguineous Marriages On Oral And Craniofacial Structures : A Study On Dental Patients In North India.

Background: Consanguinity describes a relationship between two people who share an ancestor, or share blood. These consanguineous marriages are a major risk to the health of offsprings till the extent that they can cause various craniofacial abnormalities, orofacial pigmentations and other abnormal birth defects. We conducted a study on patients visiting a dental college in North India to accesses the possible deleterious effects of consanguineous marriages on oral and craniofacial structures. Methodology: The study group comprised of all the patients visiting outpatient department of Kotiwal Dental college and Research centre, Moradabad in North India from March 2009 to February 2010. 200 patients showed positive history of consanguinity. They were carefully evaluated and all the diagnostic information was noted. Results: 66 out of 200 patients had systemic disorders like cardiovascular, pulmonary and renal disturbances. 56 patients had orofacial manifestations like orofacial pigmentations, craniofacial syndromes and occlusal abnormalities with or without systemic disorders. Conclusion:The prevalence of consanguineous marriages is still high. Consanguineous marriages are a major risk to the health of offsprings till the extent that they can cause various craniofacial abnormalities, orofacial pigmentations and other abnormal birth defects. They increase the autosomal recessive conditions through the expression of recessive deleterious alleles, especially in the offspring of first degree cousins

Inheritance patterns, consanguinity & risk for asthma.

Background & objectives: Family history is an important risk factor for the development of asthma, contingent upon genetic and environment interaction. Since there is paucity of data on asthma inheritance in Indian population, the present study was undertaken to investigate the inheritance patterns of asthma and the effect of family history and consanguineous marriage on asthma inheritance. Methods: A total of 200 families, 100 index children and 100 index adults with clinically diagnosed asthma, along with 400 non-asthmatic children and adults as controls were selected for the present study. Information about the family history of each patients and controls was collected and analyzed pedigrees were also constructed. Results: A history of asthma in any member of the family was observed in 44.5 per cent of cases and 5.3 per cent of controls (P < 0.001). A differential risk of developing asthma was noted in family history of asthma in different first and second degree relatives of children and adult patients. Consanguineous marriage was also noted in parents in 24.5 per cent of cases and 12.3 per cent of controls (P< 0.001). The most common mode of asthma inheritance was recessive. Interpretation & conclusions: Our results showed that consanguineous marriage and family history of asthma are important determinants in the development of asthma in the offspring.

The impact of consanguinity on the Indian population.

Numerous studies have been conducted by Indian anthropologists into the prevalence of both consanguineous and affinal marriage.1-3 and the topic of consanguinity continues to attract great attention among geneticists and social scientists. The strengthening of family relationships is of primary importance in the preference for close kin unions, with economic benefits an additional consideration. Consanguinity does not appear to adversely affect human fertility. However, both postnatal morbidity and mortality are increased, with greatest effect so far observed in the early years of life. With declining mortality and morbidity due to infectious disease, recessive genetic disorders will progressively gain greater prominence in the overall spectrum of ill-health. This change will be especially obvious in communities which practise consanguineous marriage, and in small highly endogamous communities where random drift occurs.