线粒体DNA突变与Leber’s遗传性视神经病  

MITOCHONDRIAL DNA MUTATION ASSOCIATED WITH LEBER'S HEREDITARY OPTIC NEUROPATHY IN CHINA

作　　者：张丽珊[1] 黄鹰[1] 王世浚[1] 李方园[1] 朱斌[1] 张志平[1] 高静娟[2] 童绎[2] 

机构地区：[1]南京铁道医学院生物学教研室 [2]福建医学院眼科教研室

出　　处：《中华医学遗传学杂志》1992年第5期259-262,T017,共5页Chinese Journal of Medical Genetics

基　　金：国家自然科学基因

摘　　要：应用多聚酶链式反应(PCR)技术对线粒体DNA突变引起的Leber's遗传性视神经病进行了研究。通过对来自不同家系的12名Leber's病患者和8个Leber's病家系成员mt DNA的分析,结果表明12名患者中的9人和3个家系中的全部患者都存在mt DNA特异性位点的突变,这种突变使SfaNI酶丧失识别位点,因此可通过酶切多态性来直接进行Leber's病的诊断。扩增了含SfaNI酶切识别位点在内的一段340 bp的mt DNA,SfaNI酶将正常人的这段mt DNA切成190 bp和150 bp两片段,患者的这段mt DNA则保持完整的340bp。The mitochondrial DNA (mtDNA) of thirteen patients with Leber's hereditary optic neuropathy from different families and the members of three pedigrees with Leber's disease were analysed with PCR. The results showed that the specific mt DNA mutation made the recognition sequence of SfaN Ⅰ change and resulted in only one band of 340 bp in nine of twelve patients from different families and in all patients from the three pedigrees, but it resulted in two bands of 190 bp and 15(?) bp in healthy persons. So PCR method could be used in the diagnosis is of Leber's disease for its advantage of rapidity and simplicity.

关 键 词：DNA 视神经疾病 聚合酶链反应 

分 类 号：R774.602[医药卫生—眼科]