山西省部分地区Leber遗传性视神经病变11778G>A位点的检测分析

Detection and analysis of 11778G>A sites in Leber 's hereditary optic neuropathy in Shanxi province

目的探讨山西省Leber遗传性视神经病变11778G>A位点的突变携带情况及突变特点。方法针对91例疑似Leber遗传性视神经病变患者的11778G>A原发性位点设计引物,进行PCR扩增并测序,测序结果在Gen Bank上比对分析。结果 91例疑似Leber遗传性视神经病变患者中,确诊23例携带11778G>A位点的突变,占25.3%,其中仅有1例单独携带11778G>A,14例携带11778G>A+11719 G>A,其余均携带除11778G>A以外的突变。结论山西省Leber遗传性视神经病变患者中,11778G>A突变位点较高,这一特点对于临床实践具有重要的提示作用,大大提高了基因诊断的效率。

Objective： Mutant carrying cases and mutation features of 11778G〉A sites in Leber＇ s hereditary optic neuropathy were discussed in Shanxi province. Methods： Primers of the three primary sites （3460G〉 A, 14484T〉 C, 11778G〉 A） of 91 cases of suspected patients with Leber＇ s hereditary optic neuropathy were designed, then the three primary sites were amplified using PCR and sequenced, and the sequencing results were analyzed using comparative analysis in GenBank. Results： In 91 cases of suspected patients with Leber＇s hereditary optic neuropathy, 23 cases were diagnosed carrying 11778G〉 A mutation sites, accounting for 25.3%, only one case alone carrying 11778G〉 A, 14 cases carrying 11778G〉 A ＋ 11719 G〉 A and the rest cases carrying other mutations in addition to 11778G〉 A. Conclusions： In Leber＇ s hereditary optic neuropathy patients in Shanxi province, the 11778G〉 A mutation is the main sites in the primary sites, which is a very important tip for clinical practice, and greatly improve the efficiency of gene diagnosis.