TY - JOUR ID - 32762 TI - Relative Frequency of 35delG Mutation in GJB2 Gene in Autosomal Recessive Non-Syndromic Hearing Loss (ARNSHL) Patients in Kerman Population JO - Journal of Kerman University of Medical Sciences JA - JKMU LA - en SN - 1023-9510 AU - Bazazzadegan, N AU - Mirhoseini, N AU - Ziaaddini, H AU - Asadi, AR AU - Kahrizi, K AU - Arzhangi, S AU - Astani, A AU - Mohseni, M AU - Riazalhosseini, Y AU - Nejat, M AU - Jalalvand, Kh AU - Smith, RJH AU - Nishimura, C AU - Najmabadi, H AD - Master of Science in Cell and Molecular Biology AD - Pediatrician AD - General Practicioner AD - PhD in Medical Physics and Rehabilitation AD - Bachelor of Science in Nursing AD - Master of Science in Virology, Genetics Department, Kerman Social Welfare and Rehabilitation Organization, Kerman Iran AD - Master of Science in Genetics AD - Audiologist, Head of Otolaryngology Research Center AD - Head of Gentics Department, Otolaryngology Research Center, University of Iowa City, IA, USA. AD - Associate Professor of Genetics, Genetics Research Center, The University of Social Welfare and Rehabilitation, Tehran, Iran. Y1 - 2004 PY - 2004 VL - 11 IS - 3 SP - 136 EP - 140 KW - Autosomal recessive non-syndromic hearing loss (ARNSHL) KW - GJB2 KW - 35delG DO - N2 - 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. UR - https://jkmu.kmu.ac.ir/article_32762.html L1 - https://jkmu.kmu.ac.ir/article_32762_50837385184f043fc057a0efcda79b20.pdf ER -