First Report of Recombination Between the HLA-DR and HLA-DQ Loci Within a Family

Although unusual associations of HLA-DR and HLA-DQ alleles seen in ancestral haplotypes have indicated that recombination between these genes occurred in the past, an actual crossover event between DR and DQ has never been shown within a family. In a study of families with Graves’ disease we have id...

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Bibliographic Details
Published in:	Human immunology Vol. 57; no. 1; pp. 37 - 43
Main Authors:	Sullivan, Karen A., Wolfe, Margaret A., Lopez, Manuel, Jaspan, Jonathan B., Bryer-Ash, Michael
Format:	Journal Article
Language:	English
Published:	United States Elsevier Inc 15-09-1997
Subjects:	Adult Crossing Over, Genetic Female Genes, MHC Class I - genetics Genes, MHC Class II - genetics Genetic Linkage Graves Disease - genetics HLA-DQ Antigens - genetics HLA-DR Antigens - genetics Humans Infant Male Middle Aged Pedigree Polymerase Chain Reaction SSP NBT FI SSOP BCIP MHC TAE EDTA PCR
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Summary:	Although unusual associations of HLA-DR and HLA-DQ alleles seen in ancestral haplotypes have indicated that recombination between these genes occurred in the past, an actual crossover event between DR and DQ has never been shown within a family. In a study of families with Graves’ disease we have identified an individual from a three generation family who inherited a maternal haplotype that is the result of a recombinational event between the HLA-DR and the HLA-DQ loci on her chromosomes. Family members were typed for HLA class I by the lymphocyte microcytotoxicity test and for HLA class II by polymerase chain reaction (PCR) with sequence-specific primers or with sequence-specific oligonucleotide probes after PCR. Based on linkage disequilibrium it is likely that the recombinant haplotype is present in the proband rather than his brother. This haplotype was subsequently inherited by one of the proband’s sons. The data presented support the conclusion that the recombinant haplotype resulted from a crossover event between the mother’s DRB1 and DQA1 genes. Thus, recombination between the HLA-DR and HLA-DQ genes has been demonstrated within this family; a recombination event not previously described.
Bibliography:	ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-1 content type line 23 ObjectType-Article-1 ObjectType-Feature-2
ISSN:	0198-8859 1879-1166
DOI:	10.1016/S0198-8859(97)00178-X