title: A 6p22 reference map of leukocyte DNA: exclusion of rearrangement in four cases of atypical haemochromatosis.
abstract: We describe a 4 Mb reference map of the haemochromatosis gene region in leukocyte DNA from seven controls and four atypical haemochromatosis patients. Three patients had normal coding sequence for HFE, the candidate gene for genetic haemochromatosis (GH). The fourth patient had classical GH but was heterozygous for Cys282Tyr with otherwise normal coding sequence. The genomic DNA was mapped by pulsed-field gel electrophoresis (PFGE) using five rare-cutting enzymes. Seventeen probes including HFE were positioned on the map. Despite proximity to the highly polymorphic major histocompatibility complex (MHC), no polymorphism was observed in the control group with these telomeric probes. Furthermore, major rearrangement of the HFE region was excluded as a mutation contributing to iron overload in these atypical patients. Maps of cloned DNA are linked through genes and other probes to this reference map of the HFE region in uncloned genomic DNA.
authors.affiliation: Joint Department of Medicine, Royal Free Hospital School of Medicine, London. a_walker@rfhsm.ac.uk
authors.forename: D F
authors.initials: DF
authors.lastname: Wallace
authors.forename: J
authors.initials: J
authors.lastname: Partridge
authors.forename: A
authors.initials: A
authors.lastname: Robertson
authors.forename: V M
authors.initials: VM
authors.lastname: Simpson
authors.forename: M
authors.initials: M
authors.lastname: Worwood
authors.forename: A B
authors.initials: AB
authors.lastname: Bomford
authors.forename: A
authors.initials: A
authors.lastname: Volz
authors.forename: A
authors.initials: A
authors.lastname: Ziegler
authors.forename: J S
authors.initials: JS
authors.lastname: Dooley
authors.forename: A P
authors.initials: AP
authors.lastname: Walker
mesh_terms: D002896:Chromosomes, Human, Pair 6; D004247:DNA / Q000235:genetics*; D016521:Electrophoresis, Gel, Pulsed-Field; D015321:Gene Rearrangement; D006432:Hemochromatosis / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007962:Leukocytes / Q000378:metabolism*; D008297:Male
chemical_list: D004247:DNA