儿童急性白血病易感性与GSTPi基因多态性关系的研究  

Association between polymorphisms of glutathione S-Transferase pi( GSTP1 ) gene and susceptibility of children with acute leukemia

作　　者：任艳飞[1] 岳丽杰[1] 谢偲[1] 丁慧[1] 邹泽巧 刘畅[1] 

机构地区：[1]遵义医学院附属深圳市儿童医院儿科研究所,深圳市518026

出　　处：《中国小儿血液与肿瘤杂志》2014年第6期287-291,297,共6页Journal of China Pediatric Blood and Cancer

基　　金：国家自然科学基金(30471830);深圳市科技计划项目(201101011)

摘　　要：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 To investigate the A313G and C341T polymorphisms of Glutathione S-Transferase pi （GSTPi） gene in ShenZhen Han children with acute leukemia, and evaluate the association between GSTP1 genetic polymorphisms and the risk of AL. Methods All 108 patients with AL and 121 control children were analyzed by reverse transeriptase-polymerase chain reaction-denaturing gradient gel electrophoresis （RT-PCR-DGGE） and sequencing. Results The G allele frequency of A313G polymorphism in 229 cases was 16.4% , and C341T polymorphism was not found in our study. The G allele frequencies of A313G polymorphism in AL, ALL, AML and B-ALL groups were 18.1% , 17.9% ,20.0% and 19.9% which higher than that of 14.9% in control group （P 〉 0. 05）. GSTP1 313AG 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 313GG genotype was linked with an increased risk of AML （OR =2.33, 95% CI： 0. 18- 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.

关 键 词：谷胱甘肽硫转移酶Pi 单核苷酸多态性 急性白血病 儿童 

分 类 号：R733.71[医药卫生—肿瘤]