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

Authors

  • A Astani Master of Science in Virology, Genetics Department, Kerman Social Welfare and Rehabilitation Organization, Kerman Iran
  • AR Asadi PhD in Medical Physics and Rehabilitation
  • C Nishimura Head of Gentics Department, Otolaryngology Research Center, University of Iowa City, IA, USA.
  • H Najmabadi Associate Professor of Genetics, Genetics Research Center, The University of Social Welfare and Rehabilitation, Tehran, Iran.
  • H Ziaaddini General Practicioner
  • K Kahrizi Pediatrician
  • Kh Jalalvand Bachelor of Science in Nursing
  • M Mohseni Master of Science in Cell and Molecular Biology
  • M Nejat Master of Science in Genetics
  • N Bazazzadegan Master of Science in Cell and Molecular Biology
  • N Mirhoseini Pediatrician
  • RJH Smith Audiologist, Head of Otolaryngology Research Center
  • S Arzhangi Bachelor of Science in Nursing
  • Y Riazalhosseini Master of Science in Cell and Molecular Biology
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 (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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Journal title

volume 11  issue 3

pages  136- 140

publication date 2004-07-01

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