title: The identification of a new HLA-DPB1 allele (*1302) in one family and the detection of a recombination event between the DR and the DQ regions in another Caucasian T1DGC family.
abstract: The analysis of families collected by the T1DGC and typed at high resolution for the HLA class I and class II loci provided an opportunity for identifying new alleles and rare recombination events. In one American Caucasian family, a novel allele (HLA-DPB1*1302), detected as an unusual pattern of probe binding, was identified in the mother and in one child. Amplicons from both individuals were sequenced and a new variant of DPB1*1301 with an A->T mutation [TAC to TTC in codon 64, (amino acid 35); Y to F] was confirmed. In another American Caucasian family, one child inherited an unusual haplotype, DRB1*1501-DQA1*0102-DQB1*0609-DPA1*0103-DPB1*0601 resulting from a recombination between the DRB1 loci on the maternal chromosomes DRB1*1501-DQA1*0102-DQB1*0602-DPA1*0103-DPB1*0401 and DRB1*1302-DQA1*0102-DQB1*0609-DPA1*0103-DPB1*0601.
authors.affiliation: Human Genetics, Roche Molecular Systems Inc., Pleasanton, CA 94588, USA. priscilla.moonsamy@roche.com
authors.forename: P
authors.initials: P
authors.lastname: Moonsamy
authors.forename: P
authors.initials: P
authors.lastname: Bonella
authors.forename: G
authors.initials: G
authors.lastname: Goodwin
authors.forename: L
authors.initials: L
authors.lastname: Dolan
authors.forename: H A
authors.initials: HA
authors.lastname: Erlich
mesh_terms: D000483:Alleles; D001483:Base Sequence; D002648:Child; D002874:Chromosome Mapping; D003062:Codon; D016384:Consensus Sequence; D017931:DNA Primers / Q000235:genetics; D015342:DNA Probes / Q000378:metabolism; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics; D005091:Exons; D005787:Gene Frequency; D014644:Genetic Variation; D005838:Genotype; D006682:HLA-DP Antigens / Q000235:genetics*; D059868:HLA-DP beta-Chains; D006239:Haplotypes; D000949:Histocompatibility Antigens Class II / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009035:Mothers; D009679:Nuclear Family; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011995:Recombination, Genetic; D017422:Sequence Analysis, DNA / Q000379:methods; D012689:Sequence Homology, Nucleic Acid; D009626:Terminology as Topic; D014481:United States; D044465:White People / Q000235:genetics
chemical_list: D003062:Codon; D017931:DNA Primers; D015342:DNA Probes; D006682:HLA-DP Antigens; D059868:HLA-DP beta-Chains; C071170:HLA-DPB1 antigen; D000949:Histocompatibility Antigens Class II
references.citation: Tissue Antigens. 2002 Nov;60(5):407-64
references.pmid: 12492818