中国散发听力损失患者中GJB2基因突变分子流行病学研究  

Molecular Epidemiological Study of GJB2 Mutation in Chinese Hearing Loss Population

作　　者：李庆忠[1] 王秋菊[1] 迟放鲁[1] 李丽娜[1] 袁虎[1] 赵雅丽[2] 刘穹[1] 兰兰[1] 韩东一[2] 

机构地区：[1]复旦大学附属眼耳鼻喉科医院耳鼻咽喉科,上海200031 [2]解放军总医院耳鼻咽喉研究所耳鼻咽喉头颈外科,北京100853

出　　处：《中国眼耳鼻喉科杂志》2006年第5期310-313,共4页Chinese Journal of Ophthalmology and Otorhinolaryngology

基　　金：国家自然基金面上项目(30370782;30470956);复旦大学上海医学院青年骨干科研启动基金(05L-A-06);北京市重大科技项目课题(H020220020610)

摘　　要：目的在一组中国北方耳聋人群中进行 GJB2基因突变分子流行病学研究。方法调查214例散发聋病患者,分布在中国长江以北的14个省份,全部为汉族;另外募集正常听力者86名作为对照针对GJB2的编码区进行 PCR 扩增,然后直接测序检测突变,对测序结果进行分析。结果检测到 GJB2基因9种序列改变方式,其中良性多态有2种(79G→A、341A→G),致病突变6种(35delG、109G→A、235delC、504insGCAA、299-300delAT 和176-191dell6),另有一种序列改变方式(455A→C)。耳聋患者中携带纯合致病变10例,其中109G→A纯合突变3例,235delC 纯合突变7例;有21例患者携带 GJB2基因杂合致病突变,其中235delC 杂合突变9例,109G→A杂合突变6例,176-191dell6杂合突变3例,504insGCAA 杂合突变1例,35delG 杂合突变1例.299-300delAT 杂合突变1例。21例患者中复合杂合突变(235delC/176-191dell6、235delC/504insGCAA、455A→G/109G→A)3例。结论在中国耳聋人群中235delC 突变率最高,在语前聋患者中更是这样;而 GJB2基因的35delG 在中国耳聋人群中并不常见。GJB2基因突变在听神经病患者中的作用还有待进一步研究,GJB2基因突变可能不是导致大前庭水管综合征耳聋病理基础。Purpose To determine the frequency of GJB2 mutations in Chinese hearing loss population in the North China. Methods Mutation screening of GJB2 gene in hearing loss population and normal control was performed. 214 patients with hearing loss and 86 normal controls underwent mutation sereening of the single ccxting exon of GJB2 with bidirectional sequencing to identify sequence alternations. Results Two polymorphisms were found, 79G→A, 341A→ G; six pathologic mutations were identified： 35delG, 109G→ A, 235delC, 504ins GCAA, 299-300del AT and 176-191del16. A new sequence alternation was seen, 455A→G. There were 10 nomozygote mutations and 21 heterozy gore mutations. Conclusion The 235delC mutation was found to be the signification cause of hearing loss in Chinese population. 35delG is not a common cause in congenital hearing loss population. In auditory neuropathy group, only one pathopoiesis mutation （109G→A） was found. In LVAS （large vestibular aqueduct syndrome group ）, no pathopoiesis mutation was found. （Chin J Ophthalmol and Otorhinolaryngol, 2006,6- 310 - 313）

关 键 词：耳聋 遗传性聋 GJB2 基因突变 分子流行病学 

分 类 号：R181.3[医药卫生—流行病学]