LHON患者携带新的线粒体多态位点

A new polymorphism locus of mitochondrial DNA in patients with Leber’s hereditary optic neuropathy

摘要: 目的: 寻找此Leber遗传性视神经病变(leber′s hereditary optic neuropathy,LHON)家系的致病突变位点。方法: 采集静脉血,提取全基因组DNA,聚合酶链反应(PCR)扩增目的片段,酶切和直接测序反应寻找碱基改变位点。结果: 患者mtDNA序列存在G11778A突变,发现4个多态性位点,其中G14476A为未报道的多态位点,该位点未引起编码蛋白质的改变,属无义突变。该多态位点在100例正常人中所占比例为3%。结论: 该家系以G11778A为致病突变,G14476A为新的线粒体多态位点。

Abstract: Objective: To find the mitochondrial DNA mutation in patients with familial Leber’s hereditary optic neuropathy（LHON）. Methods: Genomic DNA was extracted from patients with familial LHON.Polymerase chain reaction（PCR） was performed to screen for mitochondrial DNA mutations.Direct sequencing and restriction endonucleases were used to find the mitochondrial DNA mutation. Results: G11778 A mutation and 4 kinds of mitochondrial DNA polymorphism were detected in LHON patients.G14476A is a newly-found locus. Conclusion: G11778A can cause mitochondrial DNA mutation in patients with LHON.G14476A is a new polymorphism locus of mitochondrial DNA.