connexin 26基因突变与国人遗传性无综合征耳聋相关性分析  

Study on mutations in the connexin 26 gene among Chinese with nonsyndromic hearing loss

作　　者：柯肖枚[1] 路远 刘玉和[1] 卜定方[2] 朱平[3] 戚豫[2] 刘学忠 

机构地区：[1]北京大学第一医院耳鼻咽喉科,北京100034 [2]北京大学第一医院中心实验室,北京100034 [3]北京大学第一医院血液内科,北京100034 [4]Human Genetics and Otorhinolaryngology

出　　处：《中华耳鼻咽喉科杂志》2001年第3期163-165,I001,共4页Chinese Journal of Otorhinolaryngology

摘　　要：目的　分析国人遗传性无综合征耳聋与缝隙连接蛋白 2 6 (connexin 2 6 ,Cx 2 6 )基因突变相关性 ,从分子水平探讨该病的发病机理。方法　收集国人 35个无综合征耳聋家系中 138名成员 ,99例散发的无综合征耳聋患者以及 10 0份健康对照个体的外周血DNA样本共 337份 ;采用聚合酶链反应 单链构像多态性 (polymerasechainreaction singlestandconformationalpolymorphism ,PCR SSCP)分析方法 ,初筛受试者Cx 2 6基因部分编码区的突变 ,发现异常电泳带的PCR产物直接序列分析。结果　PCR SSCP检出 2个家系 5例耳聋成员异常泳带的样本。 2个常染色体遗传性耳聋家系发现所有 5例患者Cx 2 6基因的编码区 2 33 2 35位碱基C纯合性缺失 ,导致移码突变 ,这 2个家系听力正常者为杂合性突变或无此突变。结论　国人遗传性无综合征耳聋患者的Cx 2 6基因突变热点可能与其他人种不同。Cx 2 6基因编码区 2 33 2 35位碱基C纯合性缺失可致常染色体隐性遗传性聋 。Objective To study the relation between nonsyndromic hearing loss in Chinese and mutations in connexin 26 (Cx 26) gene and to explore the pathogenic mechanism. Methods One hundred and thirty eight individuals from thirty five pedigrees with nonsyndromic hearing loss, 99 children with sporadic nonsyndromic hearing loss and 100 normal adults as control were collected in present studies. The Cx 26 coding sequence was screened by single strand conformational polymorphism (SSCP) and analyzed by direct sequencing when SSCP shifts were observed. Results Five SSCP shifts in 2 pedigrees were observed. Homozygous deletion C at position 233 235 of Cx 26 cDNA, which resulted in frameshift mutation, was found in 2 pedigrees with nonsyndromic hearing loss. Conclusion The hot spot mutations of Cx 26 gene in Chinese with nonsyndromic hearing loss may be different from other ethnic groups. The 233 235 delC homozygous mutation of Cx 26 cDNA can result in autosomal recessive nonsyndromic hearing loss in Chinese population.

关 键 词：聋 连接蛋白 基因突变 遗传病 CX26 PCR-SSCP 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]