%0 Journal Article
%T 一个母系遗传非综合征耳聋大家系mtDNA序列分析 Mitochondrial DNA Sequence Analysis of an Extensive Matrilineal Nonsyndromic Deafness Pedigree
%A 牟奕
%A 单祥年
%A 严明
%A 刘宁生
%A 鲁晓萱
%A 邢光前
%A 卜行宽
%A 杨焕明MOU Yi
%A SHAN Xiang-nian
%A YAN Ming
%A LIU Ning-sheng
%A LU Xiao-xuan
%A XING Guang-qian
%A PU Xing-kuan
%A YANG Huan-ming
%J 遗传
%D 2001
%I 
%X 通过分析本家系mtDNA序列,探讨淮阴一非综合征耳聋大家系患病的分子遗传学机制.采用聚合酶链反应(PCR)扩增mtDNA与非综合征耳聋相关位点nt1555、nt7445的区域和人类种群研究的D-loop区、PCR-异源双链分析、PCR-RFLP、PCR产物克隆序列测定等技术对该家系进行了系统的研究.发现该家系中全部母系亲属有mtDNAA1555G突变,而家系中非母系个体、对照组(100例正常个体)的mtDNA1555位点均为A.该家系mtDNA7445位点无突变;该家系属于II型线粒体;发现家系D-loop区存在未见报道的碱基插入.提示mtDNAA1555G位点突变可能是导致该家系患者致聋的主要因素之一.遗传背景可能对家系疾病的表型存在一定程度的影响。 Abstract:We find an extensive nonsyndromic sensorineural deafness family in Huaiyin,and investigate the possible molecular genetic mechanism of matrilineal nonsyndromic sensorineural deafness.We use PCR,combined with PCR-heteroduplex analysis,PCR-RFLP and sequencing techniques to examine part of 12S rRNA,tRNAser(UCN),and D-loop region of this pedigree.1)We found an A to G transition at position 1555(A1555G) of the mitochondrial 12S rRNA from all the patients and four matrilineal.2)An new nucleotide insertion was indentified in D-Loop region.3)According to the polymorphism of D-loop,this pedigree belong to mitochondrial type II.The study showed that the A1555G m
%K 母系遗传非综合征耳聋
%K 线粒体DNA
%K 点突变
%K 序列分析
%K Key
%K words
%K matrilineal
%K nonsyndromic
%K sensorineural
%K deafness
%U http://www.alljournals.cn/get_abstract_url.aspx?pcid=90BA3D13E7F3BC869AC96FB3DA594E3FE34FBF7B8BC0E591&jid=3E23F50E071DF18E21B2F5AEE4F1FA5E&aid=95AA9CFCCE13DD284CDF4876132312C5&yid=14E7EF987E4155E6&vid=EA389574707BDED3&iid=94C357A881DFC066&sid=238BD7580EFCC5AE&eid=94655B9881133A28&journal_id=0253-9772&journal_name=遗传&referenced_num=0&reference_num=0