Journal of Kerman University of Medical Sciences (Jul 2004)

Relative Frequency of 35delG Mutation in GJB2 Gene in Autosomal Recessive Non-Syndromic Hearing Loss (ARNSHL) Patients in Kerman Population

  • N Bazazzadegan,
  • N Mirhoseini,
  • H Ziaaddini,
  • AR Asadi,
  • K Kahrizi,
  • S Arzhangi,
  • A Astani,
  • M Mohseni,
  • Y Riazalhosseini,
  • M Nejat,
  • Kh Jalalvand,
  • RJH Smith,
  • C Nishimura,
  • H Najmabadi

Journal volume & issue
Vol. 11, no. 3
pp. 136 – 140

Abstract

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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 (one 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.

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