金华地区血小板献血者血小板基因的分型特点和基因库建设

Distribution of genotypes among blood platelet donors in Jinhua area

目的研究金华地区血小板献血者人类白细胞抗原(HLA)-A、B位点和人类血小板抗原(HPA)-1~6、10、15、21位点的多态性分布特点并统计基因频率,初步建立起金华地区血小板基因库。方法对2020年1月至2021年2月金华市中心血站109名单采血小板献血者标本的HLA-A、B和HPA-1~6、10、15、21位点进行基因分型,计算基因频率,并与不同国家和地区进行比较,分析基因分布的差异性。结果109名金华地区血小板献血者共检出HLA-A位点等位基因14个,基因频率较高的等位基因分别是A*02、A*11、A*24、A*33;检出HLA-B位点等位基因24个,基因频率从高到低分别是B*40、B*15、B*46、B*58、B*55、B*39、B*13。金华地区的A*02、A*11、B*40、B*15、B*46等位基因的分布频率与西安、云南、河南、辽宁、淄博、广东等地相比,差异均有统计学意义(均P<0.05)。HLA-A、B位点基因分型结果均符合Hardy-Weinberg平衡(均P>0.05)。HPA-4a、10a呈单特异性,杂合度最高的基因型是HPA-3和HPA-15,经Hardy-Weinberg遗传平衡检验,发现金华地区HPA-1~3、6、15、21的基因频率符合遗传平衡法则,基因具备恒定性。金华地区与英国、美国相比,HPA-1、HPA-2、HPA-5、HPA-15基因频率差异均有统计学意义(均P<0.05)。结论金华地区血小板基因库的建立有助于为血小板输注无效的患者提供HLA和HPA相对匹配的血小板制品,提高血小板输注效率。

Objective To study the polymorphism distribution characteristics of human leukocyte antigen(HLA)-A and B loci,as well as human platelet antigen(HPA)-1-6,10,15,and 21 loci among platelet donors in Jinhua area,and to statistically analyze gene frequencies,and to preliminarily establish a platelet gene bank in Jinhua area.Methods The distributions of HLA-A,B and HPA-1-6,10,15 and 21 loci were detected among 109 platelet donors in Jinhua Blood Center by using the real-time fluorescence PCR-based human platelet antigen HPA and HLA-A、B genotyping detection kit,and the blood genomic DNA column small volume extraction kit.The gene distribution variability was analyzed by comparing gene frequency with other regions.Results A total of 14 HLA-A alleles were detected,and the alleles with higher frequency were A*02,A*11,A*24,A*33;and 24 alleles at HLA-B locus were detected,and B*40 has highest gene frequency,followed by B*15,B*46,B*58,B*55,B*39 and B*13.The distribution frequencies of A*02 allele,A*11 allele,B*40 allele,B*15 allele,and B*46 allele in Jinhua area were significantly different from those in Xi'an,Yunnan,Henan,Liaoning,Zibo,Guangdong and other areas.The genotyping results of HLA-A and B loci were consistent with Hardy-Weinberg equilibrium(both P>0.05).HPA-4a and 10a are single-specific;HPA-3 and HPA-15 had the highest heterozygosity.Hardy-Weinberg genetic balance test showed that the gene frequencies of HPA-1-3,6,15 and 21 in Jinhua were consistent with the law of genetic balance,and the genes were stable.Compared with the United Kingdom and the United States,HPA-1,HPA-2,HPA-5 and HPA-15 in Jinhua had significant difference.Conclusion The genotyping study and establishment of platelet gene bank is conducive to provide platelet products with relatively matched HLA and HPA for patients who need platelet infusion.