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Multiplexed variation scanning for 1,000 amplicons in hundreds of patients using mismatch repair detection (MRD) on tag arrays.
Proc Natl Acad Sci U S A ; 102(41): 14717-22, 2005 Oct 11.
Article em En | MEDLINE | ID: mdl-16203980
ABSTRACT
Identification of the genetic basis of common disease may require comprehensive sequence analysis of coding regions and regulatory elements in patients and controls to find genetic effects caused by rare or heterogeneous mutations. In this study, we demonstrate how mismatch repair detection on tag arrays can be applied in a case-control study. Mismatch repair detection allows >1,000 amplicons to be screened for variations in a single laboratory reaction. Variation scanning in 939 amplicons, mostly in coding regions within a linkage peak, was done for 372 patients and 404 controls. In total, >180 Mb of DNA was scanned. Several variants more prevalent in patients than in controls were identified. This study demonstrates an approach to the discovery of susceptibility genes for common disease large-scale direct sequence comparison between patients and controls. We believe this approach can be scaled up to allow sequence comparison in the whole-genome coding regions among large sets of cases and controls at a reasonable cost in the near future.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtorno Autístico / Cromossomos Humanos Par 2 / Testes Genéticos / Predisposição Genética para Doença / Pareamento Incorreto de Bases Tipo de estudo: Diagnostic_studies / Observational_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2005 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtorno Autístico / Cromossomos Humanos Par 2 / Testes Genéticos / Predisposição Genética para Doença / Pareamento Incorreto de Bases Tipo de estudo: Diagnostic_studies / Observational_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2005 Tipo de documento: Article