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
发布时间：2015年09月15日
来源：南宁输血医学研究所血小板免疫学网 阅读次数：
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| 作者：廖燕 申卫东 李丽兰 周先果 何保仁 刘金莲 黄惠妮来源：国际输血及血液学杂志, 2014, 37(4):329-332.【摘要】 目的 探讨广西瑶族人群血小板膜糖蛋白(GP)Ibα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，采用聚合酶链反应一序列特异性引物(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／2a，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-2a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GPIbα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。【关键词】血小板膜糖蛋白；抗原，人类血小板；多态性，基因；瑶族Genetic Polymorphism and Clinical Significance of Human Platelet Antigen-2 in Platelet Membrane Glycoprotein Ibα of Yao Minority Population in Guangxi Zhuang Autonomous RegionLiao Yan，Shen Weidong，Li Lilan，Zhou Xianguo，He Baoren，Liu J inlian，Huang Huini．International Journal of Blood Transfusion and Hematology, 2014, 37(4):329-332.[Abstract] Objective To investigate the genetic polymorphism and clinical significance of human platelet antigen(HPA)-2 in platelet membrane glycoprotein(GP)Ibα 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-2h／2h were 0．763 3，0．218 6 and 0．018 l 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 ba 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 ba in individual predisposition to prothrombotic conditions and response to antithrombotic therapy．Data obtained in this study can be used forbetter understanding and treatment of immune-mediated platelet disorders in Guangxi Autonomous Region．[Key words] Platelet membrane glycoprotein; Antigen，human platelet；Polymorphism，genetic；Yao minority |
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