Relative Frequency of ۳۵delG Mutation in GJB۲ Gene in Autosomal Recessive Non-Syndromic Hearing Loss (ARNSHL) Patients in Kerman Population
- سال انتشار: 1383
- محل انتشار: مجله دانشگاه علوم پزشکی کرمان، دوره: 11، شماره: 3
- کد COI اختصاصی: JR_JKMU-11-3_002
- زبان مقاله: فارسی
- تعداد مشاهده: 176
نویسندگان
Master of Science in Cell and Molecular Biology
Pediatrician
General Practicioner
PhD in Medical Physics and Rehabilitation
Pediatrician
Bachelor of Science in Nursing
Master of Science in Virology, Genetics Department, Kerman Social Welfare and Rehabilitation Organization, Kerman Iran
Master of Science in Cell and Molecular Biology
Master of Science in Cell and Molecular Biology
Master of Science in Genetics
Bachelor of Science in Nursing
Audiologist, Head of Otolaryngology Research Center
Head of Gentics Department, Otolaryngology Research Center, University of Iowa City, IA, USA.
Associate Professor of Genetics, Genetics Research Center, The University of Social Welfare and Rehabilitation, Tehran, Iran.
چکیده
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.کلیدواژه ها
Autosomal recessive non-syndromic hearing loss (ARNSHL), GJB۲, ۳۵delGاطلاعات بیشتر در مورد COI
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