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Re-sequencing of multiple single nucleotide polymorphisms by liquid chromatography-electrospray ionization mass spectrometry.
Oberacher, H; Oefner, P J; Hölzl, G; Premstaller, A; Davis, K; Huber, C G.
Afiliación
  • Oberacher H; Institute of Analytical Chemistry and Radiochemistry, Leopold-Franzens-University, Innrain 52a, A-6020 Innsbruck, Austria.
Nucleic Acids Res ; 30(14): e67, 2002 Jul 15.
Article en En | MEDLINE | ID: mdl-12136115
Allelic discrimination of single nucleotide polymorphisms (SNPs) and, particularly, determination of the phase of multiple variations are of utmost importance in genetics. The physicochemical separation of alleles by completely denaturing ion-pair reversed-phase high-performance liquid chromatography and their on-line sequence determination by electrospray ionization mass spectrometry is demonstrated. Simultaneous genotyping of two and three simple sequence polymorphisms contained within 73-114 bp was accomplished with low femtomolar amounts of unpurified amplicons from polymerase chain reaction. Determination of allelic composition is enabled by the high accuracy (better than 0.019%) of intact mass measurements or by comparative sequencing using gas-phase fragmentation and tandem mass spectrometry in combination with fully automated, computer-aided data interpretation.
Asunto(s)

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cromatografía Liquida / Análisis de Secuencia de ADN / Polimorfismo de Nucleótido Simple / Espectrometría de Masa por Ionización de Electrospray Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: Nucleic Acids Res Año: 2002 Tipo del documento: Article País de afiliación: Austria Pais de publicación: Reino Unido

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cromatografía Liquida / Análisis de Secuencia de ADN / Polimorfismo de Nucleótido Simple / Espectrometría de Masa por Ionización de Electrospray Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: Nucleic Acids Res Año: 2002 Tipo del documento: Article País de afiliación: Austria Pais de publicación: Reino Unido