论文部分内容阅读
目的 探讨国人 L eber遗传性视神经病变 (L HON)患者线粒体 DNA(mt DNA)突变的主要类型和临床特征。 方法 对来自 117个家系的 119例双眼视神经疾病患者分 2组进行基因检测 ,A组 37例为临床确诊 L HON患者 ,B组 82例属可疑 L HON患者。 2组均采用单链构像多态分析 ,采用突变特异性引物多聚酶链反应确定 11778位点 ,采用序列分析法确定 346 0及 14 4 84位点。对检测结果为 11778位点突变的 L HON患者 ,收集其病史和临床资料。 结果 A组中 11778位点突变和 14 4 84位点突变者分别为 33例(89.2 %)和 3例 (8.1%) ,B组中仅有 2 6例 (31.7%) 11778位点突变者。 2组均未检测到 346 0位点突变者 ;所有 11778位点突变者均有特征性临床表现 :中心视力急性或缓慢下降 ,不伴眼球疼痛 ,多在 10～ 2 5岁发病 ,视野检查结果显示中心或旁中心暗点等 ,视力恢复率为 8.6 %～ 11.6 %。 结论 我国 L HON患者中11778位点突变率高 ,临床特征与白种人 11778位点突变 L HON患者相似。
Objective To investigate the main types and clinical features of mitochondrial DNA (mt DNA) mutations in Chinese L eber’s hereditary optic neuropathy (L HON). Methods 119 patients with binocular optic neuropathy from 117 pedigrees were genotyped in two groups, 37 patients in group A were clinically diagnosed as L HON and 82 patients in group B as suspicious L HON. Single-strand conformation polymorphism analysis was used in both groups. 11778 sites were determined by polymerase chain reaction with mutation-specific primers, and 346 0 and 14 4 84 sites were identified by sequence analysis. The detection results of 11778 point mutations in L HON patients, collect their history and clinical data. Results There were 33 (89.2%) and 3 (8.1%) of 11778 mutations and 14 4 84 mutations in group A, and only 26 (31.7%) 11778 mutations in group B. No mutation of 346 sites was detected in the two groups. All 11778 mutations showed characteristic clinical manifestations: central or acute visual acuity decreased slowly, without eye pain, mostly in 10 ~ 25 years old, visual field test results Display center or next to the center dark spots, visual acuity recovery rate of 8.6% to 11.6%. Conclusion The mutation rate of 11778 in L HON patients in our country is high, and its clinical features are similar to those of LITON patients with mutations of 11778 loci.