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Linkage disequilibrium mapping places the gene causing familial Mediterranean fever close to D16S246

LEVY, E. N ; YANG SHEN ; GUMUCIO, D ; PRAS, M ; SHOHAT, M ; ROTTER, J. I ; FISCHEL-GHODSIAN, N ; RICHARDS, R. I ; KASTNER, D. L ; KUPELIAN, A ; KRUGLYAK, L ; AKSENTIJEVICH, I ; PRAS, E ; BALOW, J. E ; LINZER, B ; XIAOGUANG CHEN ; SHELTON, D. A

American journal of human genetics, 1996-03, Vol.58 (3), p.523-534 [Periódico revisado por pares]

Chicago, IL: University of Chicago Press

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Título:
Linkage disequilibrium mapping places the gene causing familial Mediterranean fever close to D16S246
Autor: LEVY, E. N ; YANG SHEN ; GUMUCIO, D ; PRAS, M ; SHOHAT, M ; ROTTER, J. I ; FISCHEL-GHODSIAN, N ; RICHARDS, R. I ; KASTNER, D. L ; KUPELIAN, A ; KRUGLYAK, L ; AKSENTIJEVICH, I ; PRAS, E ; BALOW, J. E ; LINZER, B ; XIAOGUANG CHEN ; SHELTON, D. A
Assuntos: Algorithms ; Alleles ; Arabs - genetics ; Armenia ; Biological and medical sciences ; Chromosome Mapping ; Chromosomes, Human, Pair 16 ; Computer Simulation ; Familial Mediterranean Fever - ethnology ; Familial Mediterranean Fever - genetics ; Haplotypes ; Heterozygote ; Humans ; Jews - genetics ; Linkage Disequilibrium ; Medical sciences ; Morocco ; Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis
É parte de: American journal of human genetics, 1996-03, Vol.58 (3), p.523-534
Notas: ObjectType-Article-2
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Descrição: This report presents refined genetic mapping data for the gene causing familial Mediterranean fever (FMF), a recessively inherited disorder of inflammation. We sampled 65 Jewish, Armenian, and Arab families and typed them for eight markers from chromosome 16p. Using a new algorithm that permits multipoint calculations for a dense map of markers in consanguineous families, we obtained a maximal LOD score of 49.2 at a location 1.6 cM centromeric to D16S246. A specific haplotype at D16S283-D16S94-D16S246 was found in 76% of Moroccan and 32% of non-Moroccan Jewish carrier chromosomes, but this haplotype was not overrepresented in Armenian or Arab FMF carriers. Moreover, the 2.5-kb allele at D16S246 was significantly associated with FMF in Moroccan and non-Moroccan Jews but not in Armenians or Arabs. Since the Moroccan Jewish community represents a relatively recently established and genetically isolated founder population, we analyzed the Moroccan linkage-disequilibrium data by using Luria-Delbrück formulas and simulations based on a Poisson branching process. These methods place the FMF susceptibility gene within 0.305 cM of D16S246 (2-LOD-unit range 0.02-0.64 cM).
Editor: Chicago, IL: University of Chicago Press
Idioma: Inglês

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Linkage disequilibrium mapping places the gene causing familial Mediterranean fever close to D16S246

LEVY, E. N ; YANG SHEN ; GUMUCIO, D ; PRAS, M ; SHOHAT, M ; ROTTER, J. I ; FISCHEL-GHODSIAN, N ; RICHARDS, R. I ; KASTNER, D. L ; KUPELIAN, A ; KRUGLYAK, L ; AKSENTIJEVICH, I ; PRAS, E ; BALOW, J. E ; LINZER, B ; XIAOGUANG CHEN ; SHELTON, D. A

Chicago, IL: University of Chicago Press

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