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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 |
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| Authors: | P Moonsamy P Bonella G Goodwin L Dolan H A Erlich for the TDGC |
| Institution: | Human Genetics, Roche Molecular Systems Inc., Pleasanton, CA, USA; Human Genetics, Children's Hospital Oakland Research Institute, Oakland, CA, USA; Immunology and Immunogenetics, Joslin Diabetes Center, Harvard, MA, USA; Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA |
| 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. |
| Keywords: | HLA-DPB1 SSOP linear array assay Mendelian inheritance recombination event |