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.