【摘要】 目的研究白族和彝族耳聋人群GJB2基因的突变情况.方法对白族、彝族和汉族的耳聋患者及正常人群GJB2基因进行测序分析,研究该基因的突变位点、突变频率及该基因与遗传性非综合症性耳聋的相关性.结果发现了GJB2基因的三种突变方式:79G-A突变、341A-G突变和235delC突变.结论 79G-A突变与遗传性非综合症性耳聋有极高的相关性;341A-G、235delC这两种突变不仅与非综合症性耳聋有密切的相关性.更多还原

【Abstract】 Objective To study of GJB2 mutations in Yi and Bai people with non-syndromic hearing loss (NSHL) in Yunnan province.Methods We observed the sequencing of GJB2 gene in both healthy and NSHL people in Yi and Bai ethnic to study mutation situs,mutation frequency of GJB2 gene and the relationship between GJB2 gene and NSHL.Result Three sequence changes were found:79G-A,341A-G,235delC. Conclusions 79G-A and NSHI are closely correlated. In addition,341A-G and 235delC are closely correlated with NSHI.更多还原