胞苷脱氨酶基因多态性对阿糖胞苷效果的影响

Influence of Effect of Ara-C with Polymorphism of Cytidine Deaminase

目的:探讨急性白血病病人胞苷脱氨酶基因多态分布及不同基因型患者的疗效与转归。方法:采用PCR扩增目的片段并直接测序来了解CDA基因G208A位点基因多态。结果:CDA基因第1号外显子存在G208A多态,有GG、GA和AA3种基因型,其G等位基因频率为95.14%,而A等位基因频率为4.86%,同时发现未缓解比率在GG、GA和AA两组之间无统计学差异(=0.96,P>0.05),但其复发率在两组之间存在差异(=5.04,P<0.05),GG基因型的患者复发率较低。结论:CDA基因第1号外显子在其研究人群中存在G208A多变,其不同的基因型对患者预后存在影响。

Objective To discuss the polymorphism of cytidine deaminase （CDA） from patients with acute leukemia and the patients＇curative effect. Methods The polymemse chain reaction （PCR） and sequencing technologies were used for detection of CDA. Results The results showed that there was a G208A polymorphism in the first extron of CDA which have GG, GA and AA type. The allelic frequencies of G and A were 95.14% and 4.86% respectively. The efficiency rate was same between GG group and GA and AA group （x^2 =0.96, P 〉 0.05）. But the recrudescence rate was different between the two groups, the GG group had lower recrudescence rate than the other. Conclusion There was the polymorphism of G208A in first extron of CDA, the different genetype had differential influence to the prognosis of patients.