فهرست نشریات علمی دسترسی آزاد ایران

Introduction : Deafness is one of the most common sensory-neural disorders, with 80% of hereditary deafness being non-syndromic. The aim of this study was to investigate the frequency of the 167delT mutation of the gap junction protein beta 2 ( GJB2 ) gene in the deaf population of non-syndromic West Iran. Materials & Methods : Seventy individuals were included in the study, with 34 being deaf and 36 being healthy. The RFLP-PCR technique was used to detect the 167delT mutation. Results : The frequency of the homozygous mutant 167delT was 5.7% (4 individuals, equivalent to 8 chromosomes), with the heterozygous carriers at 75.7% (53 individuals, equivalent to 106 chromosomes), and the homozygous genotype in healthy individuals was 18.6% (13 individuals, equivalent to 26 chromosomes). In deaf individuals, the frequency of the homozygous mutant 167delT was 5.7% (4 individuals, equivalent to 8 chromosomes), the heterozygous genotype was 39.6% (27 individuals, equivalent to 54 chromosomes), and the frequency of the wild-type homozygous genotype was 4.7% (3 individuals, equivalent to 6 chromosomes). In healthy individuals, there was zero mutant genotype, 36.1% heterozygous carriers (26 individuals, equivalent to 52 chromosomes), and 13.9% wild-type homozygous (10 individuals, equivalent to 20 chromosomes). Conclusion : Gene mutations play a role in causing non-syndromic autosomal recessive deafness in our statistical population from Kermanshah Province. The GJB2 167delT mutant is responsible for 5.7% of ARNSHL deafness in the population of Kermanshah, which differs from the rates reported in other parts of Iran.