Identification of 400 novel alleles at the HLA ‐A, ‐B, ‐C, ‐ DRB1 , ‐ DQB1 loci from China Marrow Donor Program

Four hundred novel human leukocyte antigen ( HLA ) alleles were identified in Chinese individuals: 100 HLA ‐A alleles, 100 HLA ‐B alleles, 101 HLA ‐C alleles, 28 HLA‐DRB1 alleles and 71 HLA‐DQB1 alleles. Comparing novel alleles with their most homologous allele, we found 72.73% non‐synonymous nucleotide substitutions, 21.13% silent mutations, 3.90% nonsense mutations and 3.25% frameshift mutation. 352 (88%) of the 400 novel alleles are single nucleotide substitution variants when compared with their most homologous alleles and other novel alleles differ from their most similar allele by more than 1 nucleotide substitutions, such as 2, 3, 5, 6, 8 and so on. Some of the novel alleles are characterized by long deletions or insertions, for example there is 23 bp deletion in the B*58:31N allele when compared to its most homologous allele B*58:01:01:01 .