Leber病及病因不明的视神经疾病基因检测结果分析

Results and analysis for genetic detecting in Leber's disease and optic neuropathy of unknown reason

目的 了解 L eber遗传性视神经病变 (简称 L eber病 )及病因不明的视神经疾病基因检测结果 ,探讨该项检查的临床意义。方法 4 0例视神经疾病患者分临床确诊 L eber病组 (A组 )和病因不明视神经疾病组 (B组 ) ,采用双重检测法 ,分别检测每例外周静脉血中线粒体 DNA(mt DNA)突变情况 ,并比较、分析检测结果。结果 A组 12例中 ,11778突变者 11例 ,占 92 % ;B组 2 8例中 ,11778突变者 7例 ,占 2 5 % .未发现 1例有 m t DNA346 0、15 2 5 7或 14 4 84突变的。结论 基因检测可迅速确诊 L eber病 ,并评价预后 ,应列为L

Objective To investigate the results from genetic detecting in Leber's hereditary optic neuropathy (Leber's disease) and optic neuropathy of unknown reason, and to assess the clinical values of this detection. Methods Patients of 40 cases were divided into two groups which were Leber's disease group (group A) and optic neuropathy of unknown reason group (group B). Each case of the forty patients was detected for mtDNA mutations by using dual method, and these results were compared and analysed. Results mtDNA mutations at position 11778 were found in 11 out of the 12 patients from group A and 7 cases of the 28 patients from B, but no one at mtDNA 3460, 15257 or 14484.Conclusion Genetic detecting may be helpful in suggesting the diagnosis and valuing prognosis of Leber's disease.