中华耳科学杂志Issue(3)：435-439,5.DOI:10.3969/j.issn.1672-2922.2013.03.022
线粒体DNA 1555A>G异质性突变大家系的临床与实验分析
A Large Family With mtDNA 1555A>G Heteroplasmic Mutation
摘要
Abstract
Objective To study the relationship between mutation load and severity of hearing loss and to further ana-lyze the heteroplasmic mtDNA transmission in a large pedigree with heteroplasmy for 1555A>G. Methods Heteroplasmy was tested and quantified using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), direct sequencing and Denaturing High Performance Liquid Chromatography (DHPLC). Correlation was analyzed together with clinical data. Results The clinical phenotype varied from normal to severe or profound deafness. Six heteroplasmic sub-jects, ten homoplasmic subjects and two wild-type subjects were detected by PCR-RFLP and sequencing. The results of DHPLC revealed that the proportion of mutation load ranged from 11.9%to 97.9%, and four subjects who were considered as homoplasmic or wild-type subjects in previous testing were additionally identified as heteroplasmy. Conclusion There is a strong correlation between the mutation load and severity of hearing loss/sensitivity to aminoglycosides (r=0.758, P<0.001). In addition, the mutation level of offspring is associated with their mothers’in this pedigree, which indicates that there may exist a pattern in the process of heteroplasmic transmission.关键词
线粒体DNA 1555A>G突变/异质性/耳聋/临床表型/变性高效液相色谱(DHPLC)Key words
mtDNA 1555A>G mutation/heteroplasmy/hearing loss/clinical phenotype/DHPLC分类
医药卫生引用本文复制引用
沈姗姗,王琳凯,刘畅,徐志勇,胡玉华,高国凤,王沙燕..线粒体DNA 1555A>G异质性突变大家系的临床与实验分析[J].中华耳科学杂志,2013,(3):435-439,5.基金项目
2009年广东省科技计划项目，编号2009B030801233；本研究受深圳市生物产业发展专项资金2013年第四批扶持计划支持，项目名称“新型遗传性耳聋基因检测试剂盒研发” （）
