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Blind analysis of denaturing high-performance liquid chromatography as a tool for mutation detection

O'Donovan, Michael Conlon, Oefner, P. J., Roberts, S. C., Austin, J., Hoogendoorn, B., Guy, C., Speight, G., Upadhyaya, M., Sommer, S. S. and McGuffin, P. 1998. Blind analysis of denaturing high-performance liquid chromatography as a tool for mutation detection. Genomics 52 (1) , pp. 44-49. 10.1006/geno.1998.5411

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Abstract

Denaturing high-performance liquid chromatography (DHPLC) is a novel high-capacity technique for detecting new mutations. We have evaluated the sensitivity and specificity of this method in a blind analysis of exon H of the factor IX gene and exon 16 of the neurofibromatosis type 1 gene. Under a single set of conditions for each exon, 55/55 individuals carrying 48 unique mutations were correctly identified as were 55/55 individuals with wildtype alleles. We conclude that DHPLC is a highly sensitive and specific method for mutation detection.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Subjects: R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Publisher: Elsevier
ISSN: 0888-7543
Last Modified: 04 Jun 2017 08:38
URI: http://orca.cardiff.ac.uk/id/eprint/81623

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