Sixty-five novel alleles at the HLA-A, -B, and -DRB1 loci identified from National Marrow Donor Program volunteer donors.

ABSTRACT

Sixty-five novel human leukocyte antigen (HLA) alleles are described from volunteer donors of the 'Be The Match Registry' 29 HLA-A alleles, 24 HLA-B alleles, and 12 HLA-DRB1 alleles. Eight (∼12%) of the novel alleles were found in more than one individual and may be more common in the population. Forty (∼62%) of the 65 novel alleles are single nucleotide substitution variants when compared with their most homologous allele. Two of these single nucleotide variants are silent substitutions and one creates a null allele. The remaining novel alleles differ from their most similar allele by 2-10 nucleotide substitutions. Some of the novel alleles encode amino acid changes at codons not previously reported to be polymorphic, such as codons 23, 93, 129, and 155 in HLA-A alleles and codon 3 in HLA-B alleles.