谷胱甘肽硫转移酶基因多态性与儿童获得性再生障碍性贫血易感性关系的初步研究  

Study on the relationship between genetic polymorphisms of glutathione S transferases T1,M1 genes and susceptibility of children with acquired aplastic anemia

作　　者：文金全[1] 冯海琳[1] 庞菊萍[1] 王华[1] 李丹[1] 孟烈素[2] 

机构地区：[1]西安市儿童医院血液科,710003 [2]西安交通大学遗传分子生物学系

出　　处：《中国小儿血液与肿瘤杂志》2011年第3期113-116,共4页Journal of China Pediatric Blood and Cancer

基　　金：陕西省科学技术研究发展计划项目(2006K14-G5)

摘　　要：目的探讨谷胱甘肽硫转移酶(Glutathione S transferases,GST)基因多态性与儿童再生障碍性贫血(AA)易感性的关系。方法选择本院2005年6月-2008年6月确诊的42例初诊AA患儿,对照组选择68例保健门诊查体儿童,分别抽取骨髓及外周血2 mL,用淋巴细胞分离液提取单个核细胞,储存于-49℃冰箱备用。用血液TIANamp Genomic DNA kit提取DNA,多重PCR检测GSTT1和GSTM1基因型。结果 GSTT1基因型:AA组42例,基因缺失16例(38%);对照组68例,缺失36例(53%),两组缺失率差异无统计学意义(χ2=2.296,P=0.1297)。GSTM1基因型:AA组缺失15例(36%);对照组缺失34例(50%),两组缺失率差异无统计学意义(χ2=2.145,P=0.1430)。GSTT1/GSTM1基因双缺失型:AA组双缺失6例(14%);对照组双缺失20例(29%),两组比较差异无统计学意义(χ2=3.291,P=0.0697)。结论 AA患儿GSTT1、GSTM1基因缺失率似乎低于对照组,但差异无统计学意义。儿童GSTT1、GSTM1基因缺失对AA的易感性可能降低,需要进一步扩大样本研究予以验证。Objective To explore the potential relationship between genetic polymorphisms of glutathione reductase-S transferases T1,M1 genes and the susceptibility of children with acquired aplastic anemia in Shanxi Province.Methods Forty-two children with acquired aplastic anemia and 68 normal controls treated in Xi′an Children′s Hospital from June of 2005 to June of 2008 were enrolled into this study.The genetic polymorphisms of GSTT1 and GSTM1 genotypes were detected by multiplex polymerase chain reaction.Chi-square analysis was used to compare the rate of gene deletion between patient and control groups.Odds ratio（OR） and 95% of confidence interval（CI） were analyzed meanwhile.Results There were no significant differences of gene deletion rate between patient and control groups.Conclusion The gene deletion rate in children with acquired aplastic anemia appeared to be lower than the control,though there were no statistical differences between the two groups.The susceptibility of children with GSTT1 and GSTM1 deletion might decreased,which needed further validation by more samples.

关 键 词：谷胱甘肽硫转移酶 基因多态性 儿童 贫血 再生障碍性 

分 类 号：R725.5[医药卫生—儿科]