北方汉族人群血小板抗原1～6、15系统基因多态性分析

The polymorphism of HPA-1～6,15 in Northern Han population

目的 了解中国北方汉族人群HPA-1～6、15系统的基因多态性及分布差异。方法 采用Luminex结合序列特异性寡核苷酸探针（FLOW-SSO）方法对904名籍贯为北方汉族的深圳巿机采血小板无偿捐献者做HPA-1～6、15系统基因分型。采用聚合酶链反应-序列特异性引物（PCR-SSP）方法对有疑问的标本及罕见抗原（如HPA-1b/1b、2b/2b、4a/4b等）做进一步确认。结果 本组北方汉族人群来自河南、陕西、山东、黑龙江、吉林5个省,以HPA-3、15基因型的杂合度最高,杂合度约在50%左右,HPA-1、2、4、5、6以a/a纯合子为主（88%以上）,将北方这5个地区汉族人群的HPA基因频率和基因型频率两两比较,在HPA-2、5、6、15系统中存在显著性差异。吉林、陕西和山东汉族人群HPA-2a/2b基因型频率为0.027 8、0.115 9、0.110 3,同时HPA-2b基因频率为0.013 9、0.058 0、0.055 1;吉林和黑龙江汉族人群HPA-5a/5b基因型频率为0.0741、0.007 5,同时HPA-5b基因频率为0.037 0、0.003 8;山东、陕西和吉林汉族人群HPA-6a/6b基因型频率为0、0.029 0、0.037 0,同时HPA-6b基因频率为0、0.014 5,0.018 5;黑龙江、河南和吉林汉族人群HPA-15b/15b基因型频率为0.270 7、0.188 6、0.185 2,同时HPA-15b基因频率为0.530 1、0.4478、0.425 9（均为P〈0.05）,符合Hardy-Weinbery遗传定律。结论 中国北方汉族人群中HPA-1～6、15分布不论基因频率还是基因型频率都存在明显的地域性,地域性较南方汉族人群更为明显。

Objective To understand human-platelet antigens （HPA） -1～ 6,15 polymorphism and the distributional differences in the Northern Chinese Han population. Methods The genotypes of HPA-1 ～ 6,15 were typed by flow-sequence specific oligonucleotide probes （FLOW-SSO） for 904 Shenzhen unpaid apheresis platelet donors. Specimens in doubt and rare antigens （such as HPA-1b/1 b,2b/2b,4a/4b） were identified by PCR-sequence specific primer （PCR-SSP）. Results The Northern Han donors came from Henan, Shanxi, Shandong, Heilongjiang and Jilin. These five Northern provinces consisted of the highest numbers of heterozygotes ,HPA-3,15. The heterozygosity was approximately 50%. HPA-1,2,4,5 and 6 were known for predominantly a/a homozygosity and their genetic frequencies were more than 88%. The phenotypic and gene frequencies of these provinces were compared and were concluded to have a significant deviation from Hardy-Weinberg equilibrium within HPA-2,5,6 and 15. When comparing the phenotypic frequencies ,the X2 of HPA-2 of Jilin and Shanxi populations was 6; 62 ,while that of Jilin and Shandong populations was 6.00. The χ^2 of HPA-5 in Jilin and Heilongjiang populations was 7.41. The χ^2 of HPA-6 in Shandong and Shanxi populations was 4.00 ,while that in Shandong and Jilin populations was5.12. The χ^2 of HPA-15 in Heilongjiang and Henan populations was 5.23, while that in Heilongjiang and Jilin populations was 5.42. When comparing their gene frequencies, the χ^2 of HPA-2 in Jilin and Shanxi populations was 6.34 ,while that in Jilin and Shandong populations was 5.77. The χ^2 of HPA-5 in Jilin and Heilongjiang populations was 7.20. The χ^2 of HPA-6 in Shandong and Shanxi populations was 3.97 ,while that in Shandong and Jilin populations was 5.08. The χ^2 of HPA-15 in Heilongjiang and Henan populations was 4. 99, while that in Heilongjiang and Jilin populations was 5.18 （P 〈 0. 01 ）. Each group presented a good fit to Hardy-Weinberg equilibrium. Conelusion For HPA-1 ～ 6,15 ,the distribution of phenotypic and gene frequency in Chinese Northern Han population has certainly demonstrated regional difference. The regional difference of the Northern province was more notable than that of the Southern province.