Characterization of 236 novel alleles at the HLA‐A, ‐B, ‐C, ‐DRB1, ‐DQB1 and ‐DPB1 loci from China Marrow Donor Program

Abstract

Two hundred and thirty-six novel human leukocyte antigen (HLA) alleles are described from volunteer donors of the China Marrow Donor Program: 71 HLA-A alleles, 79 HLA-B alleles, 43 HLA-C, 16 HLA-DRB1 alleles, 26 HLA-DQB1 and 1 HLA-DPB1. Two hundred and thirteen (90.3%) of the 236 novel alleles are single nucleotide substitution variants when compared with their most homologous allele. Seventy-eight of these single nucleotide variants are silent substitutions. The remaining novel alleles differ from their most similar allele by two to four nucleotide substitutions. Some of the novel alleles encode amino acid changes at positions not previously reported to be polymorphic, such as codons 57, 62, 67, 41 and 52 in HLA-A alleles; codons 133, 156, 201 and 215 in HLA-B alleles; codons 74, 208 and 225 in HLA-C; codons 25, 32 and 72 in HLA-DRB1; codons 20, 39 and 77 in HLA-DQB1.

Genetic variants in STAT4 and HLA-DQ genes confer risk of hepatitis B virus–related hepatocellular carcinoma

“…The SBT method 44 (BGI HLA-DQB1 and DQA1 SBT kit) was used to assay the genotypes of the HLA-DQB1 and HLA-DQA1 genes at BGI, Shenzhen, China. HLA-DQB1 and HLA-DQA1 alleles were determined using the alignment database of dbMHC.…”

Rapid detection ofHLA-A*31:01allele in DNA and blood samples using loop-mediated isothermal amplification

“…Interestingly, the only false‐positive result when testing the clinical samples occurred in a patient heterozygous for HLA‐A*31:32 . This allele has only been reported once in China and has not been previously reported in the Hong Kong population (none out of 569 samples), nor is it included in a large worldwide HLA allele frequency database ( n = 91 108; http://www.allelefrequencies.net/). Alignment analysis demonstrates that HLA‐A*31:32 and HLA‐A*31:01 differ only by one nucleotide in exon 3 (G777T) of the HLA‐A gene, and our primers were designed to amplify a region in exon 2.…”

The genomic full‐length sequence of the HLA‐B*15:198 allele, identified by full‐length group‐specific sequencing

“…To date, a total of 7431 HLA‐B alleles have been identified according to the IPD‐IMGT/HLA Database Release 3.4.0 in 2020, of which 803 alleles are B*15 alleles 1 . The HLA‐B*15:198 allele was first published by another group and got the GenBank/ENA accession number HM122186 2 . But the sequence only covered the exons 1 through 5.…”