一母系遗传非综合征型感音神经性耳聋线粒体基因突变分析  

Sequence analysis of mitochondrial DNA mutations in a maternally transmitted non-syndromic deafness family

作　　者：徐延军[1] 曹菊阳[1] 张昕[1] 申卫东[1] 冀飞[1] 翟所强[1] 袁慧军[1] 

机构地区：[1]解放军总医院耳鼻咽喉研究所,北京100853

出　　处：《军医进修学院学报》2006年第3期209-211,共3页Academic Journal of Pla Postgraduate Medical School

基　　金：国家"十五"科技攻关资助项目(2004BA720A18-02);解放军总医院院长基金资助项目(03YZJJ003)

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DNA(mitochondric DNA,mtDNA)12SrRNA及tRNASer(UCN)基因突变分析,mtDNA突变与遗传性耳聋相关性。方法:临床听力测试以明确诊断,收集非综合征型遗传性耳聋家系中6人的外周静脉血样本,从白细胞中提取DNA,聚合酶链反应扩增mtDNA目的片段,对扩增片段进行DNA测序,对发现的基因突变进行计算机辅助的二级结构模拟分析。结果:测序结果表明,此家系mtDNA12SrRNA基因中存在着mtDNA A1555G、G1007A、A1313G点突变,tRNASer(UCN)基因无突变。结论:在该非综合征型遗传性耳聋家系中,mtDNA12SrRNA基因区域A1555G和G1007A、A1313G突变可能共同参与了听力损害的过程。Objective：To investigate the association between mitochondrial DNA mutations and inherited deafness through sequence analysis of mitochondrial DNA 12SrRNA and tRNA^Ser（UCN） genes in a maternally transmitted non-syndromic deafness family. Methods：The diagnosis was validated by hearing test. Blood samples from the pedigree （6 members） were obtained. DNA was extracted from the leukocytes. The mitochondrial DNA target fragments were amplified by poly merase chain reaction（PCR）. The PCR products were analyzed by sequencing. Computerized 12SrRNA secondary structure modeling was carried up to identify mutants found in this study＇s contribution. Results：All samples examined carried mtDNA A1555G,G1007A, A1313G mutations in 12SrRNA gane. Computerized modeling shows that the 3 mutations made the 12SrRNA secondary structure totally different, and the energy changes a lot. Conclusions：The mtDNA A1555G,G1007A,A1313G mutations might relate to the pathogenesis of maternally transmitted non-svndromic deafness.

关 键 词：DNA 线粒体 DNA突变分析 听力丧失 感音神经性 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]