CAJ | 학술논문

目的：利用基因诊断的方法调查邯郸市聋哑学校非综合征型耳聋患者的常见分子病因，对线粒体12SrRNA 基因编码区突变进行分析，以明确非综合征型耳聋患者发病的分子学基础，为耳聋基因的筛查和产前诊断提供实验和理论依据。方法用 PCR 法检查100名聋哑学生（年龄6岁-17岁，男性58例，女性42例）线粒体12SrRNA 基因，直接测序法分别对线粒体12SrRNA 基因的2个基因片段分析。结果①100例研究对象中，被测者聋前或其母亲孕期明确应用过氨基糖甙类抗生素者30例（30％），30例中有4例（7．5％）存在线粒体基因 A1555G位点突变。②PCR 检测结果100例患者的 DNA 样本（线粒体12SrRNA 基因的2个基因片段）进行 PCR 扩增，扩增产物片段大小与预期相符。③测序结果100名聋哑学校非综合征型耳聋患者中，携带线粒体12SrRNA 基因 A1555G点突变的10例（占10％）；携带线粒体12SrRNA 基因 C1494T 点突变的2例（占2％）。结论河北省邯郸地区特教学校耳聋患者存在较高的线粒体12SrRNA 基因 A1555G 突变发生率，线粒体12SrRNA 基因 A1555G 突变发生率高于全国平均水平，通过其突变筛查可以有效避免高危人群出现耳聋。
목적：이용기인진단적방법조사함단시롱아학교비종합정형이롱환자적상견분자병인，대선립체12SrRNA 기인편마구돌변진행분석，이명학비종합정형이롱환자발병적분자학기출，위이롱기인적사사화산전진단제공실험화이론의거。방법용 PCR 법검사100명롱아학생（년령6세-17세，남성58례，녀성42례）선립체12SrRNA 기인，직접측서법분별대선립체12SrRNA 기인적2개기인편단분석。결과①100례연구대상중，피측자롱전혹기모친잉기명학응용과안기당대류항생소자30례（30％），30례중유4례（7．5％）존재선립체기인 A1555G위점돌변。②PCR 검측결과100례환자적 DNA 양본（선립체12SrRNA 기인적2개기인편단）진행 PCR 확증，확증산물편단대소여예기상부。③측서결과100명롱아학교비종합정형이롱환자중，휴대선립체12SrRNA 기인 A1555G점돌변적10례（점10％）；휴대선립체12SrRNA 기인 C1494T 점돌변적2례（점2％）。결론하북성함단지구특교학교이롱환자존재교고적선립체12SrRNA 기인 A1555G 돌변발생솔，선립체12SrRNA 기인 A1555G 돌변발생솔고우전국평균수평，통과기돌변사사가이유효피면고위인군출현이롱。
Objective To investigate the genetic causes of non- syndromic hearing impairment(NSHI)patients in special educational school of Handan city by genetic screening testing method and identify its molecular etiopathogeni-sis.This study focused on analyzing mutations of coding sequence of mitochondrial 12srRNA gene,the rapid genetic di-agnosis lay the foundation for deaf.Methods 100 deaf students (aged 6-17 years old,male,58 cases,female 42 cases) examinated mitochondrial 12SrRNA genes by PCR method.Application directly sequenced to detect by the mitochondri-al 12SrRNA gene.Results ① Using drugs situation 100 cases of research object,the respondents before or the deaf pregnancy used clear aminoglucoside the class antibiotic 30 cases (30%).In 30 cases have 4 cases (7.5%)exist mito-chondrial gene mutations A1555G sites.② PCR test results 100 cases patients with DNA samples (mitochondrial 12SrRNA gene two genetic fragments)PCR amplification,amplification product segment size with expectations.③Se-quencing results One hundred patients were diagnosed with non-syndromic hearing impairment (NSHI),10 causes (10%)carried mitochondrial A1555G mutation,and 2 causes(2%)carried mtDNA C1494T mutation.Conclusion Inci-dence of mtDNA A1555G mutation was high that in this deaf population from Handan city.The incidence of mtDNA A1555G was higher than the average of the Chinese deaf population.Molecular genetic screening for these mutations and genetic counseling are effective.