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目的 分析中国人语前非综合征性耳聋 (NSHI)患者GJB2基因编码区的突变。方法采取来自浙江地区 43个独立家系的 43例语前NSHI患者 (包括隐性遗传和散发性 )血样 ,用 3对引物经聚合酶链反应 (PCR)扩增GJB2基因 ,产物依次部分重叠覆盖全部编码区 1～ 6 81bp片段 ;用单链构象多态性 (SSCP)分析法进行突变筛选 ,部分异常带型的PCR产物经T克隆、DNA测序以明确突变方式 ;对有GJB2基因突变的部分患者 ,做家系分析明确患者纯 /杂合子情况。结果 43例语前NSHI患者中 ,PCR SSCP呈明显异常带型者有 11例 ;测序发现 3种突变方式和 2种多态性改变 ,最常见的突变方式为 2 35delC。结论 中国人语前NSHI患者存在相当比例的GJB2基因的突变 ,且有数种不同的突变方式 ;中国人语前NSHI患者最常见的突变方式为 2 35delC。
Objective To analyze the mutations in the coding region of GJB2 gene in Chinese non-syndromic deafness (NSHI) patients. Methods 43 samples of NSHI patients (including recessive and sporadic) blood samples were collected from 43 independent families in Zhejiang province. Three pairs of primers were used to amplify the GJB2 gene by polymerase chain reaction (PCR), and the products were partially overlapped to cover all The coding region of 1 ~ 6 81bp fragment was screened by single strand conformation polymorphism (SSCP) analysis. The PCR products of some abnormal bands were identified by T cloning and DNA sequencing to identify the mutations. Some patients with mutations of GJB2 gene , Pedigree analysis of patients with clear / heterozygous conditions. Results Among the 43 cases of pre-NSHI patients, there were 11 cases with abnormal PCR SSCP. Three kinds of mutations and two kinds of polymorphisms were found by sequencing. The most common mutation was 235delC. Conclusions There is a considerable proportion of mutations in GJB2 gene in Chinese pre-NSHI patients with several different mutation patterns. The most common mutation in Chinese NSHI patients is 235delC.