线粒体基因组A1555G突变在中国非综合征性聋患者中的流行病学分析

目的检测线粒体基因组12SrRNA、基因A1555G突变在中国非综合征性聋患者中的携带频率,探讨中国非综合征性聋的分子病因的流行病学意义。方法提取中国人群中22例氨基糖甙类药物致聋患者、158例散发的非综合征性聋患者以及60例非综合征性聋家系先证者的DNA,以聚合酶链反应结合限制性内切酶酶解分析法检测线粒体基因组A1555G突变的发生情况。结果线粒体基因组A1555G阳性患者占所有耳聋患者的4.2%,散发病例组中A1555G阳性率为1.3%,非综合征性聋家系组中A1555G阳性率为13.3%,22例氨基糖甙类药物致聋患者中未发现A1555G突变。结论线粒体基因组A1555G的突变发生率略高于以往报道,是非综合征性聋家系中致聋的主要病因之一,这对于中国人群耳聋的病因学研究有积极意义。

Epidemiological analysis of mitochondrial DNA A1555G mutation in non -syndromic hearing loss of Chinese population

Objective:To investigate the frequency of mitochondrial 12S rRNA gene A1555G mutation among Chinese population with sensorineural deafness.Methods:Blood samples from 240 non-syndromic hearing loss individuals including 22 aminoglycoside antibiotics induced hearing loss patients,158 sporadic non-syndromic hearing loss patients and 60 probands of pedigrees with non-syndromic hearing loss were obtained and DNA was extracted from the leukocytes,then the mitochondrial DNA target fragments were amplified by polymerase chain reaction(PCR).The 1555G mutations were detected by Alw26I restriction endonuclease digestion. Results:The percentage of A1555G mutation was 4.2% in the all non-syndromic hearing loss individuals.The percentage of A1555G mutation was 1.3% in sporadic non-syndromic hearing loss patients,and 13.3% in the pedigrees with non-syndromic hearing loss.No mutation was detected in the group of aminoglycoside antibiotics induced hearing loss. Conclusion:Incidence of the mitochondrial DNA A1555G mutation was much higher than that of other report.A1555G mutation may play a role in the pathogenesis of non-syndromic hearing loss in family.