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  • Title: Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16.
    Author: Tromp G, Kuivaniemi H, Raphael S, Ala-Kokko L, Christiano A, Considine E, Dhulipala R, Hyland J, Jokinen A, Kivirikko S, Korn R, Madhatheri S, McCarron S, Pulkkinen L, Punnett H, Shimoya K, Spotila L, Tate A, Williams CJ.
    Journal: Am J Hum Genet; 1996 Nov; 59(5):1097-107. PubMed ID: 8900239.
    Abstract:
    Blau syndrome (MIM 186580), first described in a large, three-generation kindred, is an autosomal, dominantly inherited disease characterized by multiorgan, tissue-specific inflammation. Its clinical phenotype includes granulomatous arthritis, skin rash, and uveitis and probably represents a subtype of a group of clinical entities referred to as "familial granulomatosis." It is the sole human model with recognizably Mendelian inheritance for a variety of multisystem inflammatory diseases affecting a significant percentage of the population. A genomewide search for the Blau susceptibility locus was undertaken after karyotypic analysis revealed no abnormalities. Sixty-two of the 74-member pedigree were genotyped with dinucleotide-repeat markers. Linkage analysis was performed under a dominant model of inheritance with reduced penetrance. The marker D16S298 gave a maximum LOD score of 3.75 at theta = .04, with two-point analysis. LOD scores for flanking markers were consistent and placed the Blau susceptibility locus within the 16p12-q21 interval.
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