遗传 ›› 2007, Vol. 29 ›› Issue (2): 177-177―179.doi: 10.1360/yc-007-0177

• 研究报告 • 上一篇    下一篇

中国大陆地区发现一例罕见的血小板抗原HPA-10bw等位基因报告

冯明亮1, 沈彤1, 黄慧1, 沈伟1, 王健莲1, 刘达庄1, 赵桐茂2   

  1. 1. 上海市血液中心, 上海 200051; 2. 美国国立卫生研究院, Bethesda, MD 20892

  • 收稿日期:2006-06-01 修回日期:2006-07-20 出版日期:2007-02-10 发布日期:2007-02-10
  • 通讯作者: 刘达庄

Case report of a rare platelet-specific antigen HPA-10bw allele found in Chinese mainland

FENG Ming-Liang1, SHEN Tong1, HUANG Hui1, SHEN Wei1, WANG Jian-Lian1,
LIU Da-Zhuang1, ZHAO Tong-Mao2

  

  1. 1. Shanghai Blood Center, Shanghai 200051, China;
    2. National Institutes of Health, Bethesda, MD 20892, USA

  • Received:2006-06-01 Revised:2006-07-20 Online:2007-02-10 Published:2007-02-10
  • Contact: Dazhuang Liu

摘要:

采用序列特异性引物-聚合酶链式反应(PCR-SSP)为基础的人类血小板抗原(HPA)基因分型技术做群体调查, 在1,000例受检者中发现1例罕见的HPA-10w(a+b+)杂合子个体, 为了验证分型的可靠性, 使用PCR反应特异性扩增HPA-10基因片段, 然后测序分析。结果表明, nt263位G→A导致GPⅢa糖蛋白第62位精氨酸(CGA)→谷氨酰胺(CAA), 产生HPA-10bw抗原特异性。在中国人群中检测出HPA-10bw低频抗原, 提示在血小板同种免疫引起的新生儿同种免疫血小板减少症(NAIT)、输血后紫癜症(PTP)以及血小板输注无效症(PTR)的诊断中, 该抗原具有临床意义。

关键词: 中国人群, HPA-10bw抗原, DNA测序, PCR-SSP HPA基因分型

Abstract:

A total of 1,000 Chinese blood donors were typed for human platelet antigens (HPA) using a sequence specific primers -polymerase chain reaction (PCR-SSP) based HPA genotyping method. An individual with a rare HPA-10w(a+b+) genotype was found. In order to confirm the typing results, a fragment of HPA-10 gene was amplified by PCR and then sequenced. Sequencing data showed that a single G to A substitution at nucleotide 263 occurred, resulting in amino acid change from Arg(CGA) to Gln(CAA) at position 62 of GPⅢa protein. The substitution generated antigenic specificity HPA-10bw. The detection of an HPA-10bw allele in the Chinese population suggests that this rare allele should be considered in platelet alloimmunization, such as neonatal alloimmune thrombocytopenia (NAIT), post-transfusion thrombocytopenic purpura (PTP) and post-transfusion refractoriness to platelets (PTR).