Sequence-based typing confirmed a novel B*40 allele, B*4046, which was identified through sequence-specific oligonucleotide hybridization routine typing.
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.
Labor für Immungenetik, University Munich, Paul-Heyse-Strasse 33, 80336 Munich, Germany. klaus.witter@kk-i.med.uni-muenchen.de
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D000483:Alleles; D019943:Amino Acid Substitution / Q000235:genetics*; D001483:Base Sequence; D003062:Codon / Q000235:genetics*; D016172:DNA Fingerprinting; D005260:Female; D015235:HLA-B Antigens / Q000235:genetics*; D059947:HLA-B40 Antigen; D006801:Humans; D008969:Molecular Sequence Data; D009693:Nucleic Acid Hybridization; D015345:Oligonucleotide Probes; D044465:White People
D003062:Codon; D015235:HLA-B Antigens; C492825:HLA-B*40:46 antigen; D059947:HLA-B40 Antigen; D015345:Oligonucleotide Probes