维吾尔族血小板抗原1～5、15系统基因多态性分析

目的：调查研究与血小板输注无效关系密切的人类血小板抗原（human platelet antigen，HPA）1～5及15系统基因在维吾尔族人群中的遗传多态性；分析民族差异，确定各系统临床意义，从而建立已知基因型血小板供者库。方法：采用聚合酶链一序列特异性引物技术（PCR—SSP）对153例无血缘关系的纯维吾尔族血样进行了HPA基因分型。结果：维吾尔族HPA-1a、2a、3a、4a、5a、15a基因频率分别是0．9118、0．8889、0．5458、0．9935、0．9216、0．4412，维吾尔族HPA-1b、2b、3b、4b、5b、15b基因频率分别是0．0882、0．1111、0．4542、0．0065、0．0784、0．5588，维吾尔族HPA基因频率与汉族人群相比，HPA-1a，1b、3a、3b、5a、5b基因频率差异具有统计学意义（P〈0．05）；与西藏藏族人群相比，HPA-3a、3b、5b基因频率差异具有统计学意义（P〈O．05）。结论：维吾尔族人群中HPA1～5、15系统12个等位基因都可以检测到。在不同的个体中它们以纯合子或杂合子状态表达，但未检测到纯合子1b或纯合子4b型个体。HPA-1、2、3、4、5、15系统均具有多态性，其中HPA-3、15系统具有高度多态性，这使免疫暴露的机会增加。维吾尔族人群与汉族人群的HPA-1a、1b、3a、3b、5a、5b基因频率存在明显差异，与藏族人群的HPA-3a、3b、5b基因频率存在明显差异。

Analysis on the genetic polymorphism of human platelet antigen (HPA)1～5 and 15 systems in Uighurs

Objective: To investigate the genetic polymorphism of human platelet antigen(HPA)1 through 5 and 15 systems in Uighurs,which are closely related to refractoriness to platelet transfusion therapy.To analyze the variance in different nationalities and determine their clinical significance for the purpose of establishing a typed platelet donor bank.Methods: PCR-SSP was used to HPA genotyping among 153 unrelated Uighur volunteer donors.Results: Gene frequencies for HPA-1a,2a,3a,4a,5a,and 15a were found to be 0.911 8,0.888 9,0.545 8,0.993 5 and 0.921 6,0.441 2,respectively.Gene frequencies for HPA-1b,2b,3b,4b,5b,15b were 0.088 2,0.111 1,0.454 2,0.006 5,0.078 4,0.558 8,respectively.Compared with Han Chinese,the HPA-1a,1b,3a,3b,5a and 5b gene frequencies of Uighurs had significant differences(P<0.05).Marked differences were also observed in the HPA-3a,3b and 5b gene frequencies between Tibets and Uighurs(P<0.05).Conclusion: Among the Uighur population,we have detected 12 alleles of the(HPA)1 through 5 and 15 systems.In different individuals,they are expressed either as homozygote or heterozygote.However,HPA-1b and 4b alleles are not detected in the population.These results suggest high polymorphism in the HPA 1~5 and 15 systems among Uighurs.Among them,HPA-3 and HPA-15 show a high polymorphism,increasing the incidence for immunological exposure.Compared with Han Chinese,the HPA-1a,1b,3a,3b,5a and 5b gene frequencies of Uighurs have significant differences.Marked differences were also observed in the HPA-3a,3b and 5b gene frequencies between Tibets and Uighurs.