Abstract
We have recently identified two unrelated kindreds in which DR1 and DR2 co-segregate as a single haplotype spanning several generations. Serology, PCR-RFLP and sequence-specific oligonucleotide probes were used to characterize the presence and segregation of the DRB1 and DRB5 loci in these two kindreds. In both families, the recombination resulted in co-expression of a DRB1 locus that encoded a DR1 serologic phenotype and a DRB5 locus that encoded a 'short' DR2 serologic phenotype. One of these kindreds co-expressed the DR1 and DR15 (DRB5(*)01). The other kindred co-expressed the DR1 and DR16 (DRB5(*)02). Our data indicate that the recombination event occurred in the region between the DRB1 locus and the DRB5 locus. This recombinant haplotype produces a DR2 phenotype which lacks the epitopes normally encoded by the DRB1 locus, resulting in a serologic 'short' antigen. The clinical significance of such a recombinational event becomes evident when patients with such a genotype require allogeneic bone marrow transplantation.
Original language | English (US) |
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Pages (from-to) | 148-154 |
Number of pages | 7 |
Journal | Tissue Antigens |
Volume | 41 |
Issue number | 3 |
DOIs | |
State | Published - Mar 1993 |
All Science Journal Classification (ASJC) codes
- Immunology and Allergy
- Immunology
- Biochemistry
- Genetics