Literature DB >> 19691641

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.

P Moonsamy1, P Bonella, G Goodwin, L Dolan, H A Erlich.   

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.

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Year:  2009        PMID: 19691641      PMCID: PMC4574626          DOI: 10.1111/j.1399-0039.2009.01308.x

Source DB:  PubMed          Journal:  Tissue Antigens        ISSN: 0001-2815


  1 in total

1.  Nomenclature for factors of the HLA system, 2002.

Authors:  S G E Marsh; E D Albert; W F Bodmer; R E Bontrop; B Dupont; H A Erlich; D E Geraghty; J A Hansen; B Mach; W R Mayr; P Parham; E W Petersdorf; T Sasazuki; G M Th Schreuder; J L Strominger; A Svejgaard; P I Terasaki
Journal:  Tissue Antigens       Date:  2002-11
  1 in total
  1 in total

Review 1.  Nomenclature for factors of the HLA system, 2010.

Authors:  S G E Marsh; E D Albert; W F Bodmer; R E Bontrop; B Dupont; H A Erlich; M Fernández-Viña; D E Geraghty; R Holdsworth; C K Hurley; M Lau; K W Lee; B Mach; M Maiers; W R Mayr; C R Müller; P Parham; E W Petersdorf; T Sasazuki; J L Strominger; A Svejgaard; P I Terasaki; J M Tiercy; J Trowsdale
Journal:  Tissue Antigens       Date:  2010-04
  1 in total

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