傣族、汉族非综合征型耳聋患者GJB2基因分析

Analysis of GJB2 Gene in Non-syndromic Hearing Loss from Dai and Han Ethnic Group

目的分析云南省普洱地区傣族、汉族非综合征型耳聋患者GJB2基因编码区核苷酸序列.方法采集同一地区的傣族(20例)、汉族(74例)非综合征型耳聋患者(共94例)及152例健康人群(40例傣族和112例汉族)的外周静脉血,提取基因组DNA,进行GJB2基因编码区的PCR扩增,并对PCR产物进行测序,检测GJB2基因的突变位点.结果 GJB2基因检测发现了6种常见核苷酸序列的改变方式,包括79G→A、341A→G、109G→A、235delC、608T→C和257-258GC to CG.对照组中未检测到235delC致病突变.在94例非综合征型耳聋患者中发现3例(傣族1例,汉族2例)携带235delC纯合突变(3.19%).其余5种碱基改变为常见的多态性变化.结论相对于中国内地的汉族而言,普洱地区的傣族、汉族非综合征型耳聋患者GJB2基因235delC的突变率较低.

Objective To investigate the features of GJB2 gene coding region in non-symdromic deaf patients from Dai and Han ethnic group of Simao Region.Methods DNA was extracted from peripheral blood samples of 94 non-syndromic deaf patients（20 Dai and 74 Han ethnic group） and 152 healthy controls（40 Dai and 112 Han ethnic group）in the Pu＇er Area.GJB2 gene coding region mutation was analyzed by polymerase chain reaction（PCR）and direct sequencing method.Results Six types of GJB2 gene variants were detected,which included 79G→A、341A→G、109G→A、235delC、608T→C and 257-258GC to CG.235delC genotype was not found in the control group.Three patients（1 Dai and 2 Han ethnic group）in 94 deafness patients were found carrying 235delC homozygous mutation（3.19%）.The other five variants were confirmed common polymorphism.Conclusion The frequence of 235delC genotype of GJB2 gene coding region is lower in Dai and Han ethnic group of Simao Region compared with Han ethnic group in other province.