中国常染色体显性遗传非综合征型耳聋人群缝隙连接蛋白31基因突变分析  

Mutation analysis of GJB3 in Chinese population with DFNA

作　　者：孙勍[1] 袁慧军[2] 刘新[2] 于飞[2] 康东洋[2] 张昕[2] 戴朴[2] 韩东一[2] 

机构地区：[1]武警总医院耳鼻咽喉头颈外科,北京100039 [2]解放军总医院耳鼻咽喉研究所,北京100853

出　　处：《中国耳鼻咽喉头颈外科》2008年第11期625-627,共3页Chinese Archives of Otolaryngology-Head and Neck Surgery

基　　金：国家自然科学基金面上项目(30371523);国家自然科学基金海外青年学者合作基金(30528025)联合资助

摘　　要：目的研究缝隙连接蛋白31编码基因(GJB3)突变在中国常染色体显性遗传非综合征型耳聋(autosomal dominant non-syndromic hearing loss,DFNA)人群中的特征,了解中国DFNA家系GJB3基因突变发生率及突变谱。方法应用聚合酶链反应产物直接测序方法对31个中国DFNA家系先症者进行GJB3基因编码区突变检测及鉴定。结果在31例先症者中发现已报道的GJB3基因的两种单核苷酸改变,其中,4例存在357C>T杂合碱基改变,1例存在357C>T纯合碱基改变;357C>T碱基改变没有引起氨基酸变化;1例受检者存在250G>A杂合碱基改变,250G>A引起GJB3 84位编码氨基酸缬氨酸变成异亮氨酸(V841)。结论在中国DFNA人群中,没有发现GJB3基因新的突变形式,初步结果提示,GJB3基因突变在中国DFNA耳聋群体中不常见。OBJECTIVE To investigate the contribution of the GJB3 gene（encoding connexin 31）mutations in Chinese population with autosomal dominant non-syndromic hearing loss （DFNA）. METHODS PCR were performed with one pair of primer in the coding sequence of GJB3gene. Bidirectional sequencing of PCR products was subsequently applied in 31 patients with DFNA. RESULTS Thirty one Chinese DFNA families （in each family affected members〉~5） were screened. Mutation analysis revealed that 6 cases carried 2 kinds of GJB3 sequence variants which were known polymorphisms. Four patients carried heterozygosis base pair changes： 357C〉T. One patient carried homozygosis base pair changes： 357C〉T. The another was a novel mutation：250G〉A, resulted in amino acid change,V84. CONCLUSION These studies suggest that mutations in GJB3 may be not common in Chinese DFNA populations.

关 键 词：聋 GJB3基因 突变 

分 类 号：R764[医药卫生—耳鼻咽喉科]