135例听力障碍大学生聋病易感基因检测结果分析

摘要

Objective To study prevalence of 20 mutations in four genes among college students with hearing impair-ment in order to detect deafness-related gene disorders and provide a basis for prevention and control of deafness. Methods Using Matrix assisted laser ion time-of-flight mass spectrometry,peripheral blood were collected from 135 deaf college stu-dents for detection of mutations in four gene, i.e. GJB2, GJB3, SLC26A4 and mitochondria 12SrRNA. Results The rate of mu-tations detection in the 135 subjects was 57.04%, including 23 cases of heterozygous mutations, 34 cases of homozygous mutations and 20 cases of compound heterozygous mutations. The c.235 delC mutation accounted for 91.11% (41/45) of GJB2 gene mutations and c.IVS7-2A>G accounted for 79.31%(23/29)of SLC26A4 gene mutations. For the 12SrRNA gene, there were only 3 cases of homogeneity mutations of m.1555A locus. Check out 1 cases of heterozygous mutations of c.547G> A locus in GJB3 genes. Conclusions In the 135 cases, the rate of GJB2, GJB3, SLC26A4 and mitochondria 12SrRNA gene mutations was 57.04%. The c.235 delC mutation is the most common GJB2 gene mutation, while c. IVS7-2A>G is common in SLC26A4 gene mutations. There were only a few cases of mitochondria 12SrRNA gene mutation, which is closely related to aminoglycoside drugs ototoxicity. GJB3 gene mutations appear rare. Testing of deafness-related genes in patients with hearing loss will not only help provide clear etiology at the level of molecular diagnosis, but also tar-geted prevention and genetic counseling for deafness, as well as potentially improving the gene pool.%目的：对听力障碍大学生进行聋病易感基因检测，了解常见聋病易感基因四个基因20个位点的突变情况，为耳聋的防治提供依据。方法应用基质辅助激光解析离子飞行时间质谱技术，通过采集末梢血检测135例听力障碍大学生的GJB2、GJB3、SLC26A4和线粒体12SrRNA基因的20个突变位点。结果135例受检者中77例存在基因突变，突变率为57.04%；杂合突变23例，纯合突变34例，复合杂合突变20例。c.235delC突变占GJB2基因突变的91.11%（41/45）；c.IVS7-2A>G突变占SLC26A4基因突变的79.31%（23/29）；12SrRNA基因仅检出3例m.1555A>G同质性突变；GJB3基因检出c.547G>A杂合突变1例。结论135例受检者中GJB2、GJB3、SLC26A4和线粒体12SrRNA基因突变率为57.04%；c.235delC是GJB2基因的常见突变位点；c.IVS7-2A>G是SLC26A4基因的常见突变位点；检出少数与氨基糖苷类药物耳毒性密切相关的线粒体12SrRNA基因突变；GJB3基因突变率不高。通过对听力障碍人群进行聋病易感基因检测，从分子诊断水平明确病因，进行耳聋靶向预防突变和遗传咨询，提高优生优育。