Analysis of deafness-related genes test results in135 deaf college students

PAN Lei; CHEN Yaqiu; LIU Jin; LIU Hongyan

doi:10.3969/j.issn.1672-2922.2016.03.010

Abstract：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.