摘要
目的 了解原因不明的视神经炎 (optic neuritis of unknown reason,ONUR)患者线粒体 DNA(mt- DNA)突变情况 ,探讨 mt- DNA突变检测在 ONU R诊断和鉴别诊断中的应用价值。 方法 运用单链构像多态分析、突变特异性引物多聚酶链反应以及序列分析法等检测 30例 ONUR患者 mt- DNA突变情况。 结果 30例患者中 mt- DNA 11778突变者 12例 ,占 40 %。mt- DNA 34 6 0和 15 2 5 7在所有受试者中均为阴性。 结论 相当一部分 ONUR是 mt- DNA突变所致 ;mt- DNA突变检测对 ONUR的诊断和鉴别诊断有重要意义。
Purpose [WT5”BZ]To investigate mitochondrial DNA (mt DNA) mutations in optic neuritis of unknow reason (ONUR) and to assess the pathogenic and differential diagnostic values of screening for mt DNA mutations in ONUR. [WT5”HZ]Method Thirty patients with ONUR were screened for mt DNA mutations by using SSCP,mutation specific primer PCR and sequencing. Results mt DNA mutations were found in 12 out of the thirty patients.All of the mutations were at 11778 position,but no one at 3460 and 15257. Conclusions Quite a number of patients (12/30,40%) with ONUR were caused actually by mt DNA mutation.Screening for mt DNA mutation in these patients has a pathogenic and differential diagnostic significance. [WT5”HZ]
出处
《中华眼底病杂志》
CAS
CSCD
北大核心
2000年第2期78-79,共2页
Chinese Journal of Ocular Fundus Diseases
基金
国家863计划部分资助!项目 (Z1 9- 0 1 - 0 4 - 0 2 )
关键词
视神经炎
DNA
线粒体
突变分析
Optic neuritis
DNA,mitochondrial
DNA, mutational analysis
