语前聋患儿GJB2基因35delG突变研究.pdfVIP

c】B2基因35delG突变研究 第2O · 2s71· collagen fibrils in stress—incontinent women of fertile age．Acta Obstet tire tissue of vaginal wall of women with stress urinary inconti— nence．ZhonghHa Fu Chan Ke Za Zhi，2006，41(12)：810 Gynecol Scand，1998，77(1)：87 (2007—1 1-12 收稿) 5 Henriet P，Comet PB，Lemoinc P et a1．Circulating ovarian steroids and endometrial matrix metalloproteinases(MMPs)．Ann N Y Acad Sei， [编校 徐 强] 2002，955(1)：119 6 Falconer C，Blomgren B，Johansson O et a1．Different organization of 语前聋患儿GJB2基因35delG突变研究 付四清 陈观明① 董家曙② 华中科技大学同济医学院医学遗传研究室 (湖北 武汉) 430030 中国图书分类号 R764 文献标识码 B 文章编号20O8)20-2871-02 【摘 要】 目的：探讨72例语前聋患儿缝隙连接蛋白beta 2(gap junction protein beta 2，GJB2)基因35de!G突变。方法： 收集72例散发的语前聋患儿，利用聚合酶链式反应一限制性片段长度多态性 (PCR—RFLP)分析方法，筛查患者及100例正常 对照的GJB2基因35delG突变。结果：经PCR—RFLP分析，有1例患儿GJB2基因存在35delG纯合性突变，2例正常对照存在 35delG杂合性突变，其余患儿及听力正常者无此突变。结论：GJB2基因35delG突变不是导致语前聋的主要原因。 【关键词】 语前聋 GJB2基因 突变 Study on the mutation of 35 delG in GJB2 gene in patients with prelingual deafness FU Si—Qing，CHEN Guan—Ming，DONG．， 一Shu．Department of Medical Genetics，To~aji Medical College，Hua— zhong University ofScience and Technology，Wuhan 430030，Hubei，China (Abstract] Objective：To determine the prevalence and characteristics of the 35 del G mutation in the GJB2 gene in children with prelingual deafness．Methods：72 prelingual deaf children were obtained，and screened for the 35delG mutation in the GJB2 gene by poly— merase chain reaction(PCR)and reStriction endonuclease．Results：1 of 72 prelingual deaf children WaS found to have homozygous 35delG mutation．and 2 of the normal controls harbored heterozygous 35de1G mutation in the GJB2 gene．The 35de1G mutation was not observed