Consanguineous offspring have elevated levels of homozygosity. Autozygous stretches within their genome are likely to harbour loss of function (LoF) mutations which will lead to complete inactivation or dysfunction of genes. Studying consanguineous offspring with clinical phenotypes has been very useful for identifying disease causal mutations. However, at present, most of the genes in the huma...

Most cases of juvenile-onset diabetes (JOD) are diagnosed as type 1 diabetes (T1D), for which genetic studies conducted in outbred Caucasian populations support the concept of multifactorial inheritance. However, this view may be partly challenged in particular population settings. In view of the suggestive evidence for a high prevalence of Wolfram syndrome (WFS) in Lebanon, the phenotypic vari...

mental retardation (mr) is one of the most frequently found major genetic disorders around the world, affecting 1-3% of the people in the general population. the recent advancement in molecular biology and cytogenetic study has made possible the identification of new genes for a variety of genetic disorders including autosomal recessive mr. recessive genetic disorders are common in pakistan due...

background: amelogenesis imperfecta (ai) is an inherited tooth disorder. despite the fact that up to now, several gene muta­tions in mmp20, enam, amelx and klk4 genes have been reported to be associated with ai, many other genes sug­gested to be involved. the main objective of this study was to find the mutations in three major candidate genes including mmp20, enam and klk4 responsible for ai f...

The purpose of the present study was to determine the frequency of hepatitis B virus (HBV) markers in families of HBsAg-positive patients with chronic liver disease. Serum anti-HBc, HBsAg and anti-HBs were determined by enzyme immunoassay and four subpopulations were considered: genetically related (consanguineous) and non-genetically related (non-consanguineous) Asian subjects and genetically ...

objectives: the prevalence of consanguineous marriage is about 30 % in iran and this can increase the probability of incidence of genetic impairments such as hearing impairments. hearing impairment in comparison with other hereditary disorders is the most incident. the purpose of this survey is to identify the prevalence of consanguinity among the parents of sensoryneural hearing impaired stude...