Spectrum of Gjb2 Gene Mutations in Nonsyndromic Autosomal Recessive Deaf Patients in Yazd

[摘要] Introduction: Hearing loss is the most common sensory neural defect in humans, affecting 1 in 1000neonates, with over half of these cases predicted to be hereditary in nature. Most hereditary hearing loss isinherited in a recessive fashion, accounting for approximately 80 % of non-syndromic hearing loss (NSHL).Mutations in GJB2 gene are major cause of inherited deafness in the European and American populations.To date, more than 90 mutations have been reported in this gene. Although most of these mutations are rarebut 35delG mutation is the most common deafness causing allelic variant of GJB2 in most parts of the world.Methods: In this project, 120 probands from 120 families with ARNSHL in Yazd Province were studied.Mutations Screening of GJB2 was performed by Amplification Refractory Mutation System (ARMS)-PCRfor detection of 35delG and then all samples excluding 35delG homozygote were analyzed by DHPLC andDirect Sequencing.Results: GJB2-related deafness was present in 7.5% of this population. We identified 4 mutations (35delG,312del14, 314del14 and 167delT) and 4 polymorphisms (V153I, V27I, E114G and R127H) in this study.Conclusion: Prevalence of GJB2 mutations in this population was lower than American and Europeanpopulations, and also other provinces of Iran. Interestingly, 312del14 rather than 35delG was the mostcommon mutation found in the population under study. 56.25 % of GJB2 mutant alleles carried 312del14mutation. To date, this frequency has not been reported in any of the world populations.

[学科分类] 药学、药理学、毒理学（综合）

[关键词] demosponge;spiculite;turbidite;Silesian Basin;Outer Carpathians;Cenomanian