山东汉族人群HPA1～16和HLA-A、B的群体遗传学研究

Analysis of tiPA1-16 and HLA-A, B gene polymorphisms among ethnic Han population from Shandong

目的了解山东汉族人类血小板抗原（human platelet antigen，HPA）1～16、人类白细胞抗原（human leukocyte antigen，HLA）A、B位点的多态性分布。方法对山东地区588位无血缘关系的汉族血小板自愿捐献者采用PCR序列特异性引物（PCR—sequence specific primer，PCR—SSP）方法进行HPA1—16系统的基因分型，并采用PCR-序列特异性寡核苷酸探针（PCR-sequence specific oligonucleotide probe，PCR—SSOP）技术对HLA-A、B位点进行中分辨基因分型，再由软件指定其血清型。结果HPA各等位基因频率分别是1a：0．9974，1b：0．0026，2a：0．9456，2b：0．0544，3a：0．5417，3b：0．4583，4a：0．9983，4b：0．0017，5a：0．9889，5b：0．0111，6a：0．9903，6b：0．0097，7～14a：1，7～14b：0，15a：0．5434，15b：0．4583，16a：1，16b：0；频率最高的HPA基因组合型为：HPA-（1，4，7～14，16，17）aa-2aa-3ab-5aa-6aa-15ab（O．1820）；HLA_A、B位点中频率最高的抗原分别为A2（0．3070）、B13（0．1361）。结论山东汉族人群HPA和HLA分布具有明显多态性，与其他同类资料相比显示出地域和种族性差异，应建立本地区的血小板捐献者HPA和HLA分型资料库。

Objective To study the polymorphisms oS human platelet antigen （HPA） 1-16 and human leukocyte antigen （HLA）-A and -B loci among ethnic Han population from Shandong. Methods A total of 588 samples from platelet donors were genotyped for the above loci with sequence-specific primer PCR and sequence-specific oligonucleotide probe PCR. Results The frequencies of HPA-1a, -1b, HPA-2a, -2b, HPA-3a,-3b, HPA-4a, -4b, HPA-Sa, -5b, HPA-6a,-6b, HPA-15a, -15b were 0. 9974, 0. 0026, 0.9456, 0.0544, 0. 5417, 0. 4583, 0. 9983, 0. 0017, 0. 9889, 0. 0111, 0. 9903, 0. 0097, 0. 5434 and 0. 4583, respectively. The HPA-7-14 and HPA-16 showed no heterozygosity as the b allele was not detected in such loci. The most common genotypic combination for HPA was HPA-（1,4,7-14,16,17） aa- 2aa-3ab-Saa-6aa-15ab （0. 1820）. HLA-A2 （0. 3070） and HLA-B13 （0. 1361） demonstrated the highest frequencies at their respective loci. Conclusion The HPA and HLA loci are highly polymorphic among ethnic Hans from Shandong. The distribution of HPA polymorphisms also shows a great ethnic and territorial difference. It is important to construct regional database for the genotypes of HPA and HLA loci for platelet donors.