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目的调查邢台市聋哑学校耳聋患者线粒体DNA m.C1494T和m.A1555G突变情况。方法对2013-2014年河北省邢台市聋哑学校的115例耳聋学生进行遗传性耳聋问卷调查、体格检查和听力学评估。采用Sanger测序法检测线粒体12SrRNA m.C1494T和m.A1555G两个突变位点。结果 2例(1.7%)携带线粒体DNA m.A1555G均质性突变,1例(0.9%)携带线粒体DNA m.C1494T均质性突变。结论邢台地区线粒体DNA m.A1555G突变发生率与其他地区比较偏低,m.C1494T突变发生率与其他地区比较偏高。在地区性耳聋病因调查中运用基因诊断技术,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。
Objective To investigate the mitochondrial DNA m.C1494T and m.A1555G mutations in deaf school in Xingtai. Methods A total of 115 deaf students from deaf-mute school in Xingtai City of Hebei Province from 2013 to 2014 were investigated by questionnaire, physical examination and audiology. Sanger sequencing was used to detect mitochondrial 12SrRNA m.C1494T and m.A1555G two mutation sites. Results In 2 cases (1.7%), mitochondrial DNA m.A1555G was homogeneously mutated and in 1 case (0.9%) mitochondrial DNA m.C1494T was homozygous. Conclusion The incidence of mitochondrial DNA m.A1555G mutation in Xingtai region is relatively low compared with other regions. The incidence of m.C1494T mutation is relatively high in other regions. In the investigation of the cause of regional deafness gene diagnosis technology can be used for early diagnosis, genetic counseling and guidance of the family members to prevent drug-induced deafness.