نتایج جستجو برای: consanguineous population
تعداد نتایج: 696035 فیلتر نتایج به سال:
Mutations in the lipase member H (LIPH) gene cause autosomal recessive hypotrichosis with woolly hair. We report herein on five consanguineous families from Pakistan segregating hypotrichosis and woolly hair. Genetic investigation using polymorphic microsatellite markers revealed homozygosity for a region spanning the HYPT7 locus on chromosome 3 in affected individuals of all five families. Seq...
Background: The consanguineous marriages are very common worldwide with a risk of acquiring a recessive gene mainly in multigenerational tradition of first cousin marriages. In Pakistan, the Muslim majority has more prevalence of practicing consanguinity than the Hindus. Aims & Objective: We studied the Serene Threonine Kinase-39 Single Nucleotide A > G Polymorphism rs35929607; and comparativel...
OBJECTIVES Consanguinity has been a long standing social habit among some Iranians. This study is aimed at determining the role of consanguinity on congenital malformations and the correlation of inbreeding coefficient with anomalies. METHODS In this cross-sectional study, all the newborns who were born during 9 months period from April to December 2008. (n=1195) at Shahid Sadoughi hospital, ...
R etinitis pigmentosa (RP) is a major cause of inherited blindness and accounts for 20% of children attending blind schools in Pakistan. Based on the European and American populations, the prevalence is estimated at 1 in 4000 individuals but has been reported to be as high as 1 in 372 in rural areas of South India. Eight loci and 44 genes have been associated with RP (RetNet, http://www.sph.uth...
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