重庆垫江地区耳聋基因检出率及基因型分布

Detection rate and genotype distribution of deafness genes in Dianjiang district of Chongqing

目的研究重庆市垫江地区耳聋基因检出率及基因型分布,为本地深入开展遗传性耳聋遗传咨询、预防、诊治及康复奠定基础。方法采用导流杂交技术对重庆垫江地区1836例非耳聋受检者及63例耳聋患者4个耳聋易感基因21个突变位点进行检测。结果1836例非耳聋受检者中,耳聋基因突变携带者95例,阳性率为5.17%。其中GJB2突变、SLC26A4突变、mtDNA突变及GJB3突变分别占耳聋基因突变携带者的38.95%(37/95)、26.32%(25/95)、32.63%(31/95)及2.11%(2/95)。63例耳聋患者中,共有40例患者检出耳聋基因突变,阳性率63.49%(40/63);其中GJB2突变、SLC26A4突变及mtDNA突变分别占耳聋基因突变患者的30%(12/40)、17.5%(7/40)及52.5%(21/40)。且在25例先天性耳聋患者中,以GJB2(9,36.0%)和SLC26A4(5,20.0%)突变基因检出为主;在24例自述药物性耳聋患者中,以mtDNA(15,62.5%)突变基因检出为主。结论垫江地区GJB2、mtDNA和SLC26A4突变率均较高,其中mtDNA突变率明显高于全国水平;且在耳聋患者中因药物使用不当使得mtDNA突变引起的药物性耳聋的发病率明显增高。

Objective To study the detection rate and genotype distribution of deafness genes in Dianjiang district of Chongqing,so as to lay the foundation for further genetic counseling,prevention,diagnosis,treatment and rehabilitation of hereditary deafness in the local area.Methods The 21 mutations of 4 deafness susceptibility genes in 1836 non-deafness subjects and 63 deafness patients in Dianjiang area of Chongqing were detected by diversion hybridization.Results Among 1836 non-deafness subjects,95 cases were deafness gene mutation carriers,with a positive rate of 5.17%.GJB2 mutation,SLC26A4 mutation,mtDNA mutation and GJB3 mutation accounted for 38.95%(37/95),26.32%(25/95),32.63%(31/95)and 2.11%(2/95)of the deafness gene mutation carriers,respectively.Among the 63 patients with deafness,40 patients were detected with deafness gene mutations,with a positive rate of 63.49%(40/63).GJB2 mutation,SLC26A4 mutation and mtDNA mutation accounted for 30%(12/40),17.5%(7/40)and 52.5%(21/40)of the patients with deafness gene mutations,respectively.In 25 cases of congenital deafness,GJB2(9,36.0%)and SLC26A4(5,20.0%)were the most common mutations.In 24 patients with self-reported drug-induced deafness,mtDNA(15,62.5%)mutations were mainly detected.Conclusion The mutation rates of GJB2,mtDNA and SLC26A4 in Dianjiang area are high,and the mtDNA mutation rate is significantly higher than the national level.In addition,the incidence of drug-induced deafness caused by mtDNA mutations is significantly increased due to improper drug use in deafness patients.