高分辨率熔解曲线分析法检测胶质瘤中异柠檬酸脱氢酶1基因突变

Application of high resolution melting analysis in detecting IDH1 mutation in glionm patients

目的采用高分辨率溶解曲线分析法检测胶质瘤中异柠檬酸脱氢酶1（IDH1）基因突变，探讨其应用于临床检测的可行性。方法首先采用高分辨率溶解曲线分析法检测9例胶质瘤患者中IDH1基因的突变情况，并以直接测序法对结果进行验证。结果通过高分辨率熔解曲线分析法，确认9例胶质瘤患者中有6例发生了IDH1突变，其中5例为R132H（CGT〉CAT），1例为R132C（CGT〉TGT），其余检测均为野生型。经直接测序对以上9例标本进行验证，证实所有患者的突变情况与高分辨率熔解曲线分析法的结果一致。结论应用高分辨率熔解曲线分析法检测临床样本IDH1突变与直接测序法比较具有操作简便、快速、结果准确的优点，适合在临床开展。

Objective To evaluate the feasibility of detecting the mutation of IDH1 in glioma patients by high resolution melting（HRM） curve analysis. Methods The gene mutation of IDH1 was detected by HRM method in 9 surgical resection paraffin specimens of glioma, and the result was verified by gene sequencing. Results 6 cases of R132H（ CGT 〉 CAT） mutation and 1 case of R132C （ CGT 〉 TGT） mutation were found by HRM method. The resluts of direct gene sequencing were consistent with HRM method. Conclusion The HRM method in detecting IDH1 mutation is more efficient and convenient than direct sequencing. Moreover, it has advantages of low-cost and suitable for clinical test.