【摘要】 目的对非综合征型耳聋患者及其家属进行线粒体基因A1555G与C1494T突变分析,以明确聋病先证者分子病因。方法收集非综合征耳聋患者及其家属共95例受检者的外周血样本,常规方法提取基因组DNA,进行荧光定量PCR检测。同时对所提取的基因组DNA采用传统的毛细管电泳测序分析,并与NCBI GenBank数据库人线粒体基因序列进行比对,从而确诊是否为线粒体基因突变。结果两种检测方法均表明,非综合征耳聋患者及其家属中共检出线粒体基因A1555G突变4例,占聋病先证者7.41%(4/54),未检测到线粒体基因C1494T突变,4例阳性患者双耳均有不同程度的损伤,且均为女性。结论采用荧光定量PCR法检测线粒体基因A1555G与C1494T突变,方便、快捷、准确,能辅助临床快速的分析诊断药源性耳聋的分子病因。更多还原

【Abstract】 Objective To analyze the mitochondrial gene mutation A1555G and C1494T in patients of nonsyndromic hearing loss(NSHI) and their family members, identify the molecular etiopathogenisis of the propositus. Methods Peripheral blood samples were obtained from 95 cases self-doubt hearing loss of patients collected by out-patient clinic. Their genomic DNA was extracted from peripheral blood by extraction kits to undergo polymerase chain reaction, florescent quantitative PCR and traditional capillary electrophoresis sequencing, then compared with GenBank data mitochondrial gene sequences, so as to detect the mutations of mitochondrial gene. Results Two testing methods showed that 4 patients were found out mitochondrial gene A1555G mutation among 54 propositus(7.41%). None was detected in mitochondrial gene C1494T mutation. 4 positive patients were female, and both of their ears were damaged to varying degrees. Conclusion Florescent quantitative PCR is one of a convenient, quick and accurate method to detect the mutations of C1494T and A1555G in mitochondrial gene, which can help to diagnose the molecular etiopathogenisis of drug-induced hearing loss.更多还原