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Am J Med Genet ; 54(4): 345-53, 1994 Dec 15.
Artigo em Inglês | MEDLINE | ID: mdl-7726207

RESUMO

Our collaborative group has undertaken a linkage study of schizophrenia, using a systematic sample of patients admitted to Maryland hospitals. An initial sample of 39 families, each having two or more affecteds, was available for genotyping candidate genes, candidate regions, and highly polymorphic markers randomly distributed throughout the genome. We used a single complex dominant model (with a disease gene frequency of 0.005 and age-dependent penetrance for affected phenotype: for under 35, penetrance = .45; for 35 and older, penetrance = .85). We report here 130 markers, which met the exclusion criteria of LOD score < -2.00 at theta > 0.01 in at least 10 informative families, and no evidence for heterogeneity. We also report here markers that were tested as candidates for linkage to the schizophrenic phenotype. They were selected based on the following criteria: a) proximity to reported chromosomal rearrangements (both 5q and 11q), b) suggestions of linkage from other families (5q), or c) presence of a candidate gene (5q, 11q, 3q: Dopamine receptors 1, 2, and 3, respectively). We also tested for mutations of codon 717 in exon 17 of the amyloid precursor protein (APP) gene and were unable to detect the C to T substitution in our schizophrenic group.


Assuntos
Cromossomos Humanos , Ligação Genética , Modelos Genéticos , Esquizofrenia/epidemiologia , Esquizofrenia/genética , Mapeamento Cromossômico , Cromossomos Humanos Par 11 , Cromossomos Humanos Par 15 , Cromossomos Humanos Par 3 , Cromossomos Humanos Par 5 , Frequência do Gene , Genes Dominantes , Marcadores Genéticos , Humanos , Maryland/epidemiologia , Fenótipo , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , Mapeamento por Restrição , Cromossomo X
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