Relative frequency of 35delG mutation in GJB2 gene in autosomal recessive non-syndromic hearing loss (ARNSHL) patients in Kerman population

Bazaz Zadegan N, Mir Hosseini N, Ziaaddini H, Asadi AR, Kahrizi, (2004) Relative frequency of 35delG mutation in GJB2 gene in autosomal recessive non-syndromic hearing loss (ARNSHL) patients in Kerman population. Journal of Kerman University of Medical Sciences, 11 (3). ISSN 1023-9510

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Abstract

Congenital hearing loss with many genetic and environmental causes affects 1 in 1000 newborns. Mutations in the GJB2 (Gap junction beta-2) gene encoding the gap junction protein connexin 26 have been established as the main cause of autosomal recessive non-syndromic hearing loss. The aim of this study was to study the frequency of one mutation (35delG) of GJB2 gene in Kerman non-syndromic deaf population. For this purpose, 130 chromosomes from 65 patients were studied and 35delG mutation was diagnosed in 3 (2.3%) chromosomes (1 patient was homozygote and the other one was heterozygote). This rate of frequency is significantly higher comparing to that in the whole population of Iran. Keywords: Autosomal recessive non-syndromic hearing loss (ARNSHL), GJB2, 35delG

Item Type: Article
Subjects: R Medicine > R Medicine (General)
Depositing User: journals journals journals
Date Deposited: 03 Jan 2016 10:27
Last Modified: 03 Jan 2016 10:27
URI: http://eprints.kmu.ac.ir/id/eprint/24282

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