بررسي شيوع جهش هاي ژن GJB2 در اقوام ايراني

Prevalence Study of GJB2 Gene Mutations in Iranian Ethnics

When inher ited in an autoso mal recessive manner, it typically presents as an isolated findin g. Intere stin gly and unexpectedly. in spite of extreme heterogeneity, mutations in one ge ne, GJB 2, are the most common cause of co ngenital sev ere- to-pro found deafn ess in many different populations. In this study, we ass essed the contributions made by GJB2 mut ation s and deleti on in a porti on of GJB6 to the auto somal rece ssive non- syndromi c deafness gene tic load in Iran . Materials & Methods: In this descripti ve and cross - sectional study 1605 proband s from 1605 different nuclear families with autosomal recess ive non-syndrorni c hearing lo ss wer e in vesti gated . Hearin g loss test s and clinical examination were done and 10 ml blood was drawn as DNA so urce. Aft er study of 35deiG mut ation by ARMs peR, negative or heterozygote individuals were se nt to IOWA Uni versity for dete ction of other GJB 2 mut ations. Results: GJB2-rela ted deafness was found in 243 familie s (15. 1%). Conclusion: Vari ent geographi c pattern for Gi B2- related deafness has con siderable results in Iran in comparable with other study in Europe and our neighboring co untries and deletion in GJB6. l" (Gi B6-D l 3S 1830 )J hasn ʹt been detected in our studied population.