高分辨熔解曲线技术快速检测Leber遗传性视神经病变11778致病突变位点

Rapid detection ofthe 11778 mutation of Leber′s hereditary optic neuropathy by high resolution melting

目的探索一种简洁、快速、准确的临床基因检测Leber's遗传性视神经病变(LHON)mt 11778致病突变位点新方法。方法采用高分辨熔解曲线技术(HRM)及测序,对山西不明原因引起视力下降的患者31例及其患者母系家属19例进行mt11778位点分析。结果 31患者HRM分析存在4种不同的波形图,测序结果与之相符。20%患者存在mt 11778 G→A,10%患者存在mt 11794 T→C、mt 11779 C→T,100%患者存在mt 11719 G→A多态位点。突变的患者家属分析结果符合母系遗传规律。结论 HRM技术能快速准确地将一个碱基的差异区分开,未来在临床基因检测中有更广泛的应用前景。

Objectives ： In order to explore a easy, rapid and accurate method for clinical, which detect the 11778 mutation of leber＇s hereditary optic neuropathy. Methods： Using high resolution melting （HRM） and sequencing, the mt11778 sites were detected in 31 cases of patients and 19 cases of their maternal family members which was unknown reason caused by. Results： Of 31 patients, four different waveforms were detected by HRM, which were consistent with those of DNA sequencing. 20% of patients with mt 11 778 G A, 10% in patients with mt 11 794 T - C, mt 11 779 C T, 100% of the patients with the polymorphic loci ： mt 11 719 G -A. Family members of patients mutation analysis was consistent with Female genetic pattern. Conclusion： HRM technology can distinguish the differences of a base quickly and accurately, so it has a widerly foreground in clinical genetic testing in the future.