文章基本信息

标题："Two Novel Mutations and Predominant 35delG Mutation in the Connexin 26 Gene (GJB2) in Iranian Populations"
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作者：M Hashemzadeh Chaleshtori ; M Dowlati ; DD Farhud 等
期刊名称：Iranian Journal of Public Health
印刷版ISSN：2251-6085
电子版ISSN：2251-6093
出版年度：2004
卷号：33
期号：02
页码：14-19
出版社：Tehran University of Medical Sciences
摘要：Mutations in the GJB2 gene encoding Connexin 26 (Cx26) protein are a major cause for autosomal recessive non syndromic and sporadic deafness in many populations. In this study we have investigated the prevalence of the GJB2 gene mutations using nested PCR pre screening strategy and direct sequencing method. Two hundred and sixty autosomal recessive non syndromic and sporadic deaf subjects from 199 families in two provinces of Iran (Gilan and Khorasan) were studied. Altogether 14 different genetic variants were identified from which 2 were novel variant (327delG+G109G and 431insC). Eight GJB2 mutations including 35delG, 235delC, W77X, R127H, M34T, V27I+E114G, L90P and delE120 were also found in 54 of 199 families (27%). Four polymorphysms V27I, S86T, V153I and G160S also were detected. Thirty two of 199 families were observed to have GJB2 mutations in both alleles (16%). The most common mutation was 35delG so that 43 out of 55 GJB2 mutations (78.2%) contained 35delG mutation.
关键词：Connexin 26 ، GJB2 ، Deafness ، ARNSHL