title: Isolation and characterisation of cosmids to intervals within a 4.5Mb region at 6p21.3.
abstract: The gene responsible for hereditary haemochromatosis (HH) has recently been identified. One mutation in this gene, termed HFE, has been found in all Australian HH patients. We previously identified a predominant HH ancestral haplotype covering 4.5Mb at 6p21.3, and showed that patients with two copies of this haplotype express a more severe form of the disorder. One key question to now be resolved is why haplotype related variation in phenotypic expression of HH is present if all patients tested have the same HFE mutation. A cosmid resource covering the 4.5Mb HH ancestral haplo type region was obtained. These cosmids provide the material for the completion of a transcript map of this region, and will assist the identification of candidate modifiers of HFE expression.
authors.affiliation: The Queensland Institute of Medical Research, Brisbane, Australia.
authors.forename: E C
authors.initials: EC
authors.lastname: Jazwinska
authors.forename: L M
authors.initials: LM
authors.lastname: Cullen
authors.forename: A
authors.initials: A
authors.lastname: Zournazi
authors.forename: M J
authors.initials: MJ
authors.lastname: Burt
authors.forename: B
authors.initials: B
authors.lastname: Van Der Griend
authors.forename: S
authors.initials: S
authors.lastname: Goldwurm
authors.forename: P F
authors.initials: PF
authors.lastname: Little
mesh_terms: D018244:Chromosomes, Artificial, Yeast; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D003360:Cosmids; D005260:Female; D006680:HLA Antigens / Q000235:genetics*; D006432:Hemochromatosis / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins
chemical_list: C103673:HFE protein, human; D006680:HLA Antigens; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins