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Genotyping single nucleotide polymorphisms by primer extension and high performance liquid chromatography

Hoogendoorn, Bastiaan ORCID: https://orcid.org/0000-0001-9753-169X, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862, Oefner, P. J., Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931, Austin, J. and O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379 1999. Genotyping single nucleotide polymorphisms by primer extension and high performance liquid chromatography. Human Genetics 104 (1) , pp. 89-93. 10.1007/s004390050915

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Abstract

We have investigated the possibility of genotyping single nucleotide polymorphisms (SNPs) by primer extension and high performance liquid chromatography (HPLC). Using three polymorphisms of current interest to our group (an A/G polymorphism in the proneurotensin gene and A/G and T/C polymorphisms in the 5HT2a receptor gene), we show that robust signal is obtained using this simple analytic method which has the added advantages that sample loading and analysis are essentially automated, analytic time is brief, and no further purification step after primer extension is required. We also show that all stages of the HPLC-primer extension genotyping can be multiplexed which, together with automation, suggests that this system may be suitable for linkage studies based upon emerging SNP maps.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Neuroscience and Mental Health Research Institute (NMHRI)
Subjects: R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Publisher: Springer
ISSN: 0340-6717
Last Modified: 17 Nov 2022 12:03
URI: https://orca.cardiff.ac.uk/id/eprint/81498

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