【作者】 张战强；

【导师】 肖志坚；

【作者基本信息】 中国协和医科大学 ， 内科学， 2008， 博士

【摘要】 研究目的探索NQ01_C609T,RAD51_G135C和XRCC3_C241T单核苷酸多态性与急性淋巴细胞白血病（acute lymphoblastic leukemia,ALL）发生的关系。研究方法170例ALL患者和458名与患者无血缘关系的正常人对照,用聚合酶链反应-限制性内切酶片断长度多态性（Polymerase chainreaction-restriction fragment length polymorphism,PCR-RFLP）方法分析NQ01_C609T,RAD51_G135C和XRCC3_C241T基因型。结果在单基因水平,NQ01_C609T,RAD51_G135C和XRCC3_C241T基因型比例在正常对照和ALL患者之间无统计学差异,提示其单独作用时对ALL发病无统计学影响。当三基因联合分析时,NQ01_C609T和RAD51_G135C均为变异型时增加伴髓系抗原阳性的ALL和伴平衡易位ALL的发病风险（OR值分别为5.553和2.618）;NQ01_C609T纯合变异型增加儿童农村ALL的发病风险（OR值为2.541）。结论NQ01_C609T、RAD51_G135C和XRCC3_C241T基因型联合作用可能促进ALL的发病,提示多基因联合分析较单基因可能对ALL的发病更有预测意义。更多还原

【Abstract】 Objective To investigate the effects of NQ01_C609T,RAD51_G135Cand XRCC3_C241T genotypes on the acute lymphoblastic leukemia（ALL） susceptibility.Methods NQ01_C609T,RAD51_G135C,XRCC3_C241T genotypes were detected in 170 patients with de novo ALL and 458 controls by PCR-RFLP.Results Polymorphisms in NQ01_C609T,RAD51_G135C and XRCC3_C241Tgenes did not seem to play an important role in the aetiology of ALL independently.To assess gene-gene interactions,NQ01_C609T was considered together with RAD51_G135C and XRCC3_C241T genes.The combined presence of both variant NQ01_C609T and RAD51_G135C alleles appeared to confer an increased risk of acute lymphoblastic leukemia with myeloid antigen and ALL with translocations among the carriers（OR=5.553 and 2.618 respectively）,The presence of homozygosity for NQ01_C609T appeared to confer an increased risk of ALL in the country-children（OR=2.541）.Conclusion The combination of might contribute to the leukemogenesis of ALL,and the combination of susceptibility variants is more predictive of the risk for ALL than either of them independently.更多还原