中文摘要：

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、NQ01基因型，用多重PCR方法检测GSTF1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），RAD51cmcG／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，XRCC3G241T，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，0R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NQ01C609-为变异基因型，0R值增至17．091。MDS患者RAD51cⅢc和XRCC3。㈨，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RAD51C135C之间，及与GSTM1和NQ01C509-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。

英文摘要：

Objective To investigate the impact of RAD51 GI35C and XRCC3C241T genotypes on susceptibility to acute myeloid leukemia（AML） and myelodysplastic symdromes（MDS） and the relationship between the genotypes and karyotype abnormalities. Methods RAD51G135C, XRCC3C241T, NQOlcrogT, GSTF1 and GSTM1 genotypes were detected by PCR or PCR-RFLP in 306 adult patients with de novo AML, 52 with MDS and 458 control subjects. Results There was a significant difference in the incidence of HAD51G135C G/C genotype between AML patients（35.3% ） and controls（26.9% ） （ P = 0. 023）. The incidence of XRCC3c24tT heterozygous in patients with inv（16） and/or t（16;16）/CBFB- MYH11 （ ＋ ） AML（41.2% ） was significant- ly higher than that in controls（ 10.0% ） （P =0.1300）. In individuals with XRCC3C241T polymorphic allele, the odds ratios for the risk to inv（16） and/or t（16;16）/CBFB- MYH11 （ ＋ ） AM L were elevated to 6.133 （95% Cl：2. 227 - 16.887, P = 0. 0013 ）. The risk to the development of inv （ 16 ） and/or t （ 16 ; 16 ） / CBFB -MYH 11 （ ＋ ） AML was significantly increased when there were both RAD51G135C and XRCC3C241T alleles （ OR = 8. 697 ）. If there was a null GSTMI genotype or NQO1C609T polymorphic allele in combination with the double homologous recombination（HR） gene variants, the risk to inv （ 16 ） and/or t （ 16 ; 16）/CBFB-MYH11 （ ＋ ） AML was further increased to 12. 656 and 17. 091, respectively. There was no significant difference in in incidence of RAD51G135C and XRCC3C241T genotypes between MDS patients and eontrol.Conclusion XRCC3C241T genotypes detection may be used as a strafification marker to predicate high-risk individuals for AML with inv（16） and/or （16：16）/CBFB-MYH11 fusion gene.In addition to the combined effects of the HR repair genes,there were significant combinations between these two HR genes and the detoxification GSTM1/NQO1 genes.There is no difference in the incidence of RAD51G135C and XRCC3C241T genotypes be