目的:调查邯郸地区健康体检人群线粒体DNA A1555G和C1494T突变的携带率,明确非综合征型耳聋患者发病的分子学基础。方法:对健康体检人群进行常见耳聋基因筛查内容的宣传,每个受检者抽取外周血并提取DNA,应于PCR对线粒体12SrRNA基因片段进行扩增,应用直接测序法分别对线粒体12SrRNA基因的2个基因片段进行直接测序。结果:①2 308名健康体检人群中,2 000名同意进行常见耳聋基因筛查,接受率达86.96%。②PCR检测结果:以2 000例研究对象的DNA样本进行线粒体12SrRNA基因的2个基因片段扩增,扩增产物片段大小与预期相符。③测序结果:被检测的2 000例研究对象中,3例(占0.15%)携带线粒体12SrRNA基因A1555G点突变,其中男性1例,女性2例;1例男性(占0.05%)携带线粒体12SrRNA基因C1494T点突变。结论:常见耳聋基因筛查在健康体检人群中接受程度高,如列入常规的体检项目中,可以用于早期诊断,遗传咨询和指导该家系成员预防药物性耳聋,可以有效避免高危人群出现耳聋。 OBJECTIVE: To investigate the prevalence of mitochondrial DNA A1555G and C1494T mutation in Handan people and to determine the molecular basis of the pathogenesis of nonsyndromic deafness. Methods: To disseminate the contents of common deafness gene screening in healthy physical examination population. Peripheral blood was drawn from each subject and DNA was extracted. The mitochondrial 12S rRNA gene fragment should be amplified by PCR. The mitochondrial 12S rRNA gene Two gene fragments for direct sequencing. Results: Among 2 308 health examination population, 2 000 people agreed to carry out common deafness gene screening, the acceptance rate was 86.96%. ②PCR test results: 2 gene fragments of mitochondrial 12S rRNA gene were amplified from DNA samples of 2,000 subjects, and the size of amplified products was in line with the expectation. ③ Sequencing results: Of the 2 000 subjects tested, 3 (0.15%) of the tested subjects carried the mitochondrial 12S rRNA gene A1555G point mutation, including 1 male and 2 female; 1 male (0.05%) carried mitochondrial 12S rRNA gene C1494T point mutation. Conclusion: Common deafness gene screening in the health examination population to accept a high degree, such as included in the routine physical examination project, can be used for early diagnosis, genetic counseling and guidance of the family members to prevent drug deafness, can effectively prevent high-risk populations deafness .