南京地区血小板固定捐献者HLA和HPA基因资料库的建立及库容评估分析  

Establishment of HLA and HPA Gene Database of Regular Platelet Donors in Nanjing Area

作　　者：张钰 叶盛[1] 芮雪 蔡杰[1] 傅强[1] 何成涛[1] ZHANG Yu;YE Sheng;RUI Xue(Nanjing Red Cross Blood Center,Nanjing 210003)

机构地区：[1]南京红十字血液中心,江苏南京210003

出　　处：《临床输血与检验》2023年第1期127-132,共6页Journal of Clinical Transfusion and Laboratory Medicine

基　　金：2020年度南京市医学科技发展项目(No.YKK20148);2021年度南京市医学重点科技发展项目(No.ZKX21052);2022年度江苏省输血协会英科新创科研基金项目(No.JS2022010)资助。

摘　　要：目的探讨南京地区血小板固定捐献者HLA-A、-B和HPA-1~6w、10w、15、21w基因多态性分布特点并进行血小板固定捐献者基因资料库库容评估分析。方法采用荧光定量PCR法对南京地区1059例血小板固定捐献者血液样本进行HLA-A、-B位点和HPA-1~6w、10w、15、21w基因分型,计算等位基因频率、HLA单体型频率、HPA组合型频率,并以此为数据基础,评估库容水平。结果1059例血小板固定捐献者中共检出HLA-A位点等位基因15个,频率较高的有A*02、A*11、A*24、A*33、A*30;检出HLA-B位点等位基因29个,频率较高的有B*15、B*40、B*13、B*46、B*51、B*58;观察到HLA-A-B单体型共269种,频率>0.01的有22种,其中频率最高的为A*02-B*15和A*30-B*13。HPA-1~6w、10w、15、21w中HPA-1,2,4,5,6w,21w系统以aa基因型为主,HPA-1,4,5,6w,21w均未检出bb纯合子;其中HPA-3和HPA-15具有高杂合度;共检出59种HPA组合,其中频率最高的组合为1aa-2aa-3ab-4aa-5aa-6aa-10aa-15ab-21aa。在本地区所建立的1059人的基因资料库中,约88.97%的患者能在本库中找到≥1名HLA-A,-B抗原匹配供者。经计算推导得到当血小板供者数为213人时,95%的患者可以找到至少1名HPA-1~6w、10w、15、21w相合的供者。结论南京地区血小板固定捐献者HLA和HPA基因型分布具有本地区独特的多态性,本研究所建立的1059人的基因资料库基本可以满足本地区血小板输注无效患者寻找HLA和HPA相合供者的需求。Objective To investigate the distribution characteristics of HLA-A and-B loci and HPA-1~6w,10w,15,and 21w polymorphisms in regular platelet donors in Nanjing area,and to evaluate the minimum capacity of the regular platelet donor gene database.Methods Fluorescence quantitative PCR was used to genotype for HLA A,-B loci and HPA-1~6w,10w,15,21w genes in blood samples of 1059 platelet regular donors in Nanjing area,and the allele frequency,HLA haplotype frequency and HPA combination frequency were calculated,and based on these data,the storage capacity level was evaluated.Results Among the 1059 regular platelet donors,a total of 15 alleles in HLA-A loci were detected,of which A*02,A*11,A*24,A*33,A*30 had higher frequencies;29 alleles in HLA-B loci were detected,of which B*15,B*40,B*13,B*46,B*51,B*58 had higher allele frequencies;269 HLA-A-B haplotypes were found,and 22 had frequencies>0.01,of which A*02-B*15 and A*30-B*13 were the top two highest frequencies.Among the HPA-1~6w,10w,15,and 21w,the HPA-1,2,4,5,6w,and 21w were dominated by aa genotypes,and bb was not detected in HPA-1,4,5,6w,and 21 w;HPA-3 and HPA-15 have high heterozygosity;a total of 59 HPA combinations were detected,and the highest one was 1aa-2aa-3ab-4aa-5aa-6aa-10aa-15ab-21aa.In the genetic database of 1059 donors established in this region,88.97%of the patients could search≥1 HLA-A,B matched donor in this database.It was deduced by calculation that when the number of platelet donors was 213,95%of the patients could search at least one HPA-1~6w,10w,15,21w compatible donor.Conclusion The distribution of HLA and HPA genotypes of platelet regular donors in Nanjing area has unique polymorphism in this region.The gene database of 1059individuals established in this study can basically meet the need of seeking HLA and HPA compatible donors for patients with ineffective platelet transfusion in this region.

关 键 词：血小板 HLA HPA 基因多态性 库容评估 

分 类 号：R457[医药卫生—治疗学]