title: Elucidation of exon 1, 4, and 5 sequences of 39 infrequent HLA-B alleles.
abstract: More than 590 human leukocyte antigen (HLA)-B alleles have been identified by sequence analysis. Although the polymorphic exon 2 and 3 sequences of all HLA-B alleles are described, the sequences of the other exons of a number of infrequent B-alleles are unknown. In this study, the exon 1, 4, and 5 sequences of 39 different HLA-B alleles were elucidated by allele-specific sequencing. Overall, these exon sequences showed identity with the majority of the known sequences from the corresponding allele groups, except for four alleles B*4010, B*4415, B*4416, and B*5606. The exon 1 sequence of B*4010 had nucleotide differences with all B*40 alleles, but was identical to the B*54, *55, *56, and *59 allele groups. B*4416 differed from B*440201 at position 988, which was previously considered a conserved position. B*4415 showed exon 1, 4, and 5 sequences deviating from the other B*44 alleles, but identical to B*4501. The exon 1 and 4 sequences of B*5606 differed from other B*56 alleles, but were in complete agreement with B*7801. The deviating exon sequences of B*4415 and B*5606 confirmed the evolutionary origin of these alleles suggested by the sequences of exons 2 and 3. The polymorphism observed in exons 1, 4, and 5 merely reflects the lineage-specificity of HLA-B.
authors.affiliation: Tissue Typing Laboratory, University Hospital Maastricht, Maastricht, The Netherlands.
authors.forename: Wendy T N
authors.initials: WT
authors.lastname: Swelsen
authors.forename: Christina E M
authors.initials: CE
authors.lastname: Voorter
authors.forename: Kang Yuen
authors.initials: KY
authors.lastname: Chak
authors.forename: Ella M
authors.initials: EM
authors.lastname: van den Berg-Loonen
mesh_terms: D000483:Alleles; D001483:Base Sequence; D005091:Exons / Q000235:genetics*; D005785:Gene Conversion / Q000235:genetics / Q000276:immunology; D015235:HLA-B Antigens / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D017354:Point Mutation / Q000235:genetics / Q000276:immunology; D016415:Sequence Alignment; D012689:Sequence Homology, Nucleic Acid
chemical_list: D015235:HLA-B Antigens