目的探讨谷胱甘肽硫转移酶Pi（GSTPi）基因A313G、C341 T多态性在深圳地区汉族健康儿童和急性白血病（AL）儿童中的突变情况，并分析GSTPi基因多态性与儿童AL易感性的关系。方法采用逆转录聚合酶链式反应-变性梯度凝胶电泳（RT-PCR-DGGE ）结合DNA测序技术，对108例AL患儿和121名正常对照儿童进行基因多态性筛查。结果 GSTPi313G等位基因总样本频率为16.4％；未检测到GSTPi C341 T位点突变。GSTPi 313 G等位基因在AL组、急性淋巴细胞白血病（ALL）组、急性髓细胞白血病（AML）组和急性B淋巴细胞白血病（B-ALL）组中分布频率分别为18.1％、17.9％、20.0％和19.9％，均高于对照组的14.9％（P ＞0.05）。男性患儿 GSTPi 313AG基因型及AG＋GG显性模型可显著增加B-ALL发病风险（OR＝2.26，95％CI：1.07～6.42， P＝0.04；OR＝2.49，95％CI：1.07～5.81，P＝0.04）；女性患儿GSTPi 313GG基因型似可增加AML发病风险（OR＝2.33，95％CI：0.18～30.10），但差异无显著性（P＞0.05）。结论男性患儿GSTPi 313 AG基因型和AG＋GG显性模型可增加B-ALL发病风险。另外，GSTPi 多态性在降低女性AL患儿发病风险中的作用仍需做进一步探讨。%Objective ToinvestigatetheA313GandC341TpolymorphismsofGlutathione S-Transferase pi (GSTPi ) gene in ShenZhen Han children with acute leukemia,and evaluate the associationbetweenGSTP1geneticpolymorphismsandtheriskofAL.Methods All108patientswith AL and 1 21 control children were analyzed by reverse transcriptase-polymerase chain reaction-denaturing gradientgelelectrophoresis(RT-PCR-DGGE)andsequencing.Results TheGallelefrequencyof A31 3G polymorphism in 229 cases was 1 6.4%,and C341 T polymorphism was not found in our study. The G allele frequencies of A31 3G polymorphism in AL,ALL,AML and B-ALL groups were 1 8.1%、1 7.9%、20.0% and 1 9.9% which higher than that of 1 4.9% in control group (P>0.05 ).GSTP1 31 3 AG genotype and the AG+GG dominance model significantly increased the risk of B-ALL in boys (OR=2.26,95%CI:1 .07 ~6.42,P=0.04;OR =2.49,95%CI:1 .07 ~5.81 ,P =0.04). However,in girls 31 3GG genotype was linked with an increased risk of AML (OR=2.33,95%CI:0.1 8~30.10),but there was no significantly difference (P>0.05).Conclusions GSTP1 313AG genotype and the AG+GG dominance model could increase the susceptibility of B-ALL in boys.While the role of GSTP1 genetic polymorphisms in reducing the risk of AL in girls remains to be further studied.
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