METHOD AND DEVICE FOR THE IN VITRO DIAGNOSIS OF FAMILIAL HYPERCHOLESTEROLEMIA, BASED ON THE DETECTION OF MUTATIONS IN THE GENE SEQUENCE OF THE LOW-DENSITY LIPOPROTEIN RECEPTOR (LDLR)

摘要

Certificate of addition to patent number 200300206 for a method and device for the detection of mutations in isolated gene sequences of the low-density lipoprotein receptor (LDLR) which is associated with familial hypercholesterolemia. The invention relates to extracorporeal methods of analysing the presence or absence of 12 mutations which cause familial hypercholesterolemia. The inventive methods describe the way in which said mutations can be detected using a DNA sample from an individual and comprising the following: chain reaction of the polymerase with primers which are complementary to the low-density lipoprotein receptor gene; analysis of the amplified product by sequencing; restriction analysis; single strand conformation polymorphism techniques; heteroduplex analysis and analysis of a device on top of a biochip glass support on which oligonucleotide probes are disposed, which can be used to detect the aforementioned 12 mutations in the DNA.