%0 Journal Article
%T Genetic analysis of GJB2 in a Chinese family with nonsyndromic hearing impairment<br>一个非综合征性耳聋家系致病基因的研究
%A ZHU Qi-Hui
%A LI Hu
%A LIU Ping
%A ZHU Zheng-Feng
%A WANG Xu
%A YUAN Wen-Lin
%A LIU Jing-Yu
%A MAO Hai-Yan
%A WANG Qing
%A LIU Mu-Gen
%A <br>朱奇慧
%A 李浒
%A 刘平
%A 朱正峰
%A 王旭
%A 袁文林
%A 刘静宇
%A 冒海燕
%A 王擎
%A 刘木根
%J 遗传
%D 2007
%I 
%X Nonsyndromic neurosensory hearing impairment(NSHI) is the most common human sensory disorder.Ap-proximately one in a thousand children is born with prelingual hearing loss.Mutations of the GJB2 gene,which encodes Connexin 26,are the most common cause of hereditary NSHI in many ethnic populations,and are responsible for 50% of cases of autosomal recessive NSHI.In this study,we recruited a complex NSHI pedigree from Jiangsu province of China.Linkage analysis of microsatellite markers flanking all known arNSHI genes linked the causative gene in the family to the polymorphic macrosatellite marker D13S175.Direct DNA sequencing of the whole coding region of GJB2 revealed that a common homozygous mutation 235delC was responsible for most of the affected members in the NSHI family.
%K NSHI
%K mutation
%K linkage analysis
%K GJB2<br>非综合征性耳聋
%K 突变
%K 连锁分析
%K β-2型间隙连接蛋白
%U http://www.alljournals.cn/get_abstract_url.aspx?pcid=90BA3D13E7F3BC869AC96FB3DA594E3FE34FBF7B8BC0E591&jid=3E23F50E071DF18E21B2F5AEE4F1FA5E&aid=76661DFB2D09C1C9&yid=A732AF04DDA03BB3&vid=771469D9D58C34FF&iid=0B39A22176CE99FB&sid=9D453329DCCABB94&eid=5BC9492E1D772407&journal_id=0253-9772&journal_name=遗传&referenced_num=0&reference_num=23