200例非综合征型聋患者GJB3和GJB6基因突变分析

GJB3 and GJB6 Genes Screening in 200 Non-Syndromic Hearing Impairment Patients

目的研究广东、湖南和广西三省非综合征型聋患者GJB3和GJB6基因突变的特征。方法选择200例来自广东、湖南和广西三省的非综合征型聋患者,提取外周血DNA,PCR扩增后,进行GJB3、GJB6基因编码区测序和GJB6大片段缺失del(GJB6-D13S1830)及del(GJB6-D13S1854)突变检测。结果 200例患者中发现GJB3 580G>A杂合突变2例,其中1例为GJB2 109G>A和GJB3 580G>A复合杂合突变,250G>A杂合突变1例,474G>A杂合突变1例,357C>T杂合突变35例,纯合突变1例,474G>A为首次发现。GJB3等位基因突变频率为1%(4/400)。未发现GJB6基因突变。结论本组广东、湖南和广西三省非综合征型聋患者GJB3基因等位基因突变率为1%;GJB6基因突变致聋罕见。

Objective To investigate the mutation spectrum of GJB3 and GJB6 in non-syndromic hearing impairment patients in Guangdong,Hu＇nan and Guangxi provinces. Methods Two hundred patients from Guangdong,Hu＇nan and Guangxi provinces were enrolled in this study.Peripheral bloods DNA of patients were extracted.After PCR reactions,DNA fragments were screened for GJB3 and GJB6 coding exons.Large deletion of GJB6 del（GJB6-D13S1830） and del（GJB6-D13S1854） mutation were also analyzed. Results Four types of GJB3 mutations,including 250GA,580GA,357CT and 474GA were found.GJB3 allele frequency was 1%（4/400）.Hwever no GJB6 mutation was found. Conclusion GJB3 allele frequency account for 1% of non-syndromic hearing impairment in Guangdong,Hu＇nan and Guangxi provinces.But GJB6 mutation is rare.