60例人工耳蜗植入患者常见耳聋基因检测分析

Analysis of common deafness genes in 60 patients with cochlear implantation

目的分析人工耳蜗植入患者遗传性耳聋的发病情况。方法采用聚合酶链反应及限制性内切酶方法,检测60例人工耳蜗患者耳聋易感基因GJB2 235del C、PDS IVS7-2A>G及线粒体DAN 12sRNA A1555G位点的突变情况。结果 60例人工耳蜗植入患者,共有33例患者携带常见致聋基因,总的突变率55.0%。包括235del C纯合突变6例(10.0%)、杂合突变7例(11.7%),PDS基因IVS7-2A>G纯合突变6例(10.0%)、杂合突变为12例(20.0%),线粒体12sRNA DNA A1555G阳性突变为2例(3.3%)。结论人工耳蜗植入患者主要致病原因为遗传因素,以PDS基因IVS7-2A>G为主,其次为GJB2基因235delC位点突变,部分患者为线粒体DAN 12sRNA A1555G位点突变。

Objective To analyze the incidence of hereditary hearing loss in patients with cochlear implantation. Methods Using polymerase chain reaction and restriction enzyme method,the mutations of 235 del C GJB2,IVS7-2A 〉G PDS and mitochondrial 12 sRNA A1555G DAN were detected in 60 patients with cochlear hearing loss. Results A total of 33 patients with genetic mutation were detected in60 cochlear implantation patients, and the total mutation rate was 55. 0%,including： 235 del C homozygous mutation in 6 cases（ 10. 0%）,7 cases with heterozygous mutation（ 11. 7%）; PDS gene homozygous IVS7-2A 〉G mutation in 6 cases（ 10. 0%）,heterozygous mutation in 12 cases（ 20. 0%）;DNA mitochondrial 12 sRNA A1555G mutation positive for 2 cases（ 3. 3%）. Conclusion The main causes of the disease are genetic factors,IVS7-2A 〉G gene PDS,followed by the 235 del C gene GJB2 site mutation. Some patients are mitochondrial 12 sRNA A1555G DAN site mutation.