METHOD AND DEVICE FOR THE DETECTION OF MUTATIONS IN ISOLATED GENE SEQUENCES OF THE LOW DENSITY LIPOPROTEIN RECEPTOR (LDL-R) WHICH IS ASSOCIATED WITH FAMILIAL HYPERCHOLESTEROLEMIA

摘要

The invention relates to extracorporeal methods of analysing the presence orabsence of mutations which cause familial hypercholesterolemia. The inventivemethods describe the way in which said mutations can be detected using a DNAsample from an individual and comprising the following: chain reaction of thepolymerase with primers which are complementary to the low-density lipoproteinreceptor gene; analysis of the amplified product by sequencing; restrictionanalysis; single strand conformation polymorphism techniques; heteroduplexanalysis and analysis of a device on top of a biochip glass support on whicholigonucleotide probes are disposed, which can be used to detect theaforementioned mutations in the DNA.