摘要
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1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。
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.
出处
《中国优生与遗传杂志》
2014年第9期137-138,共2页
Chinese Journal of Birth Health & Heredity