Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes

Article Abstract:

A study was conducted to show that mutations in the extracellular domains of tumor necrosis factor (TNF) receptor can promote a dominantly inherited syndrome of episodic fever and inflammation. Six independent disease-associated abnormalities in the same gene were identified. In addition, the autosomal dominant periodic fevers characterize a category of human disease caused by mutations in TNF receptors.

Diseases, Genetic aspects, Tumor necrosis factor

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Comparison of linkage-disequilibrium methods for localization of genes influencing quantitative traits in humans

Article Abstract:

The truncated measured allele test can be used by researchers for identifying loci that impact quantitative traits. One of several linkage-disequilibrium approaches, the test was proven to be powerful with either single affected individuals or parent-child triads. However, when trait alleles exceeded two in number, the method's power is reduced.

United States, Models, Genetic disorders, Genetic research

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