中华耳科学杂志Issue(1)：50-53,4.DOI:10.3969/j.issn.1672-2922.2014.01.013
线粒体12SrRNAA1555G突变耳聋家系的异质率研究
Heteroplasmy Levels of Mitochondrial 12S rRNA A1555G Mutation in Pedigrees with Aminoglycoside-Induced and Non-Syndromic Hearing Loss as Detected Using SNaPshot Technique
摘要
Abstract
Objective To study heteroplasmy levels and inheritance patterns of the mitochondrial 12S rRNA A1555G mutation in a K-11 pedigree with aminoglycoside-induced and non-syndromic hearing loss using the SNaPshot technique. Methods Comprehensive history and physical examination were obtained, including history of aminoglycoside use and genetic factors related to the hearing impairment among the pedigree members. Age-appropriate audiological tests were performed and the PTA calculated. Genomic DNA was isolated from whole blood and the level of heteroplasmy in peripheral blood leuko-cytes was determined using SNaPshot technology. Results There were four generations in this K-11 pedigree. Deafness was the only clinical phenotype. The onset age and extent of hearing loss were different among maternal members. The average het-eroplasmy rate of this K-11 pedigree was 87.99%(ranging from 82.32%to 94.65%), and the average heteroplasmy rates of generations II to IV were 88.27%, 86.78%, and 90.31%, respectively. Conclusion There are random shifts in the heteroplasmy level between mothers and offspring with the A1555G mutation in K-11 pedigrees. However, there seems a trend of gradual increase over generations.关键词
耳聋/线粒体突变/异质率/SnaPshot技术Key words
Hearing loss/Mitochondrial DNA mutation/Heteroplasmy/SNaPshot technique分类
医药卫生引用本文复制引用
朱玉华,翟所强,戴朴..线粒体12SrRNAA1555G突变耳聋家系的异质率研究[J].中华耳科学杂志,2014,(1):50-53,4.基金项目
国家自然科学基金重点基金（81230020）国家科技支撑计划课题（2012BAI09B02）国家自然科学基金（No.81000414,81370021）和北京市科技新星计划（No.Z131107000413102）共同资助 （）
