[中国Leber遗传性视神经病变中的线粒体DNA突变]
[Mitochondrial DNA mutation in Leber's hereditary optic neuropathy in China].
作者信息
Zhang L S, Huang Y, Li F Y
机构信息
Nanjing Railway Medical College.
出版信息
Zhonghua Yi Xue Za Zhi. 1994 Jun;74(6):349-51, 390.
Leber's hereditary optic neuropathy (LHON), a typical maternally inherited disease, is caused by a single nucleotide change of G to A at the site of nucleotide 11,788 of mtDNA. We used PCR method to analysis mtDNA from 102 individuals of nineteen pedigrees. The results showed that 67% of the patients (30/45) and 55% (29/53) of the maternal relatives have such a mutation, while no mutation exists in the four normal individuals. The results show that Wallace's mutation is a main cause of LHON in China.
Leber遗传性视神经病变（LHON）是一种典型的母系遗传疾病，由线粒体DNA（mtDNA）第11788位核苷酸处的G到A的单核苷酸变化引起。我们采用聚合酶链反应（PCR）方法对19个家系的102名个体的mtDNA进行分析。结果显示，67%的患者（30/45）和55%的母系亲属（29/53）存在这种突变，而4名正常个体中未发现突变。结果表明，Wallace突变是中国LHON的主要病因。
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