武汉地区人群血小板特异性基因(HPA-1～17)的多态性分析

目的:研究武汉地区人群HPA-1~17基因的多态性及其表达频率,建立HPA基因型资料库。方法:采用序列特异性引物-聚合酶链反应(SSP-PCR)对284名健康的已加入中华骨髓库的血小板捐献者HPA基因进行分型,计算基因型频率、基因频率。结果:武汉地区健康血小板捐献者中检测出HPA-a基因中的1a~17a基因;各基因独立的分布频率中,HPA-1a(98.77%)、2a(97.01%)、3a(59.68%)、4a(99.82%)、5a(99.82%)、6a(98.42%)、15a(49.47%),HPA-7a~14a、16a和17a均为100%。仅检测出HPA-b基因中HPA-1b(1.23%)、2b(2.99%)、3b(40.32%)、4b(0.18%)、5b(0.18%)、6b(1.58%)、15b(50.53%),未检测出HPA-7b~14b、16b和17b。文中调查和分析了HPA基因组合型及其频率,发现武汉地区HPA基因有28种组合型,其中仅有3种基因组合型频率10%(44%),另外25种基因组合型的频率均9%(56%)。在与国内外不同地区人群HPA基因多态性分布的比较分析中发现,武汉地区人群中HPA基因频率与上海、成都地区人群没有差异性,与美国、英国、欧洲人群有较有明显差异,而与日本人群的差异较小。结论:HPA-3、15系统具有多态性,在随机血小板输注中,供受者HPA-3、HPA-15系统不配合的机会分别为36.54%、37.50%,是HPA配合性输注关注重点。HPA基因多态性研究数据有利于指导地区性血小板供者库库容的设计,配合临床开展选择适合性血小板输注具有重要意义。

Analysis of gene polymorphism of HPA-1 to -17 alloantigen system in Wuhan population

Objective：To analyze the allele frequencies and its polymorphisms of human platelet antigen 1 to 17 system in Wuhan population for preparation of setting up HPA genotype data bank. Method.. A total of 284 samples from healthy voluntary platelet donors in Wuhan were genotyped for HPA-1 to-17 by PCR-SSP and the genotype frequency and gene frequency were calculated. Result： HPA-la to- 17a alleles were found in each of the samples. The gene frequencies of HPA- 1a to-17a were 98. 77%,97.01%,59. 68%,99. 82%,99.82%,98. 42%,100%, 100%,100%,100%,100%,100%,100%,100%,49.47%,100%,and 100% respectively. The gene frequencies of HPA-1b to-6b and-15b alleles were 1. 22%, 2.99%, 40.32%, 0.18%, 0.18%, 1.58% and 50.53%o respectively; HPA-Tb to -14b and -16b -17b were not detected. This study for the first time investigated the assortment of HPA genes and their frequencies. There were 28 assortments in Wuhan population, only 3 assortment of HPA gene frequencies more than 10%, 25 assortment of HPA gene frequencies less than 9%. Compared with those of other Han populations in China, HPA frequency of Wuhan people was not different from those of Chengdu and Shanghai. Compared to that of the European, American and English, HPA frequency was different significantly . While HPA frequency was different from that of Japanese. Conclusion.. The system of HPA-3 and 15 in Wuhan population are polymorphic and it is the key point of HPA suitable infusion. The incompatibility rates of donor recipient HPA-3 and HPA-15 were 36.54% and 37.50% in random HPA infusion. The basic information provided by this study of the HPA system polymorphisms would be useful to guide the design of the local HPA genotype database of volunteer platelet donors. It would be also useful to avoid the PTR,and the HPA related clinical research.