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Relative Frequency of ۳۵delG Mutation in GJB۲ Gene in Autosomal Recessive Non-Syndromic Hearing Loss (ARNSHL) Patients in Kerman Population

عنوان مقاله: Relative Frequency of ۳۵delG Mutation in GJB۲ Gene in Autosomal Recessive Non-Syndromic Hearing Loss (ARNSHL) Patients in Kerman Population
شناسه ملی مقاله: JR_JKMU-11-3_002
منتشر شده در در سال 1383
مشخصات نویسندگان مقاله:

N Bazazzadegan - Master of Science in Cell and Molecular Biology
N Mirhoseini - Pediatrician
H Ziaaddini - General Practicioner
AR Asadi - PhD in Medical Physics and Rehabilitation
K Kahrizi - Pediatrician
S Arzhangi - Bachelor of Science in Nursing
A Astani - Master of Science in Virology, Genetics Department, Kerman Social Welfare and Rehabilitation Organization, Kerman Iran
M Mohseni - Master of Science in Cell and Molecular Biology
Y Riazalhosseini - Master of Science in Cell and Molecular Biology
M Nejat - Master of Science in Genetics
Kh Jalalvand - Bachelor of Science in Nursing
RJH Smith - Audiologist, Head of Otolaryngology Research Center
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.

خلاصه مقاله:
Congenital hearing loss with many genetic and environmental causes affects ۱ in ۱۰۰۰ newborns. Mutations in the GJB۲(Gap Junction Beta-۲) gene encoding the gap junction protein connexin ۲۶ 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 (۳۵delG) of GJB۲ gene in Kerman non-syndromic deaf population. For this purpose, ۱۳۰ chromosomes from ۶۵ patients were studied and ۳۵delG mutation was diagnosed in ۳(۲.۳%) 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.

کلمات کلیدی:
Autosomal recessive non-syndromic hearing loss (ARNSHL), GJB۲, ۳۵delG

صفحه اختصاصی مقاله و دریافت فایل کامل: https://civilica.com/doc/1931927/