遗传性耳聋基因芯片在新生儿耳聋基因筛查中的应用

The application of genetic deafness gene chip in screening of neonatal deafness gene

目的:探索应用遗传性耳聋基因芯片对新生儿进行常见耳聋基因的筛查,为辅助临床诊断提供遗传咨询。方法:采集2085例新生儿足跟血,制成干血斑,提取血斑中淋巴细胞基因组DNA,用9项遗传性耳聋基因检测试剂盒检测中国人常见的4个耳聋基因的9个突变位点。结果:共检出73例突变,总突变率3.5%。其中GJB2突变28例,线粒体突变5例,SLC26A4突变34例,GJB3突变5例,三杂合突变1例(235delC杂合突变299delAT杂合突变IVS7-2A>G杂合突变)。结论:正常人群也会携带常见的遗传性耳聋突变基因,在新生儿期,检测出耳聋基因突变对遗传性耳聋的早期发现、预防及治疗有很大帮助。

Objective：To screen common deneness gene of newborn by genetic deafness gene chip,to use the result of genetic screening to assist clinical diagnosis,and to provide genetic counseling.Methods：The heel blood of newborns were collected and made for dried blood spots,and then lymphocyte DNA was extracted from the dried blood spots.Nine mutations of four common deafness genes of Chinese were tested by Nine Deafness Gene Mutations Detection Kit,which included GJB2（35delG/176del16/235delC/299delAT）,GJB3（C538T）,SLC26A4（IVS7-2AG/A2168G）and mitochondrion 12SrRNA（A1555G/1494T）.Results：Mutations were found in 73 cases,and the rate of mutation was 3.5%.Among the 73 cases,28cases were mutations of GJB2 gene,5cases were mutations of 12 SrRNA gene,34 cases were mutations of SLC26A4 gene,and 5cases were mutations of GJB3 gene,1case had three heterozygous mutation（235delC heterozygous,299 delAT heterozygous and IVS7-2AG heterozygous）.Conclusion：Normal persons maybe carry genetic deafness because of gene mutation,so deafness gene detection of newborns will help to find deafness mutation early,and it is also help for preventing and treating deafness.