RAD51-G135C和XRCC3-C241T单核苷酸多态性与急性髓系白血病发病相关性研究  

Relationship between RAD51-G135C and XRCC3-C241T Single Nucleotide Polymorphisms and Onset of Acute Myeloid Leukemia

作　　者：苗蕾[1] 钱锡峰[2] 杨国华[2] 赵利东[1] 

机构地区：[1]徐州医学院附属连云港医院血液科,江苏连云港222000 [2]无锡市人民医院血液科,江苏无锡214000

出　　处：《中国实验血液学杂志》2015年第3期605-611,共7页Journal of Experimental Hematology

基　　金：国家自然青年科学基金资助项目(81200361)

摘　　要：目的:探讨RAD51-G135C和XRCC3-C241T单核苷酸多态性与急性髓系白血病(AML)发病的相关性。方法:研究分为两组:AML患者组(545例AML患者的外周血样本)和对照组(1 034名与患者无血缘关系的正常人的外周血样本),分别抽提2组基因组DNA,通过Taq Man探针实时荧光定量PCR技术分析RAD51-G135C和XRCC3-C241T基因多态性,并分析两者多态性与急性髓系白血病发病相关性。结果:与对照组相比,RAD51-G135C纯合变异型(CC)可显著增加AML患者的发病风险(OR=3.07),而RAD51-G135C杂合变异型(GC)与AML发病无统计学相关性。XRCC3-C241T纯合变异型(TT)与AML发病尚无统计学相关性,而XRCC3-C241T杂合变异型(CT)却可增加AML患者的发病风险(OR=0.66)。结论:RAD51-G135C纯合变异型和XRCC3-C241T杂合变异型显著增高AML的发病风险,对AML的发病更有预测价值。Objective：To investigate the relationship between RAD51-G135C and XRCC3-C241T single nucleotide polymorphisms and onset of acute myeloid leukemia （AML）. Methods：The study was performed in 2 groups： AML patient group and normal person group as control group. Genomic DNA was extracted from peripheral blood cells of 545 AML patients and 1 034 normal persons. G-enotypes of RAD51-GI35C and XRCC3-C241T were analyzed by TaqMan probe technology and the ralatienship between RAD51-G135C/XRCC3-C241 T polymorphisms and onset of acute myeloid leukemia was investigated. Results：Compared with the control group, RAD51-G135C homozygous mutant （CC） could significantly increase the risk of AML patients （OR = 3. 07 ）, and there was no statistical relationship between heterozygous mutant （GC） of RAD51-G135C and onset of AML. There was no statistical relationship between homozygous mutant （TT） of XRCC3-C241T and onset of AML, and the XRCC3-C241T heterozygous mutation type （CT） increased the risk of AML patients （OR = 0.66 ）. Conclusion ：RAD51-G135C homozygous mutant and XRCC3- C241T heterozygous mutation significantly increase the risk of the AML onset, which can provide more predictive value for incidence of AML.

关 键 词：急性髓系白血病 RAD51基因 XRCC3基因 单核苷酸多态性 同源重组修复 

分 类 号：R733.71[医药卫生—肿瘤]