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目的:研究GJB6基因[连接蛋白30(Cx30)]在中国非综合征遗传性聋人群中的突变情况。方法:用特定引物对372例非综合征遗传性聋患者(其中295例分子病因不明,77例携带GJB2病理性单等位基因突变)和182例正常对照者进行聚合酶链反应,检测GJB6基因的342kb大片段缺失del(GJB6>D13S1830),并进行GJB6基因编码区扩增,以产物直接测序方法进行突变检测及鉴定。结果:372例耳聋患者中未发现GJB6del(GJB6>D13S1830),其中1例发现携带GJB6基因点突变404C>A,导致了氨基酸的错义改变T135K,多物种Cx30氨基酸序列进化分析证实该点位于Cx30高度保守的第3跨膜区。对照组中未发现同样突变。结论:GJB6基因突变在中国耳聋人群中整体发生频率较低,GJB6基因可暂不列为第一线耳聋基因检测项目。
Objective: To investigate the mutation of GJB6 gene [Cx30] in Chinese non-syndromic deaf population. Methods: 372 cases of non-syndromic hereditary deafness (295 cases of unknown etiological factor, 77 cases of GJB2 pathological single allele mutation) and 182 cases of normal controls were detected by polymerase chain reaction with specific primers. The GJB6 gene Of 342kb large deletion fragment del (GJB6> D13S1830), and GJB6 gene coding region amplification, direct sequencing of products to detect mutations and identification. Results: No GJB6del (GJB6> D13S1830) was found in 372 cases of deafness. One case of GJB6 gene mutation 404C> A was found, resulting in the missense change of amino acid T135K. The phylogenetic analysis of the Cx30 amino acid sequence confirmed that the site was located at Cx30 The highly conserved third membrane-spanning region. The same mutation was not found in the control group. Conclusion: The overall frequency of GJB6 mutations in Chinese deafness population is low, and GJB6 gene may not be temporarily classified as the first-line deafness gene testing project.