摘要
目的通过对一个母系遗传非综合征型耳聋家系进行线粒体DNA12SrRNA及COI/tRNASer(UCN)基因突变分析,研究线粒体DNA突变与遗传性耳聋的相关性。方法收集母系遗传耳聋家系12人的临床资料和外周静脉血标本,纯音听力测试明确感音神经性耳聋诊断,从白细胞中提取DNA,聚合酶链反应扩增线粒体DNA目的片段,对扩增片段进行DNA直接测序。结果测序结果表明,此家系线粒体DNA12SrRNA基因中存在着A1555G突变,COI/tRNASer(UCN)基因中存在着G7444A突变。结论在该非综合征型遗传性耳聋家系中,线粒体DNAA1555G和G7444A突变可能共同参与了听力损害的过程。
Objective To identify the mutations in mitochondrial DNA 12SrRNA and COI/tRNAs^Ser（UCN） genes in a maternally transmitted non-syndromic deafness family. Methods The diagnosis was validated by hearing test.Blood samples from the 12 members of the family were obtained.DNA was extracted from the leukoeytes. The mitochondrial DNA target fragments were amplified by poly merase chain reaction （PCR）.The mutations were detected by direct DNA sequencing. Results All samples examined carried mtDNA A1555G mutation in 12SrRNA gene and G7444A mutation in COI/tRNA^Ser（UCN） gene. Conclusions Double mutations of A1555G and G7444A may play a pivotal role in the pathogenesis of hearing loss in this family with non-syndromic inherited hearing impairment.
出处
《中华耳科学杂志》
CSCD
2005年第4期263-266,共4页
Chinese Journal of Otology
基金
解放军总医院"院长基金"资助
批准号:03YZJJ003
关键词
感音神经性耳聋
线粒体
基因
突变
Sensorineural heating loss
Mitochondria DNA
Mutation
Gene
