Mutation detection in patients with familial hypercholesterolaemia using heteroduplex and single strand conformation...

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.