%0 Journal Article
%T Analysis of Mitochondrial Gene Mutations in Pedigrees of Leber''''s Hereditary Optic Neuropathy<br>Leber遗传性视神经病变家系的线粒体基因突变分析 Analysis of Mitochondrial Gene Mutations in Pedigrees of Leber′s Hereditary Optic Neuropathy
%A Ling Lin
%A Yi-Kai Chen
%A Yi Tong
%A Zhi-Hong Zheng
%A Jian-Yin Lin
%A Jin-Wei Zhu
%A <br>林玲
%A 陈贻锴
%A 童绎
%A 郑志竑
%A 林建银
%A 朱进伟LIN Ling
%A CHEN Yi-Kai
%A TONG Yi
%A ZHENG Zhi-Hong
%A LIN Jian-Yin
%A ZHU Jin-Wei
%J 遗传
%D 2003
%I 
%X The purpose of the study is to investigate the frequency of common pathogenic primary mitochondrial DNA mutations in pedigrees of Leber's hereditary optic neuropathy (LHON).Mutations were determined by polymerase chain reaction (PCR), single-stranded conformational polymorphism (SSCP) and DNA sequencing. Twenty-two patients with suspicion of LHON and twenty-one their maternal relatives underwent molecular genetic evaluation. Seventy-one normal individuals underwent molecular genetic evaluation as control at the same time. Members from 13 families with suspicion of LHON,11 families had nucleotide position nt11778 G-->A mutations. Another 2 families had nt14484 T-->C mutations.It is concluded that the point mutations at nucleotides 11778 and 14484 are primary LHON mutations,but the point mutation of nt14484 is rare in Chinese.
%K PCR-SSCP<br>Leber遗传性视神经病
%K 线粒体基因
%K 突变
%K 线粒体DNA
%K PCR-SSCP
%K 遗传性疾病
%U http://www.alljournals.cn/get_abstract_url.aspx?pcid=90BA3D13E7F3BC869AC96FB3DA594E3FE34FBF7B8BC0E591&jid=3E23F50E071DF18E21B2F5AEE4F1FA5E&aid=5DFA0B5001215027&yid=D43C4A19B2EE3C0A&vid=C5154311167311FE&iid=38B194292C032A66&sid=866F8A6B640835A7&eid=B7BFA4B351E4C682&journal_id=0253-9772&journal_name=遗传&referenced_num=5&reference_num=10