Sequence-based typing confirmed a novel B*40 allele, B*4046, which was identified through sequence-specific oligonucleotide hybridization routine typing.

摘要

In this paper, we report the identification of a new human leucocyte antigen-B (HLA-B) allele in a sample which has participated in a search for unrelated bone marrow donors which was initiated by the Aktion Knochenmarkspende Bayern. This novel allele officially designed B*4046 was detected by different low-resolution sequence-specific oligonucleotide typings not matching to known allele combinations in a female Caucasoid individual. Confirming the presence of a novel allele by sequence-based typing, the closest-related allele B*400103 differs from the new B*4046 allele by three mutations. This results in an amino acid substitution from threonine to alanine in B*4046 at codon 65, while codon 68 remains conserved and codon 69 "AAG" lysine is replaced by "GAG" glutamic acid in B*4046.