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Mutation detection in patients with familial hypercholesterolaemia using heteroduplex and single strand conformation polymorphism analysis by capillary electrophoresis

Sozen, M; Whittall, R; Humphries, SE; (2004) Mutation detection in patients with familial hypercholesterolaemia using heteroduplex and single strand conformation polymorphism analysis by capillary electrophoresis. ATHEROSCLEROSIS SUPP , 5 (5) 7 - 11. 10.1016/j.atherosclerosissup.2004.09.003.

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Abstract

Mutations in the low-density lipoprotein receptor (LDLR) gene give rise to familial hypercholesterolaemia (FH). In this study we have used a 96-well capillary machine (MegaBACE, Amersham) to develop a single strand conformation polymorphism (SSCP) and heteroduplex method for the detection of mutations in the LDLR gene. We have applied this technique to 101 different mutations including single nucleotide polymorphisms in different exons of the LDLR gene. Hundred percent of these nucleotide alterations were distinguished by this method. We suggest this fast, reliable and safe method for diagnosis of FH in large patient groups. (C) 2004 Elsevier Ireland Ltd. All rights reserved.

Type:Article
Title:Mutation detection in patients with familial hypercholesterolaemia using heteroduplex and single strand conformation polymorphism analysis by capillary electrophoresis
DOI:10.1016/j.atherosclerosissup.2004.09.003
Keywords:LDLR, fluorescence, heteroduplex, SSCP, LDL RECEPTOR GENE, SSCP, GEL, DNA
UCL classification:UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science

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