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目的 建立高分辨率熔解曲线(HRM)分析技术检测人甘露糖结合凝集素相关丝氨酸蛋白酶-2(-2)基因g.21370(G>T)位点单核苷酸多态性(SNP)的方法并进行评价.方法 通过测序获得基因g.21370(G>T)位点3种不同基因型对照品,并用其建立HRM技术检测-2基因点突变方法.利用60份待测DNA样品对建立的HRM方法的准确性、重复性及稳定性进行评价.结果 建立的-2基因HRM分析方法扩增反应正常,G/G、G/T、T/T 3种基因型区分明显,扩增产物Melt曲线良好,无非特异性产物出现;与基因序列测定结果对比显示准确性良好;对野生型和突变型标本3次重复检测结果显示,Tm值变异系数为0.017和0.023;χ2检验结果表明,本研究选取的随机体检人群-2基因g.21370(G>T)位点基因型频率分布符合Hardy-Weinberg遗传平衡.结论 建立的-2基因g.21370(G>T)位点HRM检测方法准确性高、重复性及稳定性良好,为下一步临床分析-2基因SNP提供一定的技术支持.“,”Objective To establish a method for detection of mannose-binding lectin associated serine protease-2 (MASP-2 ) mutations by high-resolution melting (HRM) analysis and to evaluate its effect. Methods Three different genotype reference substances of gene g.21370 (G>T) site were acquired by sequencing, and were used for establishment of HRM. Sixty DNA samples were used to evaluate the accuracy, repeatability and stability of this method. Results The amplification of gene analyzed by the HRM method was normal, three genotypes (G/G, G/T and T/T) were distinguished clearly, and the melting curves of the amplifi-cation products were good. The HRM analysis results were identical to the results of DNA sequencing. Repeated analyses showed that the coefficients of variance of Tm value were very small (0.017 and 0.023). χ2 test showed that the distribution of genotype frequency of gene g.21370 (G>T) site in the selected population was accorded with Hardy-Weinberg genetic equilibrium. Conclusions The HRM method has high accuracy, good repeatability and stability for detection of gene g.21370 (G>T) mutations, which provides certain technical support for the clinical analysis of gene SNP in the next step.