PubMed ID:
19691641
Public Release Type:
Journal
Publication Year: 2009
Affiliation: Human Genetics, Roche Molecular Systems Inc., Pleasanton, CA 94588, USA. priscilla.moonsamy@roche.com
DOI:
https://doi.org/10.1111/j.1399-0039.2009.01308.x
Authors:
Bonella P,
Dolan L,
Erlich HA,
Goodwin G,
Moonsamy P,
T1DGC
Studies:
Type 1 Diabetes Genetics Consortium
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.