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

作　　者：周丹[1] 张印则[1] 李大成[1] 

机构地区：[1]深圳巿血液中心,广东深圳518035

出　　处：《中国输血杂志》2014年第10期1009-1013,共5页Chinese Journal of Blood Transfusion

基　　金：深圳市科技局科研基金项目(201003200)

摘　　要：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 phenotypi

关 键 词：中国北方汉族 无偿献血者 人类血小板抗原 基因频率 基因型频率 地域性 

分 类 号：R457.11[医药卫生—治疗学]