title: A rare ancestral HLA-DRB1(∗)15:01̃DQB1(∗)02:01 haplotype and its reversion in the same Western European family.
abstract: The HLA-DR and -DQ loci are close neighbors on chromosome 6 that are highly linked. Many common associations between HLA-DR and DQ-alleles are known, normally transmitted as HLA-DR̃DQ haplotypes from one generation to another. Reports of very recent genetic rearrangements between HLA-DR and -DQ are rarely found in the literature. In Europeans haplotypes containing DRB1(∗)15:01, DQB1(∗)02:01, and DQA1(∗)05:01 have not been reported before. We report the finding of the rare HLA haplotype A(∗)24:02̃C(∗)07:02̃B(∗)07:02̃MICA(∗)008:01̃DRB5(∗)01:01̃DRB1(∗)15:01̃DQA1(∗)05:01̃DQB1(∗)02:01̃DPB1(∗)04:01 in a German stem cell donor with East Frisian ancestry. Our observation suggests a rare ancestral recombination between the DR and DQ loci. In order to investigate this haplotype, we typed 50/74 members of the family encompassing four generations for HLA classes I and II by serological and molecular methods. The rare haplotype was identified in 12 heterozygous carriers. Furthermore, we identified and further characterized a putative crossing over event resulting in its reversion to a common haplotype.
authors: Diagnostic Center, Institute of Transfusion Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Electronic address: binder@uke.uni-hamburg.de.
authors: Thomas M C
authors: TM
authors: Binder
authors: Institute of Transfusion Medicine and Transplantation Immunology, University Clinics of Muenster, Muenster, Germany.
authors: Reinhard
authors: R
authors: Kelsch
authors: Diagnostic Center, Institute of Transfusion Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany; Department of Anesthesiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
authors: Julia M
authors: JM
authors: Wikner
authors: Diagnostic Center, Institute of Transfusion Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany; Department of Neurology, Klinikum Rechts der Isar, Munich, Germany.
authors: Lilian
authors: L
authors: Aly
authors: Department of Hematology, Oncology and Immunology, Philipps University Marburg and Universitätsklinikum Giessen und Marburg, Germany.
authors: Cornelia
authors: C
authors: Brendel
authors: Diagnostic Center, Institute of Transfusion Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
authors: Ina
authors: I
authors: Alster
authors: Diagnostic Center, Institute of Transfusion Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
authors: Peter
authors: P
authors: Kühnl
authors: MVZ Dr. Eberhard und Partner, Dortmund, Germany.
authors: Ulrich
authors: U
authors: Finckh
authors: Diagnostic Center, Institute of Transfusion Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
authors: Thomas H
authors: TH
authors: Eiermann
mesh_terms: D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D003434:Crossing Over, Genetic / Q000235:genetics; D005190:Family; D005787:Gene Frequency; D005858:Germany; D059866:HLA-DQ beta-Chains / Q000235:genetics*; D059811:HLA-DRB1 Chains / Q000235:genetics*; D006239:Haplotypes; D006650:Histocompatibility Testing; D006801:Humans; D015810:Linkage Disequilibrium; D010375:Pedigree
chemical_list: D059866:HLA-DQ beta-Chains; C069051:HLA-DQB1 antigen; D059811:HLA-DRB1 Chains; C489631:HLA-DRB1*15:01 antigen
keywords: HLA; HLA-DR̃DQ haplotypes; Linkage; MHC; Recombination