河北邯郸地区非综合征性耳聋患者GJB2基因突变分析  

Mutation analysis of GJB2 gene in non-syndromic hearing impairment patients of Hebei handan region

作　　者：要跟东[1] 李守霞[2] 张小芳[2] 刘永杰[1] 孙彩霞[2] 陈丁莉[2] 

机构地区：[1]邯郸市中心医院 [2]邯郸市中心医院检验科,河北邯郸056001

出　　处：《国际检验医学杂志》2013年第5期524-525,529,共3页International Journal of Laboratory Medicine

基　　金：邯郸市科学技术研究与发展项目(1113108017)

摘　　要：目的利用基因诊断的方法调查邯郸市聋哑学校非综合征性耳聋患者的常见分子生物学病因,对GJB2基因编码区突变进行分析,为耳聋基因的筛查和产前诊断提供实验和理论依据。方法采集100名非综合征性耳聋患者静脉血,男性58例,女性42例,用于GJB2基因的PCR扩增,应用直接测序法分别对GJB2基因的2个基因片段进行直接测序。结果以100例患者的DNA样本(GJB2基因的2个基因片段)进行PCR扩增,扩增产物片段大小与预期相符。被检测的100名聋哑学校非综合征性耳聋患者中,携带GJB2基因235delC纯合突变的11例(占11%),携带GJB2基因单杂合突变和复合杂合突变的19例(占19%);其中男性16例,女性14例,男女检测结果无统计学差异(P>0.05)。结论河北省邯郸地区特教学校耳聋患者存在较高的GJB2基因235delC纯合突变及携带GJB2基因单杂合突变和复合杂合突变,GJB2基因突变为河北省邯郸地区最主要的致病突变形式,因此通过其突变筛查可以有效避免高危人群出现耳聋。Objective To investigate the genetic causes of non-syndromic hearing impairment（NSHI）patients in special educational school of Handan city by genetic screening testing method and identify its molecular etiopathogenisis,to analyze mutations of coding sequence of GJB2gene,and to provide the experimental and theoretical basis for the screening and prenatal diagnosis of deaf genes.Methods 100non-syndromic hearing impairment（NSHI）patients accepted the gene screening.100non-syndromic hearing impairment（NSHI）patients were enrolled,including 58males and 42females.The expression of GJB2gene expression were detected by PCR methods.Application directly sequencing to detect the mutations of GJB2gene.Results DNA samples（GJB2gene two genetic fragments）of 100patients had amplification product the same segment size as expectations.100patients were diagnosed with non-syndromic hearing impairment（NSHI）,11causes（11%）showed homozygous GJB2 235delC mutation,and 19（19%） showed GJB2single heterozygous genes mutations and compound heterozygous GJB2mutation.Among them 16cases were male,14cases were female,there was no statistical significance between male group and female group（P0.05）.Conclusion Incidence of homozygous GJB2 235delC mutation,GJB2single heterozygous genes mutations and compound heterozygous GJB2mutation was high in the deaf population of Handan city.GJB2gene is the main pathogenic mutation forms.Molecular genetic screening for these mutations and genetic counseling are effective.

关 键 词：突变 非综合征性耳聋 基因 GJB2 序列分析 DNA 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]