湖州地区聋哑学校68名聋哑学生耳聋易感基因突变分析研究

目的研究4个耳聋易感基因GJB2、GJB3、SLC26A4、线粒体12SrRNA在湖州市聋哑学校68名聋哑学生中的突变类型分布情况。方法应用飞行时间质谱技术，对68名聋哑学生进行GJB2、GJB3、SLC26A4、线粒体12SrRNA 4个耳聋易感基因检测，检测位点包含以上基因的20个热点突变。结果68名聋哑学生中共检出耳聋基因突变27例，阳性率39.71％，其中GJB2基因突变19例，占70.37％；GJB3基因突变l例，占3.7％；SLC26A4基因突变5例，占18.52％；线粒体12SrRNA基因突变2例，占7.41％。结论在湖州市聋哑学校中，GJB2是最常见的耳聋突变基因，235delC是GJB2基因最常见的突变位点。

Study on the deafness suscepatibilily genes in Huzhou School for the deaf studens 68 cases

Objective： Study 4 deafness susceptibility genes GJB2, GJB3, SLC26A4, Mitochondrial 12SrRNA in Huzhou City School for the Deaf 68 deaf students in the distribution of mutations. Methods： Application of flight mass spectrometry technology, the 68 deaf students GJB2, GJB3, SLC26A4, mitochondrial 12SrRNA 4 Deaf susceptibility gene detection, detection sites contain more than 20 gene mutation hotspots. Results： 68 deaf students deafness mutations were detected in 27 cases, the positive rate of 39.71%, which GJB2 gene mutation in 19 cases, accounting for 70.37%; GJB3 gene mutation one case, accounting for 3.7%; SLC26A4 gene mutations in five cases, accounting for 18.52%; mitochondrial 12SrRNA gene mutation in 2 cases, accounting for 7.41%. Conclusion： In school for the deaf in Huzhou City, GJB2 mutation is the most common deafness genes, 235delC is the most common mutation of GJB2.