中国人Leber遗传性视神经病家系线粒体DNA突变的研究

Mitochondrial DNA mutation in Leber's hereditaryoptic neuropathy in China

应用ＰＣＲ技术对１９个Ｌｅｂｅｒ病家系共１０２人进行了分析。结果表明这些家系的４５例患者中有３０例存在线粒体ＤＮＡ特异位点的点突变，其中２例存在杂合性，突变率为６６％。家系中的母系亲属５３名有２９人有突变，突变率为５５％。正常个体无一发生该位点的突变。

eber's hereditary optic neuropathy (LHON), atypical maternally inherited disease, is caused by a sin-gle nucleotide change of G to A at the site ofnucleotide 11 778 of mtDNA. We used PCR mathodto analysis mtDNA from 102 individuals of nineteenpedigrees. The results showed that 67% of the patients(30 / 45) and 55% (29 / 53) of the maternal relativeshave such a mutation, while no mutation exits in thefour normal individuals. The resutls show thatWallace's mutation is a main cause of LHON inChina.