title: Point mutation in the beta sheet of the HLA-C alpha2 domain generates a novel HLA-C allele, HLA-Cw*08012, in a Puyuma Aboriginal individual in Taiwan.
abstract: We report herein the identification of a new HLA-C allele using sequence-based typing (SBT). This novel allele, HLA-Cw*08012, was found in an Aboriginal individual from the Puyuma tribe in the southern part of Taiwan. This individual was typed by the SBT method as having an HLA genotype of HLA-A*2402/2402, HLA-B*1502/4801, HLA-Cw*08011/08012, HLA-DRB1*15011/08032, HLA-DRB5*01011, and DPB1*0501/1401. This new allele differs from HLA-Cw*08011 in one of the nucleotides of the polymorphic exon 3 at codon 99 [TAT-->TAC; both code for tyrosine]. This residue is located in the beta sheet of the HLA-C alpha2 domain. This new allele was detected in a few individuals of the Puyuma tribe in Taiwan, but has not yet been observed in other populations in Taiwan.
authors.affiliation: Tzu Chi University, Hualien, Taiwan. shaokee@mail.tcu.edu.tw
authors.forename: S
authors.initials: S
authors.lastname: Wu
authors.forename: C-Y
authors.initials: CY
authors.lastname: Lai
authors.forename: F-C
authors.initials: FC
authors.lastname: Chou
authors.forename: S-M
authors.initials: SM
authors.lastname: Lai
authors.forename: S-P
authors.initials: SP
authors.lastname: Chen
authors.forename: Y-M
authors.initials: YM
authors.lastname: Shiao
mesh_terms: D000483:Alleles; D001483:Base Sequence; D005091:Exons; D015236:HLA-C Antigens / Q000737:chemistry / Q000235:genetics*; D006650:Histocompatibility Testing; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D017433:Protein Structure, Secondary; D017434:Protein Structure, Tertiary; D044469:Racial Groups; D013624:Taiwan / Q000208:ethnology
chemical_list: D015236:HLA-C Antigens