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目的探索同源重组修复基因RAD51和XRCC3多态性与急性髓系白血病(AML)、骨髓增生异常综合征(MDS)发生及染色体异常之间的关系。方法对306例AML患者、52例MDS患者和458名与患者无血缘关系的正常人,用聚合酶链反应-限制性内切酶片段长度多态性(PCR-RFLP)方法分析RAD51、XRCC3、NQO1基因型,用多重PCR方法检测GSTT1和GSTM1基因型。结果AML患者RAD51G135CG／C基因型比例(35．3％)与正常对照组(26．9％)比较差异有统计学意义(P= 0．023),RAD51G135CG／C基因型患AML的相对风险性(OR值)为1．441(95％CI:1．052～1．973)。inv(16)和(或)t(16;16)／CBFB-MYH11(+)患者,XRCC3C241T杂合子基因型的比例(41．2％)明显高于正常对照组(10．0％)(P=0．000),XRCC3C241T杂合子基因型患inv(16)和(或)t(16;16)AML的OR值为6．133(95％CI:2．227～16．887,P=0．000);且不同基因之间有显著的协同效应,XRCC3C241T和RAD51G135C同时为变异基因型,OR值增高至8．697,在此基础上同时GSTM1为缺失型,OR值增至12．656,同时NQO1C609T为变异基因型,OR值增至17．091。MDS患者RAD51G135C和XRCC3C241T各基因型比例与正常对照组比较差异无统计学意义。结论XRCC3C241T基因型与inv(16)和(或)t(16;16)／CBFB-MYH11(+)AML发生高度相关,此相关性与XRCC3C241T和RAD51G135C之间,及与GSTM1和NQO1C609T基因之间存在显著的协同效应。RAD51G135C和XRCC3C241T基因型与MDS发生及MDS染色体异常之间未发现有相关性。
Objective To explore the relationship between homologous recombination genes RAD51 and XRCC3 polymorphisms and acute myeloid leukemia (AML), myelodysplastic syndrome (MDS) and chromosomal abnormalities. Methods A total of 306 patients with AML, 52 patients with MDS and 458 healthy persons without relatives were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method to analyze the expression of RAD51, XRCC3, NQO1 genotypes, GSTT1 and GSTM1 genotypes were detected by multiplex PCR. Results The proportion of RAD51G135CG / C genotype (35.3%) in AML patients was significantly different from that in normal controls (26.9%) (P = 0.023). The relative risk of AML in RAD51G135CG / C genotype (OR value) was 1.441 (95% CI: 1.052-1.973). The proportion of XRCC3C241T heterozygote (41.2%) was significantly higher in patients with inv (16) and / or t (16; 16) / CBFB-MYH11 (+ = 0.000). The odds ratio (OR) of invitro (16) and / or t (16; 16) AML in XRCC3C241T heterozygous genotype was 6.133 (95% CI: 2.227-16.887, P = 0 .000), and there was a significant synergistic effect among different genes. XRCC3C241T and RAD51G135C were both genotypes with OR value increased to 8.697. On the basis of this, GSTM1 was deleted at the same time, OR value increased to 12.656, At the same time NQO1C609T is a variant genotype, OR value increased to 17.091. The genotypes of RAD51G135C and XRCC3C241T in MDS patients were not significantly different from those in normal controls. Conclusion The genotype of XRCC3C241T is highly correlated with inv (16) and / or t (16; 16) / CBFB-MYH11 (+) AML. The correlation between XRCC3C241T and RAD51G135C and between GSTM1 and NQO1C609T Significant synergies. No correlation was found between the genotypes of RAD51G135C and XRCC3C241T and the occurrence of MDS and MDS chromosomal abnormalities.