Leber遗传性视神经病三种组织间mtDNA基因型差异性的研究  

STUDY OF mtDNA GENOTYPE AMONG THREE KINDS OF TISSUE IN LEBER HEREDITARY OPTIC NEUROPATHY

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

机构地区：[1]南京铁道医学院,福建医学院,徐州医学院生物学教研室

出　　处：《中华医学遗传学杂志》1994年第2期85-88,T005,共4页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金

摘　　要：采用ＰＣＲ技术对我国两个Ｌｅｂｅｒ遗传性视神经病（ＬＨＯＮ）家系成员外周血、头发和口腔粘膜３种组织线粒体ＤＮＡ进行扩增，限制性酶切分析、以探讨组织间ｍｔＤＮＡ基因型是否存在差异。结果发现一例患者ｍｔＤＮＡ基因型杂合，并且３种组织间突变型ｍｔＤＮＡ所占比例不同，证明线粒体ＤＮＡ组织间存在差异性。The mitochondrial DNA(mtDNA)of peripherial blood,hair and buccal mucosa isolated from mem bers of two Chinese pedigrees with Leber hereditary optic neuropathy was amplified by PCR.After digestion of PCR products by SfaNI,we compared the mtDNA genotypes of these three tissues in order to investigate the segregation rule of mtDNA.Heteroplasmic mtDNA was observed in one patient,and dif ferent percentages of mutant mtDNA among the three tissues were noted as well.This result demon strated the mtDNA genotype difference among tissues and supported the view that heteroplasmic mtDNA populations may segregate during mitosis.

关 键 词：线粒体 DNA 视神经疾病 

分 类 号：R774.6[医药卫生—眼科]