邯郸地区健康体检人群线粒体DNA A1555G和C1494T突变分析

Analysis on mitochondrial DNA A1555G mutation and C1494T mutation among population receiving health physical examination in Handan area

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 carrier rates of mitochondrial DNA A1555G mutation and C1494T mutation among popu- lation receiving health physical examination in Handan area, and identify the molecular basis of nonsyndromic hearing loss. Methods： Pub- licity about common deafness genetic screening among population receiving health physical examination was conducted, peripheral blood sam- pies were abstracted from every study object, and DNA samples were obtained, PCR was used to amplify segments of mitochondrial 12SrRNA gene, the sequences of two gene segments of mitochondrial 12SrRNA gene were detected by direct sequencing method. Results： Among 2 308 respondents receiving health physical examination, 2 000 respondents received common deafness genetic screening, the acceptance rate was 86. 96%. Two gene segments of mitochondrial 12SrRNA gene from DNA samples of 2 000 study objects were amplified, the size of prod- uct was consistent with expectant size. Among 2 000 study objects, 3 study objects （0. 15% ） carried A1555G point mutation of mitochondri- al 12SrRNA gene, including one man and two women; one man （0.05%） carried C1494T point mutation of mitochondrial 12SrRNA gene. Conclusion ： The acceptance level of common deafness genetic screening is high among the population receiving health physical examination, and it can be used for early diagnosis, genetic consultation, and directing prevention of drug - induced deafness among the family members if it is included into routine items of health physical examination, so deafness can be avoided effectively among high risk population.