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

Mert Sozen; Roslyn Whittall; Steve E Humphries

doi:10.1016/j.atherosclerosissup.2004.09.003

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

Atheroscler Suppl. 2004 Dec;5(5):7-11. doi: 10.1016/j.atherosclerosissup.2004.09.003.

Authors

Mert Sozen¹, Roslyn Whittall, Steve E Humphries

Affiliation

¹ Department of Biology, Faculty of Science, Molecular Biology Section, Hacettepe University, Beytepe, Ankara, Turkey.

PMID: 15556093
DOI: 10.1016/j.atherosclerosissup.2004.09.003

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Electrophoresis, Capillary*
Heteroduplex Analysis*
Humans
Hyperlipoproteinemia Type II / diagnosis
Hyperlipoproteinemia Type II / genetics*
Mutation*
Polymorphism, Single-Stranded Conformational*
Receptors, LDL / genetics*

Substances

Receptors, LDL