健康汉族孕妇GJB2基因突变产前筛查分析  

Prenatal screening for mutations in GJB2 gene in healthy Han pregnant women

作　　者：李珊珊[1,2] 王琳琳[1,2] 吕巍[1,2] 杨树法[1,2] 于璐[1,2] 

机构地区：[1]首都医科大学附属北京妇产医院 [2]北京妇幼保健院遗传代谢实验室,100026

出　　处：《检验医学与临床》2015年第17期2556-2559,共4页Laboratory Medicine and Clinic

摘　　要：目的确定健康汉族孕妇的GJB2基因突变产前筛查。方法对475例研究对象基因组DNA提取,聚合酶链反应扩增,基因芯片检测GJB2、GJB3、SLC26A4及线粒体12SrRNA 4个基因9个位点;直接测序检测其GJB2突变谱情况。结果利用耳聋基因芯片,检出15例研究对象携带6种致病突变,包括14例杂合突变:GJB2基因检出3个框移突变,176-191del 16、235del C和299-300del AT,35del G未检出;SLC26A4基因检出2个错义突变,2168A>G和IVS7-2A>G;检出1例线粒体12SrRNA 1555A>G纯合型突变。直接测序法检测整个GJB2编码区,检出176-191del 16、235del C、299-300del AT、109G>A 4种致病突变;79G>A、341A>G、478A>G和608T>C 4种多态性;11G>A、187G>T、372G>A、558G>A 4种未分类突变。其中211例研究对象至少携带1种GJB2突变,占检测总数的44.4%。结论该研究有助于孕妇产前耳聋基因突变的筛查分析,辅助孕妇遗传性听力损失的遗传咨询。Objective To determinate the prenatal screening of mutations of the major deafness gene GJB2 in healthy Han pregnant women .Methods The gene DNA extraction and amplification was performed in 475 healthy Han pregnant women as the research subjects .9 loci of GJB2 ,GJB3 ,SLC26A4 and mitochondria12S rRNA were de‐tected by the DNA microarray analysis .The direct DNA sequencing was used for detecting the GJB2 mutation situa‐tion .Results The deafness gene microarray analysis showed six types of pathogenic mutations in 15 research sub‐jects ,including 14 cases of heterozygous mutation：3 frameshift mutations in GJB2 gene ,non‐mutation was detected in 176‐191 del 16 ,235del C and 299‐300del AT ,35del G ;2 missense mutations in SLC26A4 gene ,2168A〉G and IVS7‐2A〉G ;1 case of mitochondria12S rRNA 1555A〉 G homozygotic type mutation was detected out .The whole GJB2 coding region was detected by the direct DNA sequencing ,including 4 kinds of detected pathogenic mutation 176‐191del 16 ,235del C ,299‐300del AT and 109G 〉 A ,4 kinds of polymorphism 79G〉 A ,341A 〉 G ,478A 〉 G and 608T〉C and 4 kinds of non‐classification mutation11G〉 A ,187G〉 T ,372G〉 A and 558G〉 A .Among them ,211 subjects carried at least 1 kind of GJB2 mutation ,accounting for 44 .4% of the detected total number .Conclusion This research is conducive to screening analysis of prenatal deafness gene mutation and assisted genetic counselling for hereditary hearing loss .

关 键 词：突变频率 GJB2基因突变 遗传性耳聋 

分 类 号：R764.430.2[医药卫生—耳鼻咽喉科]