摘要
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 major types and clinical manifestations of mitochondrial DNA (mtDNA)mutations in Chinese patients with Leber′s hereditary optic neuropathy(LHON). Methods A total of 119 patients with bilateral optic neuropathy from 117 pedigrees, including 37 with determinate diagnosis of LHON(group A) and 82 with suspected LHON(group B),were tested for mtDNA mutations by using single-strand conformational polymorphism, mutation-specific primer polymerase chain reaction and sequencing. Pertinent clinical data and history of the patients with the 11778 mutation were collected. Results Nucleotide positions(np)11778 mutation and np 14484 mutation was found in 33 (89.2%) and 3 (8.1%) patients respectively in group A, while np 11778 mutation was obtained in 26 (31.7%)in group B. No 3460 mutation was found in group A or B. The clinical manifestations of 59 patients with np 11778 mutation were as follows: acute or chronic visual loss,no ophthalmalgia, the age of onset of 10-25, and either a central or paracentral scotoma in perimetry. The visual recovery rate was 8.6%～11.6%. Conclusion Chinese patients with LHON have a very high incidence of np 11778 mutation and the clinical manifestations of the patients with np 11778 mutation are similar to those of Caucasian patients.
出处
《中华眼底病杂志》
CAS
CSCD
2004年第2期78-80,共3页
Chinese Journal of Ocular Fundus Diseases
