遗传性耳聋基因芯片检测的临床应用研究  

Research on clinical application of genetic diagnosis technology for deafness gene mutation

作　　者：陈鑫苹[1] 徐卫华[1] 符生苗[1] 李晓娟[1] 何敦雄[2] 

机构地区：[1]海南省人民医院中心实验室,海南海口570301 [2]海南省人民医院医学检验部

出　　处：《现代预防医学》2012年第19期5103-5105,5108,共4页Modern Preventive Medicine

摘　　要：目的探讨遗传性耳聋基因芯片检测的临床意义,评价其在临床上快速检测常见遗传性耳聋基因的可行性。方法研究对象为105例聋哑患儿,取外周血5ml,分离提取全血淋巴细胞基因组DNA,用遗传性耳聋基因芯片检测中国人中常见的4个耳聋相关基因上的9个热点突变,包括GJB2(35delG,176del16bp,235delC及299delAT),GJB3(C538T),SLC26A4(IVS7-2A﹥G、2168A﹥G)和线粒体DNA12S rRNA(A1555G、C1494T)。结果在105例样本中,共检出17例携带致聋突变(16.19%)。其中,线粒体DNA 12S rRNA1555A﹥G异质突变1例(0.95%);GJB2基因突变7例(6.67%),包括235delC纯合突变2例,235delC/GJB2299delAT复合杂合突变2例,235delC单杂合突变3例;SLC26A4基因突变9例(8.57%),包括IVS7-2A﹥G纯合突变1例,2168A﹥G纯合突变1例,IVS7-2A﹥G单杂合突变3例,2168A﹥G单杂合突变4例。未检出GJB3基因突变。结论耳聋相关基因突变位点在我国也具有较高的阳性率,基因检查方法和以往传统的检测想法相比,具有准确性高、速度快、假阳性率低的优点,而且该检查方法操作简便,建议临床上进一步推广运用。OBJECTIVE To discuss the clinical significance that the genetic diagnosis of deafness gene mutation based on DNA microarray,and to evaluate the usability and reliability of DNA microarray on deafness gene mutations.METHODS 105 hospitalized deaf patients were included in this study.Their genomic DNA were extracted from peripheral blood,and detected with the DNA microarray which was able to perform mutation detection of 9 hot-spot mutations in four most common pathologic genes,including GJB2（35delG,176del16,235delC,299delAT）,GJB3（C538T）,SLC26A4（IVS7-2A﹥G、 2168A﹥G） and mitochondrial 12S rRNA（A1555G,C1494T）.RESULTS Of 105 cases,17 cases carried deafening mutations（16.19%）,in which 1 case had 1555 A﹥G mutation（0.95%）,7 had GJB2 mutation（6.67%） which included 2 cases that had 235 del C homozygous mutant,2 were found out to be carriers of 235 del C /GJB2 299 del AT heterozygous mutation,3 had GJB2 235delC heterozygous mutation and 9 has SLC26A4 mutation（8.57%） in which there was 1 case IVS7-2 A﹥G homozygous mutation and 1 case 2168 A﹥G homozygous mutation.3 had IVS7-2 A﹥G single heterozygous mutation and 4 had 2168 A﹥G single heterozygous mutation none was found out to be carriers of GJB3 mutation.CONCLUSION The genetic diagnosis technology of nine deafness gene mutation based on DNA microarray is proved to be have some advantages in genetic diagnosis of common mutation genes,such as rapid and high performance and accuracy.Compared with traditional methods,it is fast,and have high throughput,high accuracy and other characteristics.We think its characteristics make it fit to be used in clinical genetic diagnosis.

关 键 词：耳聋 GJB2基因 SLC26A4基因 GJB3基因 线粒体DNA 突变 基因芯片 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]