title: A recombination event close to HFE gene in hereditary hemochromatosis.
abstract: A candidate gene for Hereditary Hemochromatosis (HFE) has been recently cloned from a region 4 cM telomeric to HLA-A on the short arm of chromosome 6. This gene, defined HFE, is mutated in a high proportion of HFE patients. Positional cloning of HFE has been difficult, because of the extended region of linkage disequilibrium observed around the gene and of the rarity of recombination events in this DNA area. Here we describe a crossover in an Italian HFE patient which occurred close to the HFE gene in a restricted interval between D6S2221 and D6S2240-D6S2238 markers. The molecular analysis of this event and the segregation of the HFE mutations in the family are consistent with the position of the HFE gene telomeric to D6S2221.
authors.affiliation: Dipartimento di Scienze Biomediche e Oncologia Umana, Ospedale San Luigi Gonzaga, Università di Torino, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Roetto
authors.forename: L
authors.initials: L
authors.lastname: Sbaiz
authors.forename: S
authors.initials: S
authors.lastname: Bosio
authors.forename: A
authors.initials: A
authors.lastname: Piperno
authors.forename: S
authors.initials: S
authors.lastname: Fargion
authors.forename: M
authors.initials: M
authors.lastname: Carella
authors.forename: A
authors.initials: A
authors.lastname: Totaro
authors.forename: A
authors.initials: A
authors.lastname: Grifa
authors.forename: P
authors.initials: P
authors.lastname: Gasparini
authors.forename: C
authors.initials: C
authors.lastname: Camaschella
mesh_terms: D000328:Adult; D002874:Chromosome Mapping; D005819:Genetic Markers; D006432:Hemochromatosis / Q000235:genetics*; D006801:Humans; D007558:Italy; D015810:Linkage Disequilibrium; D008297:Male; D011995:Recombination, Genetic
chemical_list: D005819:Genetic Markers