title: Discovery of a novel HLA-B*51 variant, B*51:112, in a Taiwanese bone marrow donor and identification of the plausible HLA haplotype in association with B*51:112.
abstract: The sequence of B*51:112 is identical to the sequence of B*51:01:01 in exons 2, 3 and 4, except the nucleotides at positions 206 (C→A) and 213 (C→G). The nucleotide replacement caused one amino acid substitution at residue 45 (T→K). The plausible HLA-A, -B and -DRB1 haplotype in association with B*51:112 may be deduced as HLA-A*02-B*51:112-DRB1*12. The generation of B*51:112 was probably as the result of a DNA recombination event where B*40:01:01 acted as a sequence donor donating a segment of the DNA sequence to the recipient sequence B*51:01:01. The donor carrying B*51:112 was a Minna Taiwanese whose ancestor came to Taiwan from the southern region of China.
authors.affiliation: Laboratory of Immunogenetics and Cord Blood Bank, Buddhist Tzu Chi Stem Cells Centre and Marrow Donor Registry, Buddhist Tzu Chi General Hospital, Buddhist Compassion Relief Tzu Chi Foundation, Hualien, Taiwan. edward@tzuchi.com.tw
authors.forename: K L
authors.initials: KL
authors.lastname: Yang
authors.forename: S K
authors.initials: SK
authors.lastname: Lee
authors.forename: P Y
authors.initials: PY
authors.lastname: Lin
mesh_terms: D000483:Alleles; D019943:Amino Acid Substitution; D001483:Base Sequence; D001853:Bone Marrow / Q000378:metabolism*; D005091:Exons; D014644:Genetic Variation; D015235:HLA-B Antigens / Q000235:genetics* / Q000378:metabolism; D059811:HLA-DRB1 Chains / Q000235:genetics / Q000378:metabolism; D006239:Haplotypes; D006412:Hematopoietic Stem Cells / Q000166:cytology* / Q000378:metabolism; D006650:Histocompatibility Testing; D006801:Humans; D008969:Molecular Sequence Data; D011995:Recombination, Genetic; D017422:Sequence Analysis, DNA / Q000379:methods; D012689:Sequence Homology, Nucleic Acid; D013624:Taiwan; D014019:Tissue Donors
chemical_list: D015235:HLA-B Antigens; D059811:HLA-DRB1 Chains