title: Discovery of HLA-DRB1*03:20 allele in a Taiwanese volunteer hematopoietic stem cell donor and the probable HLA-A, -B, -C and -DRB1 haplotype in association with DRB1*03:20.
abstract: The allele HLA-DRB1*03:20, a variant of DRB1*03, was first reported to the IMGT HLA database in April 2001 without indication on the ethnicity of the blood donor (Cell ID: HC 125775). We found a Taiwanese volunteer hematopoietic stem cell donor carries DRB1*03:20 by a sequence-based typing (SBT) method. The DNA sequence of DRB1*03:20 is identical to the sequence of DRB1*03:01:01 in exon 2, except a nucleotide substitution at position 341(T→C) (GTT→GCT at codon 85). The nucleotide replacement produced an amino acid variation at residue 85 (V→A). We hypothesize that DRB1*03:20 was probably derived from DRB1*03:01:01 via a nucleotide point mutation event. The probable HLA haplotype in association with DRB1*03:20 was deduced as A*11:02-B*58:01-C*07:02-DRB1*03:20. We here report the Taiwanese/Chinese ethnicity of DRB1*03:20.
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: S Y
authors.initials: SY
authors.lastname: Yang
authors.forename: R H
authors.initials: RH
authors.lastname: Kao
authors.forename: C L
authors.initials: CL
authors.lastname: Lin
authors.forename: P Y
authors.initials: PY
authors.lastname: Lin
mesh_terms: D000483:Alleles; D019943:Amino Acid Substitution; D044466:Asian People / Q000235:genetics; D014644:Genetic Variation; D006680:HLA Antigens / Q000235:genetics*; D015234:HLA-A Antigens / Q000235:genetics; D015235:HLA-B Antigens / Q000235:genetics; D015236:HLA-C Antigens / Q000235:genetics; D059811:HLA-DRB1 Chains / Q000235:genetics*; D006239:Haplotypes; D006412:Hematopoietic Stem Cells / Q000378:metabolism*; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D013624:Taiwan; D014019:Tissue Donors
chemical_list: D006680:HLA Antigens; D015234:HLA-A Antigens; D015235:HLA-B Antigens; D015236:HLA-C Antigens; D059811:HLA-DRB1 Chains