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

O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379, 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:	31 Oct 2022 09:35
URI:	https://orca.cardiff.ac.uk/id/eprint/81623

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