人类白细胞抗原-DQA1区基因多态性与血友病A患者凝血因子Ⅷ抑制物的相关性研究  

Correlation between presence of factor Ⅷ inhibitor and HLA-DQA1 gene polymorphisms

作　　者：梁弘正[1] 杨林花[1] 刘秀娥[1] 张睿娟[1] 赵华[1] 秦秀玉[1] 陈剑芳[1] 

机构地区：[1]山西医科大学第二医院血液科,太原030001

出　　处：《中国药物与临床》2013年第7期833-836,共4页Chinese Remedies & Clinics

基　　金：国家自然科学基金(81070412);卫生公益性行业科研专项经费项目(201202017);山西省归国留学基金(2009重点7)

摘　　要：目的探讨人类白细胞抗原(HLA)-DQA1区基因多态性与血友病A患者凝血因子Ⅷ(FⅧ)抑制物发生的相关性。方法采用聚合酶链反应-序列特异性引物技术(PCR-SSP),对130例HA患者和90名健康对照者的HLA-DQA1区基因多态性进行检测。采用Bethesda法检测HA患者FⅧ抑制物活性。结果 130例HA患者中,检出6例FⅧ抑制物阳性患者(全部为重型),占重型患者的6.8%;对所检测FⅧ抑制物阳性患者HLA-DQA1区的各等位基因,占全部HA患者的等位基因阳性率及其在重型HA患者的等位基因阳性率作比较,差异无统计学意义(P值均>0.05)。结论尚不能证明该区各等位基因与抑制物发生具有相关性。Objective To investigate the correlation between presence of factor Ⅷ inhibitor and human leuko-cyte antigen-DQA1 （HLA-DQA1） gene polymorphisms in patients with hemophilia A. Methods HLA-DQA1 gene polymorphisms were analyzed in 130 patients with hemophilia A and 90 normal controls by using polymerase chain reaction-sequence specific primer （PCR-SSP）. The Bethesda method was employed to assay the activity of factor Ⅷ inhibitor. Results Of 130 patients with HA, 6 （6.82%） with severe HA tested positively to FVⅧ inhibitors. The differ-ence in the positivity of HLA-DQA1 gene alleles between those with and without presence of factor Ⅷ inhibitor or severe HA was unremarkable （both P〉0.05）. Conclusion The fact that an unremarkable difference in the incidence of HLA-DQA1 polymorphisms between patients with HA and normal controls remains insufficient to warrant the cor-relation between HLA-DQA1 gene allele polymorphisms and presence of FVⅧ inhibitors.

关 键 词：血友病A 凝血FⅧ抑制物 HLA—DQ抗原 基因多态性 

分 类 号：R554.1[医药卫生—血液循环系统疾病]