广西瑶族人群血小板膜糖蛋白Ⅰbα HPA-2基因多态性及其临床意义

Genetic Polymorphism and Clinical Significance of Human Platelet Antigen-2 in Platelet Membrane Glycoprotein Ⅰ bα of Yao Minority Population in Guangxi Zhuang Autonomous Region

目的 探讨广西瑶族人群血小板膜糖蛋白（GP）Ⅰ bα人类血小板抗原（HPA）-2基因多态性及其临床意义.方法 2009年3月至2010年5月,选择广西瑶族健康成年人883例为研究对象,采集其血液样本,采用聚合酶链反应-序列特异性引物（PCR-SSP）法对其HPA基因分型进行检测.采集样本前均经受试对象本人的知情同意,并与之签订临床研究知情同意书.结果 本组883份血液样本中,HPA-2a/2α,HPA-2a/2b及HPA-2b/2b的基因型频率分别为0.763 3,0.218 6和0.018 1.HPA-2α与HPA-2b的等位基因频率分别为0.872 6与0.127 4,与大部分欧洲国家研究的基因型频率相似,但与中国汉族和东南亚人相比,差异较大.本组883份血样中,发现1例罕见HPA-2b/2b 482T/T突变.结论 本研究明确了广西瑶族人群主要血小板GP Ⅰ bα多态性的特征,可为将来研究血小板GPⅠbα在个体易感血栓性疾病和抗血栓治疗提供重要参考依据,更好地应用于理解和治疗免疫介导的血小板疾病.

Objective To investigate the genetic polymorphism and clinical significance of human platelet antigen （HPA）-2 in platelet membrane glycoprotein （GP） Ⅰ bα in Yao minority population of Guangxi Zhuang Autonomous Region.Methods From March 2009 to May 2010,a total of 883 healthy adults from Yao minority in Guangxi Zhuang Autonomous Region were randomly selected into the study and their blood samples were collected.HPA genotypes of all the Yao minority population healthy adults were analyzed by polymerase chain reaction with sequence-specific primers （PCR-SSP）.（Informed consent was obtained from all participants before collecting the blood samples.） Results Among the 883 blood samples,the genotype frequencies of HPA-2a/2a,HPA-2a/2b and HPA-2b/2b were 0.763 3,0.218 6 and 0.018 1 respectively.The gene frequencies of HPA-2a and HPA-2b were 0.872 6 and 0.127 4 which were similar to the frequencies reported in most European studies,but quite different from Chinese Han population and Southeast Asia population.Among the 883 blood samples,1 case of HPA-2b/2b 482T/T rare mutation was found.Conclusions The main characteristic of platelet GP Ⅰ bα polymorphisms of Yao minority population in Guangxi Zhuang Autonomous Region has now been defined in the study,which will be an important evidence for further studies to assess the role of platelet GP Ⅰ bα in individual predisposition to prothrombotic conditions and response to antithrombotic therapy.Data obtained in this study can be used for better understanding and treatment of immune-mediated platelet disorders in Guangxi Autonomous Region.