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目的研究脱氧胞苷激酶(DCK)的单核苷酸多态性(SNP)及其对阿糖胞苷(Ara-C)治疗急性髓系白血病(AML)疗效的影响。方法采用高温连接酶检测反应技术,检测126例接受Ara-C治疗的AML患者(AML组)和100名健康人(正常对照组)DCK基因7个SNP位点(SNP1~7)的基因型和等位基因分布频率,比较DCK不同基因型分布AML组患者的Ara-C治疗效果。结果 DCK基因SNP1(rs2306744)等位基因和SNP2(rs12648166)基因型分布频率,在正常对照组与AML组和Ara-C治疗无效组(n=35)之间比较,差异均有统计学意义(P<0.05)。在AML组,SNP1的CC型基因型和SNP2的多态性基因型(AG+GG型)以及SNP3(rs4694362)的野生型基因型,对Ara-C治疗表现出较好的临床反应。结论 DCK基因的SNP能作为潜在的Ara-C治疗AML患者预后的分子标志之一。
Objective To study the single nucleotide polymorphism (SNP) of deoxycytidine kinase (DCK) and its effect on the efficacy of Ara-C in the treatment of acute myeloid leukemia (AML). Methods The genotypes of 7 SNP loci (SNPs 1-7) of DCK gene in 126 AML patients (AML group) and 100 healthy people (normal control group) were detected by high temperature ligase detection reaction technique. Allele distribution frequency, DCK different genotype distribution AML patients Ara-C treatment effect. Results The distribution frequencies of SNP1 (rs2306744) allele and SNP2 (rs12648166) genotype in DCK gene were significantly different between the normal control group and the AML group and the Ara-C treatment-ineffective group (n = 35) P <0.05). In AML group, CC genotype of SNP1 and SNP2 genotype (AG + GG) and SNP3 (rs4694362) wild type genotypes showed good clinical response to Ara-C treatment. Conclusions The SNP of DCK gene can be used as one of the molecular markers for the prognosis of Ara-C-treated AML patients.