title: Linkage of familial Hibernian fever to chromosome 12p13.
abstract: Autosomal dominant periodic fevers are characterized by intermittent febrile attacks of unknown etiology and by recurrent abdominal pains. The biochemical and molecular bases of all autosomal dominant periodic fevers are unknown, and only familial Hibernian fever (FHF) has been described as a distinct clinical entity. FHF has been reported in three families-the original Irish-Scottish family and two Irish families with similar clinical features. We have undertaken a genomewide search in these families and report significant multipoint LOD scores between the disease and markers on chromosome 12p13. Cumulative multipoint linkage analyses indicate that an FHF gene is likely to be located in an 8-cM interval between D12S77 and D12S356, with a maximum LOD score (Z max) of 3.79. The two-point Z max was 3.11, for D12S77. There was no evidence of genetic heterogeneity in these three families; it is proposed that these markers should be tested in other families, of different background, that have autosomal dominant periodic fever, as a prelude to identification of the FHF-susceptibility gene.
authors.affiliation: Medical Unit, St. Bartholomew's and the Royal London Hospital School of Medicine and Dentistry, Whitechapel, London, UK. M.F.McDermott@mds.qmw.ac.uk
authors.forename: M F
authors.initials: MF
authors.lastname: McDermott
authors.forename: B W
authors.initials: BW
authors.lastname: Ogunkolade
authors.forename: E M
authors.initials: EM
authors.lastname: McDermott
authors.forename: L C
authors.initials: LC
authors.lastname: Jones
authors.forename: Y
authors.initials: Y
authors.lastname: Wan
authors.forename: K A
authors.initials: KA
authors.lastname: Quane
authors.forename: J
authors.initials: J
authors.lastname: McCarthy
authors.forename: M
authors.initials: M
authors.lastname: Phelan
authors.forename: M G
authors.initials: MG
authors.lastname: Molloy
authors.forename: R J
authors.initials: RJ
authors.lastname: Powell
authors.forename: C I
authors.initials: CI
authors.lastname: Amos
authors.forename: G A
authors.initials: GA
authors.lastname: Hitman
mesh_terms: D002874:Chromosome Mapping; D002881:Chromosomes, Human, Pair 12; D003598:Cytoskeletal Proteins; D010505:Familial Mediterranean Fever / Q000235:genetics*; D005260:Female; D005335:Fever of Unknown Origin / Q000235:genetics*; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D000071198:Pyrin
chemical_list: D003598:Cytoskeletal Proteins; D011506:Proteins; D000071198:Pyrin