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.pdfVIP

HEREDITAS (Beijing) 2007 2 , 29(2): 177―179 ISSN 0253-9772 研究报告 DOI: 10.1360/yc-007-0177 HPA-10bw 1 1 1 1 1 1 2 冯明亮 , 沈彤 , 黄慧 , 沈伟 , 王健莲 , 刘达庄 , 赵桐茂 1. , 200051; 2. , Bethesda, MD 20892 : 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。 : 中国人群; HPA-10bw 抗原; PCR-SSP HPA 基因分型; DNA 测序 Case report of a rare platelet-specific antigen HPA-10bw allele found in Chinese mainland 1 1 1 1 1 FENG Ming-Liang , SHEN Tong , HUANG Hui , SHEN Wei , WANG Jian-Lian , 1 2 LIU Da-Zhuang , ZHAO Tong-Mao 1. Shanghai Blood Center, Shanghai 200051, China; 2 . National Institutes of Health, Bethesda, MD 20892, USA 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 GPa protein. The substitution generated antigenic specificity HPA-10bw. The detection of an HPA-10bw allele in the Chinese population suggests that this rare