FCGR2B基因多态性与儿童特发性血小板减少性紫癜易感性的相关性研究  

Relationship between Polymorphisms of FCGR2B and Susceptibility of Children Idiopathic Thrombocytopenic Purpura

作　　者：何丽雅[1] 黄鈺君 赖冬波[1] 赵明博[1] 张文英[1] 徐涛[1] 王嘉怡[1] 石军[1] 赵玉红[1] 许秀贤[1] 

机构地区：[1]广州市儿童医院血液肿瘤科,广东广州510120

出　　处：《中国实验血液学杂志》2009年第3期729-733,共5页Journal of Experimental Hematology

基　　金：广东省科技厅课题基金资助项目,编号30307-3200709

摘　　要：本研究探讨FCGR2B232I/T单核苷酸多态性与儿童特发性血小板减少性紫癜(idiopathic thrombocytope-nic purpura,ITP)易感性的相关关系。采用多聚酶链式反应-直接测序方法检测76例ITP患儿及37例正常对照儿的FCGR2B-232基因多态性,比较两组间基因型分布及等位基因频率的差异。结果发现,患者组中,I/I基因型42例,占55.3%;I/T基因型32例,占42.1%;T/T基因型2例,占2.6%。对照组中I/I基因型30例,占81.1%;I/T基因型7例,占18.9%;未发现T/T基因型。基因型表达在两组比较具有显著性差异(p<0.05)。等位基因Ile及Thr在患者组和对照组所占比例分别为76.3%和90.5%及23.7%和9.5%,两组比较具有显著性差异(p<0.05),患者组等位基因Thr基因频率显著高于对照组。分析等位基因Thr危险度,发现OR为2.97,95%可信区间为1.25-7.05。Hardy-Weinberg平衡检验显示等位基因Ile与Thr的分布符合遗传规律。结论:人群中FCGR2b基因I232T多态性与ITP易感性具有相关性,等位基因232T很可能是儿童ITP发病的危险遗传因素。The aim of study was to investigate the relationship between polymorphisms of FCGR2B232 1/T oligonucleotide and the susceptibility of children with idiopathic thrombocytopenic purpura （ITP）. DNA from 76 patients with ITP and 37 controls was extracted. The SNPs of FCGR2B-232 was detected by polymerase chain reaction （PCR） combined with direct sequencing. The genotype distribution and allele frequency among different groups were compared. The results showed that the genotype （I/I,I/T,T/T） of FCGR2B-232 were 55.3% ,42. 1% ,and 2.6% in 76 patients with ITP, while 81.1% ,18.9% ,0% in 37 controls. The allele frequencies of FCGR2B-232 in patients with ITP were 76.3 % （1232） and 23.7% （T232）, but 90.5% and 9.5% in controls. There were significant differences in genotype distributions between the ITP patients and controls （ ~2 = 7.45, = 0. 024）. The enrichment in Thr232 allele carrier was also significant among the ITP patients as compared with the controls （ X2 = 7.18, p = 0. 007, odds ratio 3.47 ）. There were also significant differences in allele frequencies between the ITP patients and controls [ X2 = 6.54, p = 0.011, odds ratio 2.97, 95% CI （1.25 -7.05） J. It is concluded that the polymorphisms of FCGR2B-232 significantly correlates with the susceptibility of children suffering from ITP. The minor Thr232 allele may be a risk genetic factor to ITP children.

关 键 词：特发性血小板减少性紫癜 FCGR2B 基因多态性 

分 类 号：R554.6[医药卫生—血液循环系统疾病]