昆明地区单采血小板献血者HPA1-17系统基因多态性的分析

Analysis of gene polymorphism of human platelet antigen 1-17 system in platelet donors of Kunming

目的研究昆明地区单采血小板献血者HPA1-17基因多态性,建立已知型血小板献血者基因数据资料库。方法分别PCR-SSP方法对1000名昆明地区无血缘关系的单采血小板献血者做HPA-1-17系统基因分型,计算基因型频率、基因频率,并与其他人群进行比较。结果在昆明地区人群中均检测到HPA-1a,2a,4a-14a,16a,17a基因;HPA-4a,7a-14a,16a,17a呈现单态性,未检测出相应的等位基因HPA-b;对于HPA-1、-2、-5、-6主要以a/a纯合子为多,a/a基因型频率分别是0.989、0.96、0.99、0.98,没有b/b纯合子出现。在HPA1-17中,具有最高杂合度的是HPA-15,基因型HPA15a/15a,HPA15a/15b,HPA15b/15b频率分别是0.392、0.36、0.248;HPA-3在其次,基因型HPA3a/3a,HPA3a/3b,HPA3b/3b频率分别是0.339、0.467、0.194。经χ2检验,结果符合Hardy-Weinberg遗传平衡定律。结论昆明地区单采血小板献血者HPA1-17基因频率与中国南方汉族接近,也呈现其自身的特点,应建立本地区的单采血小板献血者基因分型数据库。

Objective To investigate the genetic polymorphism of HPA1-17 alleles in Kunming platelet donors and establishment of typed platelet donor data bank.Methods The technique of PCR-sequence specific primers（PCR-SSP） method was adopted in genotyping HPA1-17.Samples of 1000 unrelated platelet dornors were collected from Kunming,Yunnan Province,China.The allele frequency HPA1-17 was calculated,and the allele frequency distribution in this population was compared with the results from other regions.Results The HPA results indicated that HPA-1a,2a,4a-14a,16a and 17a genes were found among the 17 HPAs in every sample tested.Monomorphic HPA-4a,7a-14a,16a and 17a were found in the samples.For HPA-1,2,5 and 6,a/a homozygosity was predominant with fequencies of 0.989,0.96,0.99,0.98 respectively,and none of HPA b/b was found in the samples.HPA-1b,2b,5b,6b were rarely found among subjects.HPA-15 had the greatest heterozygosity with a gene frequency of 0.392,0.36,0.248 for HPA15a/15a,HPA15a/15b,HPA15b/15b,repetitively.HPA-3 showed the second greatest heterozygosity with a gene frequency of 0.339,0.467,0.194 for HPA3a/3a,HPA3a/3b,HPA3b/3b,respectively.HPA genotype frequencies showed a good fit to Hardy-Weinberg equilibrium.Conclusion Distribution of the allele polymorphism of and HPA1-17 in Kunming population is similar to that in Southern Han population,and it exhibits its own characteristic.We established the local HPA genotyped database of platelet donors in Kunming.