RESUMO
BACKGROUND: Essential tremor (ET) is the most prevalent inherited movement disorder. ET has been mapped on chromosomes 2 and 3, but causative genes are not known. METHODS: We genotyped 16 microsatellite markers in a case-control cohort consisting of 104 patients and 116 controls. RESULTS: No significant difference between allele frequencies was found. The highest difference of frequencies was found in allele 171 of the marker D2S220 (OR 0.13, 95% CI 0.02-1.03, P = 0.05). In addition, we investigated the distribution of suspected disease gene DRD3 Ser9Gly polymorphism in the same patients and controls. CONCLUSION: There was not a significant difference in genotypic distribution between disease group and control subjects (chi2 =2.8, P = 0.25).
Assuntos
Tremor Essencial/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Alelos , Estudos de Casos e Controles , Mapeamento Cromossômico , Tremor Essencial/epidemiologia , Feminino , Ligação Genética , Predisposição Genética para Doença , Humanos , Letônia/epidemiologia , Masculino , Repetições de Microssatélites , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Receptores de Dopamina D3/genéticaRESUMO
Drosophila melanogaster is a proven model system for many aspects of human biology. Here we present a two-hybrid-based protein-interaction map of the fly proteome. A total of 10,623 predicted transcripts were isolated and screened against standard and normalized complementary DNA libraries to produce a draft map of 7048 proteins and 20,405 interactions. A computational method of rating two-hybrid interaction confidence was developed to refine this draft map to a higher confidence map of 4679 proteins and 4780 interactions. Statistical modeling of the network showed two levels of organization: a short-range organization, presumably corresponding to multiprotein complexes, and a more global organization, presumably corresponding to intercomplex connections. The network recapitulated known pathways, extended pathways, and uncovered previously unknown pathway components. This map serves as a starting point for a systems biology modeling of multicellular organisms, including humans.