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From gels to chips: "Minisequencing" primer extension for analysis of point mutations and single nucleotide polymorphisms
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Molecular Medicine. (A-C Syvänen)
1999 (English)In: Human Mutation, ISSN 1059-7794, E-ISSN 1098-1004, Vol. 13, no 1, 1-10 p.Article in journal (Refereed) Published
Abstract [en]

In the minisequencing primer extension reaction, a DNA polymerase is used specifically to extend a primer that anneals immediately adjacent to the nucleotide position to be analyzed with a single labeled nucleoside triphospate complementary to the nucleotide at the variant site. The reaction allows highly specific detection of point mutations and single nucleotide polymorphisms (SNPs). Because all SNPs can be analyzed with high specificty at the same reaction conditions, minisequencing is a promising reaction principle for multiplex high-throughput genotyping assays. It is also a useful tool for accurate quantitative PCR-based analysis. This review discusses the different approaches, ranging from traditional gel-based formats to multiplex detection on microarrays that have been developed and applied to minisequencing assays.

Place, publisher, year, edition, pages
1999. Vol. 13, no 1, 1-10 p.
National Category
Medical and Health Sciences
URN: urn:nbn:se:uu:diva-55328DOI: 10.1002/(SICI)1098-1004(1999)13:1<1::AID-HUMU1>3.0.CO;2-IPubMedID: 9888384OAI: oai:DiVA.org:uu-55328DiVA: diva2:83236
Available from: 2008-10-17 Created: 2008-10-17 Last updated: 2012-04-12Bibliographically approved

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