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目的探讨药物相关代谢基因多态性(GSTT1缺失/野生,GTSM1缺失/野生,GSTP1 I105V)与儿童急性骨髓性白血病(AML)的易感相关性。方法入选87例儿童AML患者和120名健康对照儿童,采用多重PCR方法检测GSTM1和GSTT1基因缺失或野生基因型,采用焦磷酸测序方法检测GSTP1基因多态性,统计分析不同基因分布频率。结果 207名研究对象GSTT1野生和缺失基因型频率分别为69.1%和27.5%,GSTM1野生和缺失基因型频率分别为30.9%和72.5%;GSTP1 AA、AG、GG基因型频率为58%、33.8%、8.2%。病例组携带GSTT1、GTSM1缺失基因型比例略高于对照组(OR=0.685、95%CI=0.378~1.241,OR=0.742、95%CI=0.396~1.390),携带GSTP1 AA GG基因型患者略高于对照组,而AG基因型略低于对照组(OR=1.194、95%CI=0.645~2.150,OR=0.711、95%CI=0.237~1.820),但差异均无统计学意义。结论 GSTT1、GSTM1、GSTP1等位基因多态性与儿童AML易感相关。
Objective To investigate the susceptibility of drug-related metabolic polymorphisms (GSTT1 null / wild, GTSM1 null / wild, GSTP1 I105V) to childhood acute myeloid leukemia (AML). Methods Eighty-seven children with AML and 120 healthy controls were enrolled in this study. Multiplex PCR was used to detect GSTM1 and GSTT1 gene deletion or wild type. Pyrosequencing was used to detect GSTP1 gene polymorphism and statistical distribution of different genes was analyzed. Results The frequency of GSTT1 wild-type and deletion genotypes were 69.1% and 27.5%, respectively. The frequency of GSTM1 wild-type and deletion genotypes were 30.9% and 72.5% respectively. The frequencies of GSTP1 AA, AG and GG genotypes were 58% and 33.8% , 8.2%. The cases with GSTT1 and GTSM1 deletion genotypes were slightly higher than the control group (OR = 0.685, 95% CI = 0.378-1.241, OR = 0.742, 95% CI = 0.396-1.390) (OR = 1.194, 95% CI = 0.645 ~ 2.150, OR = 0.711, 95% CI = 0.237 ~ 1.820), but the difference was not statistically significant. Conclusion The polymorphisms of GSTT1, GSTM1 and GSTP1 are associated with the susceptibility to AML in children.