A new DR7-DQ8 haplotype resulting from a recombination between the DQA1 and DQB1 loci in a leukemic patient of Caucasoid origin.

Research paper by Jean-Marie JM Tiercy, Jean J Villard

Indexed on: 29 Jun '04Published on: 29 Jun '04Published in: Immunogenetics


Meiotic recombinations within the HLA-DR/DQ subregion are seldomly observed. However the high number of unusual DRB1-DQB1 allelic combinations underline the importance of crossover in shaping the class II haplotypic diversity. We present here the first report of a DQA1-DQB1 recombination event in a leukemic patient as detected by complete class II molecular typing of the family, including analysis of the DQCAR microsatellite. The recombination that occurred on the maternal chromosomes led to the unusual DR7-DQ8 haplotype characterized by the DRB1*0701-DRB4*01030102N-DQA1*0201-DQB1*0302 alleles. Because the patient had no HLA-identical sibling donor, a search for an unrelated hematopoietic stem cell donor was initiated. Out of three potential donors, only one HLA-A/-B/-C/DRB1-compatible but DQB1-mismatched donor could be identified.