现居东莞人群血小板同种抗原系统基因分型研究.doc

现居东莞人群人类血小板抗原系统基因分型研究 王德文 师玲玲 邹文涛 刘赴平 作者单位：东莞市中心血站，广东 东莞 523930 摘要：目的 研究现居东莞人群人类血小板抗原(HPA)系统基因分型及其多态性分布特征,并建立本地区血小板供者基因库。方法　用DNA提取试剂盒提取外周血标本中的DNA,用聚合酶链式反应-序列特异性引物(PCR-SSP)扩增HPA等位基因。结果　每个样本均检测到HPA-1a、2a、4a-14a、16a基因;HPA-4a、5a、7a、9a-14a、16a呈现纯合子单态性,未检测出相应的等位基因HPA-b;对于HPA-1、-2、-6、-8主要以a/a纯合子为多, a/a基因型频率分别是0. 9750、0. 7250、0. 9625、0. 9875,没有b/b纯合子出现。结论　HPA血型系统多态性具有人群特征。与其他种族相比,现居东莞人群HPA血型系统中a基因频率较高, b基因频率较低,提示在现居东莞人群中由b基因不合所引起的同种免疫反应要低于其他种族人群。现居东莞人群HPA-1、-2、-3、-6、-8、-15系统具有多态性,HPA-2、-3、-15抗原杂合率比较高,提示在临床上可能具有重要的免疫学意义。同时,在此次研究数据的基础上建立了现居东莞人群血小板基因频率数据库和基因型已知供者库。 关键词　人类血小板抗原；基因频率；供者库 Analysis of human platelet antigens genotype in DongGuan population WANG De-Wen SHI Ling-Ling ZOU Wen-Tao et al. (Dongguan Central Blood Station, Dongguan, 523930, Guangdong, China) Abstract: Objective To characterize the allele frequencies and its polymorphisms of human platelet antigen (HPA) in DongGuan population, and establish the platelet gene bank of blood donors whose genotype have been known. Methods: The genomic DNA of 80 healthy and unrelated individuals from blood donors was extracted from the peripheral blood samples with DNA extraction kit reagent and genotyped for by polymerase chain reaction with sequence specific primers (PCR-SSP). Results: HPA-1a, 2a, 4a-14a and 16a alleles were found in each of the samples. HPA-4a, 5a, 7a, 9a-14a, 16a all showed homozygous genotype with no responsive HPA-b alleles were found. HPA-1, -2, -6, -8 mainly showed a/a homozygous, the frequencies of homozygous HPA-1a/a, 2a/a, 6a/a, and 8a/a were 0.975, 0.725, 0.9625, 0.9875 respectively, and homozygous (b/b) were not detected. Conclusion: Polymorphism of HPA has differential population characteristic. Compared with other populations, population in DongGuan displayed higher proportion of the a alleles and also lower proportion of the b alleles, which in turn suggests the lower likelihood on diseases caused by the same kind of pathological immune response due to the discordance on b alleles.