核DNA对Leber遗传性视神经病的影响  

The effect of nuclear DNA on Leber's hereditary optic neuropathy

作　　者：朱斌[1] 张丽珊[2] 黄鹰[2] 童绎[3] 高静娟[3] 

机构地区：[1]徐州医学院,221002 [2]南京铁道医学院,210009 [3]福建医学院,310005

出　　处：《中国优生与遗传杂志》1997年第6期15-16,18,共3页Chinese Journal of Birth Health & Heredity

基　　金：国家自然科学基金

摘　　要：对一个同卵双生leber病家系成员mtDNA突变状况作基因分析，并比较同卵双生子及其同胞间症状差异。发现该家系母系成员mtDNA相同皆为突变纯合型，同卵双生子间症状相似，但与他们同胞间差异极大，这种差异是由核DNA不同所致，表明核DNA在该病形成过程中影响极大。The mtDNAs from members of a monozygotic twin pedigree with leber's hereditary optic neu ropathy (LHON) have been analysed in gene and the difference of symptom between the monozygot ic twin and their sisters was compaired as well.The results showed that the mtDNA genotypes of maternal menbers were all pure mutant and the symptom of monozygotic twin was similar but dif ferent from their sisters. This diffrence was coused by nuclear DNA, so nuclear DNA might affect the formation of this disease deeply.

关 键 词：视神经疾病 线粒体DNA 基因突变 遗传性 

分 类 号：R774.6[医药卫生—眼科]