现居东莞人群人类血小板1-6抗原系统基因分型研究

目的研究现居东莞人群人类血小板抗原（human platelet antigen, HAP） 1-6系统基因分型及其多态性分布特征。方法用DNA提取试剂盒提取外周血标本中的DNA；用聚合酶链式反应一序列特异性引物（PCR-SSP）扩增HPA等位基因。结果80名健康、无血缘关系的现居东莞人群每个样本均检测到HPA-1a、2a、4a、5a、6a基因；HPA-4a、5a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主要以a／a纯合子为多，a／a基因型频率分别是0．975、0．725、0．9625，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病理反应要低于其他种族人群。现居东莞人群HPA-1、-2、-3、-6系统具有多态性，HPA-2、-3抗原杂和率比较高，提示在临床输血实践中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血小板基因型已知供者库。

Analysis of Genetic Polymorphism in DongGuan Randomized Donors'' HPA 1-6 Antigens

Objective To characterize the allele frequencies and its polymorphisms of human platelet 1-6 antigen (HPA) in DongGuan population. 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, 5a ,6a alleles were found in each of the samples. HPA-4a, 5a all showed homozygous genotype with no responsive HPA-b alleles were found. HPA-1, -2, -6 mainly showed a/a homozygous, the frequencies of homozygous HPA-1a/a, 2a/a, 6a/a were 0.975, 0.725, 0.9625 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. For DongGuan population, the HPA systems HPA-1, -2, -3, -6 present genetic polymorphisms. And for HPA-2, -3, the frequencies of heterozygous (a/b) were higher than those of homozygous (b/b and a/a),which will be instrumental in understanding the importance of HPAs for immune-mediated platelet disorders. Moreover, the platelet gene bank of blood donors whose genotyping have been known are established on the basic information provided by this study of the HPA system polymorphisms.