title: Routine HLA-B genotyping with PCR-sequence-specific oligonucleotides detects a B*52 variant (B*5206).
abstract: A new human leukocyte antigen (HLA)-B allele was found during routine typing of samples for a German unrelated bone marrow donor registry, the "Aktion Knochenmarkspende Bayern". After first interpretation of data of two independent low-resolution sequence-specific oligonucleotide typing tests, a B*51 variant was suggested. Further analysis via sequence-based typing identified the sequence as new B*52 allele. This new allele officially assigned as B*5206 differs from HLA-B*520102 by one nucleotide exchange in exon 2. The mutation is located at nucleotide position 274, at which a cytosine is substituted by a thymine leading to an amino acid change at protein position 67 from serine (TCC) to phenylalanine (TTC).
authors.affiliation: Laboratory for Medical Genetics Dr Klein, Lochhamer Strasse 29, 82152 Martinsried, Munich, Germany.
authors.forename: K
authors.initials: K
authors.lastname: Hoelsch
authors.forename: I
authors.initials: I
authors.lastname: Lenggeler
authors.forename: W
authors.initials: W
authors.lastname: Pfannes
authors.forename: H
authors.initials: H
authors.lastname: Knabe
authors.forename: H-G
authors.initials: HG
authors.lastname: Klein
authors.forename: A
authors.initials: A
authors.lastname: Woelpl
mesh_terms: D000483:Alleles; D019943:Amino Acid Substitution; D001483:Base Sequence; D005805:Genes, MHC Class I; D005838:Genotype; D005858:Germany; D015235:HLA-B Antigens / Q000737:chemistry / Q000235:genetics* / Q000302:isolation & purification; D059950:HLA-B52 Antigen; D006801:Humans; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction / Q000379:methods; D020641:Polymorphism, Single Nucleotide; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA; D012689:Sequence Homology, Nucleic Acid
chemical_list: D015235:HLA-B Antigens; C503734:HLA-B*52:06 antigen; D059950:HLA-B52 Antigen