Abstract:Objective To analyze the HLA-A, -B, -C, -DRB1 and -DQB1 high-resolution alleles polymorphism and their distribution characteristics in 2,504 Han adults. Methods Totally, 2,504 Chinese Han hematopoietic stem cell donors in Yueyang region were genotyped by the Illumina Miseq next-generation sequencing method for their HLA-A, -C, -B, -DRB1 and -DQB1 genes, and then the allele frequencies, haplotype frequencies and the linkage disequilibrium parameters were computed by a PyPop software. Results For HLA class I genes, there were 55, 117 and 67 alleles observed in HLA-A, -B and -C locus respectively, of which the common alleles with frequencies greater than 0.05 were A*11:01:01:01, A*24:02:01:01, A*02:07:01, A*02:01:01:01, A*33:03:01, B*40:01:02, B*58:01:01, B*15:02:01, B*13:01:01, B*46:01:01, C*03:03:01, C*03:02:02:01, C*08:01:01, C*03:04:01:02, C*07:02:01:01 and C*01:02:01. For HLA class II genes, 50 DRB1 alleles and 26 DQB1 alleles were observed and the frequent alleles with frequencies greater than 0.05 included DRB1*11:01:01, DRB1*08:03:02, DRB1*12:02:01, DRB1*15:01, DRB1*09:01:02, DQB1*03:01:01, DQB1*03:02:01, DQB1*03:03:02, DQB1*05:02:01 and DQB1*06:01:01. The distribution of HLA-A, -B, -C, -DRB1 and -DQB1 alleles coincided with the Hardy-Weinberg test (P>0.05). Strong linkage disequilibrium was observed between in any two HLA genes, and there were 196 halotypes with frequency ≥ 0.01 and statistical significance. Conclusions The data of the HLA-A, -B -C, -DRB1 and -DQB1 allelic frequencies at high-resolution level in Yueyang Han population are obtained, which provide reference data for the studies in anthropology, transplantation matching and disease association.
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