1. Linkage of familial Hibernian fever to chromosome 12p13
- Author
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Ying Wan, John McCarthy, Michael G. Molloy, Michael F. McDermott, Kathleen A. Quane, M Phelan, Christopher I. Amos, Elizabeth M. McDermott, Graham A. Hitman, B. William Ogunkolade, Richard J. Powell, and Lisa C. Jones
- Subjects
Male ,Genetic Linkage ,Familial Mediterranean fever ,Hibernian fever ,Biology ,Fever of Unknown Origin ,Genetic determinism ,03 medical and health sciences ,0302 clinical medicine ,Gene mapping ,Genetic linkage ,medicine ,Genetics ,Humans ,Genetics(clinical) ,030212 general & internal medicine ,Fever of unknown origin ,Chromosome 12p13 ,Genetics (clinical) ,030304 developmental biology ,Genes, Dominant ,0303 health sciences ,Chromosomes, Human, Pair 12 ,Linkage ,Genetic heterogeneity ,Chromosome Mapping ,Proteins ,Familial Hibernian fever ,Pyrin ,medicine.disease ,Autosomal dominant periodic fever ,3. Good health ,Familial Mediterranean Fever ,Pedigree ,Cytoskeletal Proteins ,TNF receptor associated periodic syndrome ,Etiology ,Female ,Research Article - Abstract
Summary 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.
- Published
- 1998