检验医学与临床2016，Vol.13Issue(16)：2252-2255,4.DOI:10.3969/j.issn.1672-9455.2016.16.007
一个携带线粒体tRNAHis12192G＞A突变的耳聋家系研究
Analysis of mitochondrial tRNAHis12192G> A mutation in a pedigrees with non-syndromic hearing loss
摘要
Abstract
Objective To analyze the clinical ,genetic and molecular characteristics of a pedigrees with non-syndromic hearing loss(NSHL) ,carrying tRNAHis12192G > A mutation .Methods GJB2 ,GJB3 ,GJB6 gene encoding region and mitochondrial tRNA gene of 572 patients with NSHL and 521 healthy controls were amplified .A patient with tRNAHis12192G > A mutation underwent genetic analysis and pedigree assessment .Results A subject with tRNAHis12192G > A mutation were detected in the 572 cases with NSHL .Sequencing results revealed the pedigrees were without pathological mutations in GJB2 ,GJB3 and GJB6 gene encoding region .Seven of the 13 matrilineal relatives in this pedigree were with varying degrees of hearing loss .Conclusion tRNA-His12192G > A mutation might be the molecular basis of this pedigree ,and the different phenotypes among the pedigree members could due to nuclear modifier genes or environmental factors .关键词
非综合征型耳聋/线粒体DNA突变/tRNAHisKey words
non-syndromic hearing loss/mitochondria DNA mutations/tRNAHis引用本文复制引用
王辉,姚娟,范文露,唐霄雯,郑斌娇,吕建新,薛凌,管敏鑫..一个携带线粒体tRNAHis12192G＞A突变的耳聋家系研究[J].检验医学与临床,2016,13(16):2252-2255,4.基金项目
国家青年科学基金项目（31401070，31100903）；浙江省自然科学基金项目（Y2110399）；温州医科大学科研发展基金项目（Q TJ13017）。 （）
