title: Recombinations defining centromeric and telomeric borders for the hereditary haemochromatosis locus.
abstract: Hereditary haemochromatosis (HFE) is a common inherited disorder, affecting approximately five per thousand white people of northern European descent. Genetic linkage and linkage disequilibrium studies indicate that the disease locus is tightly linked to HLA-A and D6S105. Recombination between HFE and HLA class I loci is known to be rare. We report here two pedigrees in which recombinations telomeric of HLA-A occurred. These recombinant events define new centromeric and telomeric borders for the HFE locus.
authors.affiliation: Division of Hematology/Oncology, University of Utah Health Sciences Center, Salt Lake City 84132, USA.
authors.forename: R S
authors.initials: RS
authors.lastname: Ajioka
authors.forename: P
authors.initials: P
authors.lastname: Yu
authors.forename: J R
authors.initials: JR
authors.lastname: Gruen
authors.forename: C Q
authors.initials: CQ
authors.lastname: Edwards
authors.forename: L M
authors.initials: LM
authors.lastname: Griffen
authors.forename: J P
authors.initials: JP
authors.lastname: Kushner
mesh_terms: D000293:Adolescent; D000328:Adult; D002503:Centromere / Q000235:genetics*; D002648:Child; D002874:Chromosome Mapping; D002877:Chromosomes, Human; D004247:DNA / Q000032:analysis / Q000302:isolation & purification; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006680:HLA Antigens / Q000235:genetics; D006239:Haplotypes; D006432:Hemochromatosis / Q000235:genetics*; D006801:Humans; D007501:Iron / Q000097:blood; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011995:Recombination, Genetic; D016615:Telomere / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D006680:HLA Antigens; D004247:DNA; D007501:Iron