中国输血杂志2026，Vol.39Issue(6)：743-749,7.DOI:10.13303/j.cjbt.issn.1004-549x.2026.06.006
国内北方汉族人群HLA-A、-B、-C基因序列多态性与进化分析
Sequence polymorphism and evolutionary analysis of HLA-A,-B,and-C loci in the northern Han Chinese population
摘要
Abstract
Objective To characterize the sequence polymorphism of HLA-A,-B,and-C loci in the northern Han Chi-nese population and to evaluate their selection signals and phylogenetic patterns based on long-read sequencing data.Meth-ods A total of 408 unrelated healthy blood donors were enrolled.Long-read sequencing of HLA-A,-B,and-C loci was per-formed using the PacBio Sequel Ⅱ platform.The Ewens-Watterson neutrality test,sliding-window nucleotide diversity(π)and Tajima's D analyses were conducted,together with genetic distance heatmaps,principal coordinates analysis(PCoA),and maximum likelihood phylogenetic analysis to assess polymorphism distribution,selection signals,and phylogenetic structure across the three loci.Results The analyzed sequence lengths for the HLA-A,-B,and-C loci were 3 257 bp,3 794 bp,and 3 831 bp,respectively;the numbers of locus-specific sequence types were 44,82,and 56,with correspond-ing locus-specific sequence type diversities of 0.905 2,0.964 9,and 0.939 8,respectively.The Ewens-Watterson test showed no significant deviation from neutrality(P>0.05).Sliding-window analysis revealed elevated π and Tajima's D val-ues in exons 2 and 3 as well as in certain intronic regions of HLA-A and HLA-B,whereas HLA-C exhibited relatively lower o-verall diversity.Genetic distance heatmaps,PCoA,and phylogenetic analysis consistently showed clear clustering in HLA-A and HLA-C,while HLA-B displayed the highest phylogenetic heterogeneity.Conclusion HLA-A,-B,and-C gene se-quences in the northern Chinese Han population exhibit high levels of polymorphism and marked regional heterogeneity.HLA-B shows greater diversity,stronger signals of selection,and more complex phylogenetic structure compared with HLA-A and HLA-C.关键词
HLA-Ⅰ 类/长读长测序/位点内序列类型/核苷酸多样性/Tajima's D/Ewens-Watterson 检验Key words
HLA class Ⅰ/long-read sequencing/locus-specific sequence type/nucleotide diversity/Tajima's D/Ew-ens-Watterson test分类
医药卫生引用本文复制引用
宋文倩,余婉珍,白素宁,王丽颖,邵林楠,周世航,梁晓华..国内北方汉族人群HLA-A、-B、-C基因序列多态性与进化分析[J].中国输血杂志,2026,39(6):743-749,7.基金项目
大连市科技创新基金项目(2025JJ13PT055) （2025JJ13PT055）
