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中国汉族人群中 HPA-18w 至 HPA-21w 等位基因的流行率。

Prevalence of the HPA-18w to -21w alleles in the Chinese Han population.

机构信息

Blood Center of Zhejiang Province, Hangzhou, Zhejiang, China.

出版信息

Int J Immunogenet. 2013 Apr;40(2):99-103. doi: 10.1111/j.1744-313X.2012.01142.x. Epub 2012 Aug 4.

DOI:10.1111/j.1744-313X.2012.01142.x
PMID:22862885
Abstract

Recently, four new platelet alloantigen (HPA) systems HPA-18w to-21w were identified. However, genotyping for HPA-18w to -21w alleles was rarely reported. Here, we established a polymerase chain reaction sequence-based typing (PCR-SBT) method and investigated the distribution of HPA-18w to -21w alleles in the Chinese Han population. The specific primers of HPA-18w, -19w, -20w and -21w were designed, and the PCR products were bidirectionally sequenced. 855 randomly selected platelet donors were genotyped for HPA-18w to -21w with the PCR-SBT method. The results showed that all individuals were monomorphic for HPA-18w to HPA-20w with a/a homozygous frequency of 1.0 and absence of HPA-18bw to -20bw alleles. The frequencies of the HPA-21a/21a and HPA-21a/21b genotypes were 0.981(839/855) and 0.019(16/855), respectively. Seven mutations were confirmed on sequenced region separate from HPA polymorphisms, including ITGA2 (IVS17+48G>A and IVS17+72G>A), ITGA2B (IVS19-26C>G) and ITGB3 (IVS4+234C>T, IVS11-19 T>C, IVS11-104T>C and GT repeats from IVS11-131 to IVS11-109). These data will provide useful information for diagnosis, prevention and treatment of alloimmune thrombocytopaenia.

摘要

最近,发现了四个新的血小板同种异体抗原(HPA)系统 HPA-18w 至 21w。然而,HPA-18w 至-21w 等位基因的基因分型很少报道。在这里,我们建立了一种聚合酶链反应序列-基于分型(PCR-SBT)方法,并研究了 HPA-18w 至-21w 等位基因在中国汉族人群中的分布。设计了 HPA-18w、-19w、-20w 和-21w 的特异性引物,对 PCR 产物进行双向测序。用 PCR-SBT 方法对 855 名随机选择的血小板供体进行 HPA-18w 至-21w 的基因分型。结果表明,所有个体在 HPA-18w 至 HPA-20w 均为单态性,a/a 纯合子频率为 1.0,不存在 HPA-18bw 至-20bw 等位基因。HPA-21a/21a 和 HPA-21a/21b 基因型的频率分别为 0.981(839/855)和 0.019(16/855)。在与 HPA 多态性分离的测序区域共证实了 7 个突变,包括 ITGA2(IVS17+48G>A 和 IVS17+72G>A)、ITGA2B(IVS19-26C>G)和 ITGB3(IVS4+234C>T、IVS11-19 T>C、IVS11-104T>C 和 GT 重复从 IVS11-131 到 IVS11-109)。这些数据将为同种免疫性血小板减少症的诊断、预防和治疗提供有用的信息。

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