Abstract
There are five polymorphic Alu insertion (POALIN) loci within the major histocompatibility complex (MHC) class I region that have been strongly associated with HLA class I alleles, such as HLA-A1, HLA-A2 and HLA-B57. In order to assess the variability and frequency of POALIN distribution within two common HLA-B haplotypes, we detected the presence of the MHC class I POALIN by PCR in a panel of 15 individuals with HLA-B57 and 47 homozygous individuals with 7.1 AH (HLA-B7, -Cw7, -A3) obtained from the Australian Bone Marrow Donor Registry, and also from four families (25 individuals) containing the HLA-B57 allele. Only two of the 47 HLA-B7 genotypes had a detectable POALIN, whereas all of the HLA-B57 genotypes had at least one or more POALINs present, confirming that certain MHC class I haplotypes are relatively POALIN-free and others are POALIN-enriched. Six distinct HLA-B57 haplotypes, based on differences at the HLA-A locus and three of five POALIN loci, were identified that appear to have evolved by different mechanisms, including either by shuffling different combinations of conserved alpha and beta blocks or by recombination events involving two or more previously generated HLA-B57 haplotypes.
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Acknowledgements
We thank Dr. Campbell Witt of Royal Perth Hospital for HLA data and samples of DNA from the 25 individuals of four families and the Australian Bone Marrow Donor Registry and Victorian Transplantation and Immunogenetic Service for the panel of HLA-B57 and HLA-B7 DNA samples and HLA data. Human research ethics committee approval for this study was provided by Murdoch University as reference number 2002/249 and by the Australian Bone Marrow Donor Registry (ABMDR) as reference number 04/2002
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Dunn, D.S., Tait, B.D. & Kulski, J.K. The distribution of polymorphic Alu insertions within the MHC class I HLA-B7 and HLA-B57 haplotypes. Immunogenetics 56, 765–768 (2005). https://doi.org/10.1007/s00251-004-0745-3
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DOI: https://doi.org/10.1007/s00251-004-0745-3