title: HLA-DR2 haplotypic diversity in populations of South-East Asia, northern China, Melanesia and Australian aborigines using PCR-RFLP for DRB1, DRB5, DQA1 and DQB1. A novel DRB1 allele: DRB1*16022.
abstract: The polymorphism of the human leucocyte antigen HLA-DR2 and the heterogeneity of HLA-DR2 class II-related haplotypes (HLA-DRB1-DRB5-DQA1-DQB1) were investigated in four populations of east and south-east Asia (SEA) and five Melanesian populations using TaqI restriction fragment length polymorphism (RFLP) analysis, and the polymerase chain reaction (PCR) amplification-based techniques PCR-RFLP and sequence-specific oligonucleotide (SSO) typing. The haplotype DRB1*1502-DRB5*0101-DQA1*0102-DQB1*0601 was common in Malaysians, Javanese, Thursday Islanders, Madang, Goroka and the Australian Aborigines, while DRB1*16021-DRB5*0101-DQA1*0102-DQB1*0502 was common in the Thai and Thursday Islanders. DRB1*1501-DRB5*0101-DQA1*0102-DQB1*0602 was present at a high frequency in Northern Chinese, Goroka, Watut and Australian Aborigines. The study describes four rare or unusual haplotypes: HLA-DRB1*1501-DRB5*0101-DQA1*0101-DQB1*0601, DRB1*1502-DRB5*0101-DQA1*0101-DQB1*0502, DRB1*1502-DRB5*0102-DQA1* 0102-DQB1*0502 and DRB1*1501-DRB5*0101-DQA1*0101/2-DQB1*0503; the latter two were confirmed by segregation in two Javanese families. A new DR2 allele, initially detected by PCR-RFLP and confirmed by DNA sequencing as DRB1*16022 (previously designated DRB1*16Madang), was seen in a Madang individual. A new HLA-DR2 TaqI RFLP subtype, locally designated as DR15U, is also described. This RFLP subtype segregated in a Javanese family and correlated with a typically SEA haplotype, DRB1*1502-DRB5*0102-DQA1*0101-DQB1*0501. The allele HLA-DR16Thai, determined by TaqI DRB RFLP, was found by PCR-RFLP and SSO typing to correlate with a unique SEA haplotype, HLA-DRB1*16021-DRB5*0101-DQA1*0102-DQB1*0502, and was observed in the Thai, Malaysian, Thursday Islander, Javanese and Northern Chinese populations.
authors.affiliation: Molecular Genetics, Tissue Typing, Red Cross Blood Transfusion Service, Sydney, New South Wales, Australia.
authors.forename: J
authors.initials: J
authors.lastname: Trejaut
authors.forename: K
authors.initials: K
authors.lastname: Bhatia
authors.forename: W D
authors.initials: WD
authors.lastname: Greville
authors.forename: K R
authors.initials: KR
authors.lastname: Hu
authors.forename: G
authors.initials: G
authors.lastname: Duraisamy
authors.forename: C
authors.initials: C
authors.lastname: Nuchprayoon
authors.forename: J
authors.initials: J
authors.lastname: Donald
authors.forename: A
authors.initials: A
authors.lastname: Aziz
authors.forename: H
authors.initials: H
authors.lastname: Dunckley
mesh_terms: D000483:Alleles; D001210:Asia, Southeastern; D001315:Australia; D001483:Base Sequence; D002681:China; D004247:DNA; D014644:Genetic Variation; D006683:HLA-DQ Antigens / Q000145:classification* / Q000235:genetics; D059848:HLA-DQ alpha-Chains; D059866:HLA-DQ beta-Chains; D006684:HLA-DR Antigens / Q000145:classification* / Q000235:genetics; D015802:HLA-DR2 Antigen / Q000145:classification* / Q000235:genetics; D059811:HLA-DRB1 Chains; D059847:HLA-DRB5 Chains; D006239:Haplotypes; D006801:Humans; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction / Q000379:methods*; D012150:Polymorphism, Restriction Fragment Length; D011153:Population
chemical_list: D006683:HLA-DQ Antigens; D059848:HLA-DQ alpha-Chains; D059866:HLA-DQ beta-Chains; C069050:HLA-DQA1 antigen; C069051:HLA-DQB1 antigen; D006684:HLA-DR Antigens; D015802:HLA-DR2 Antigen; D059811:HLA-DRB1 Chains; D059847:HLA-DRB5 Chains; D004247:DNA