中国人mtDNA14484位点突变与Leber's视神经遗传性疾病

Relationship between Leber hereditary optic neuropathy and 14484 mutation in mtDNA in Chinese

目的 探讨 mt DNA1 4 4 84位点突变与中国人 Leber's视神经遗传性疾病的关系。方法 从 4例 LHON先证者及其母系亲属 8例和正常对照 8例外周血白细胞中提取 DNA,对从线粒体基因组中获得的 PCR产物进行 Sau3AI限制性内切酶酶切分析 ,并进行单链构象分析。结果 4例 LHON先证者均失去了 Sau3AI限制性内切酶酶切位点 ,在聚丙烯酰胺凝胶电泳中 ,PCR产物的迁移率增加。结论 中国人群中存在 1 4 4 84突变位点的 LHON家系。

Objective To explore the relationship between Leber hereditary optic neuropathy (LHON) and the 14484 mutation in human mitochondrion DNA (mtDNA) in Chinese. Methods DNA was abstracted from WBC from 4 LHON patients and their 8 matrilineal kinfolks and 8 normal people as control. The segments of PCR obtained from mitochondrion genome were digested by Sau3AI restriction endonuclease and analyzed by SSCP. Results Sau3AI could not cleave the segments of PCR from the 4 patients and their migratory, and the migrant rate of PCR produce increased in the polyacrylamidedel electrophoresis (PAGE), while the normal control and the kinfolks of LHON were not change. Conclusions There are LHON genealogies of 14484 mutation in Chinese.