遗传性耳聋基因芯片检测的临床应用研究

目的应用遗传性耳聋基因芯片对散发性耳聋患者进行耳聋基因筛查,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76例耳聋患儿,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、176del16、235delC及299delAT）、GJB3（C538T）、SLC26A4（IVS7-2A〉G、A2168G）以及线粒体12S rRNA（A1555G、C1494T）。结果在76例样本中,共检出9例突变,其中5例为SLC26A4IVS7-2A〉G杂合突变型;1例线粒体12S rRNA1555A〉G均质突变型;1例GJB2235delC/GJB2299delAT复合杂合突变型;1例GJB2235delC纯合突变型;1例SLC26A4IVS7-2A〉G纯合突变型。结论遗传性耳聋基因芯片对中国人中常见耳聋相关基因突变位点检出率高,可满足临床耳聋基因检测的要求,具有广阔的临床应用前景。

Research on the clinical application of DNA microarray on deafness gene mutations

Objective To investigate the usability and reliability of DNA microarray on deafness gene mutations. Methods 76 hospitalized deaf patients were included in this study. Their genomic DNA were extracted from peripheral blood, and detected with the DNA microarray which is 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（IVS7-2AG, A2168G） and mitochondrial 12S rRNA（A1555G, C1494T）. Results Of 76 samples, 5 were found out to be carriers of SLC26A4 IVS7-2AG heterozygous mutation, 1 has 1555 A G mutation, 1 has GJB2 235delC heterozygous mutation and GJB2 299delAT heterozygous mutation, 1 has GJB2 235delC homozygous mutation, 1 has SLC26A4 IVS7-2AG homozygous mutation. Conclusion The genetic diagnosis technology of nine deafness gene mutation based on DNA microarray was proved to be have some advantages in genetic diagnosis of common mutation genes, such as rapid and high performance and accuracy, which makes it fit to be used in clinical genetic diagnosis.