title: Mutation detection in patients with familial hypercholesterolaemia using heteroduplex and single strand conformation polymorphism analysis by capillary electrophoresis.
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.
authors.affiliation: Department of Biology, Faculty of Science, Molecular Biology Section, Hacettepe University, Beytepe, Ankara, Turkey.
authors.forename: Mert
authors.initials: M
authors.lastname: Sozen
authors.forename: Roslyn
authors.initials: R
authors.lastname: Whittall
authors.forename: Steve E
authors.initials: SE
authors.lastname: Humphries
mesh_terms: D019075:Electrophoresis, Capillary; D020180:Heteroduplex Analysis; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational; D011973:Receptors, LDL / Q000235:genetics*
chemical_list: D011973:Receptors, LDL