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

The invention relates to extracorporeal methods of analysing the presence or absence of 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 reacti...

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Hauptverfasser:	TEJEDOR HERNANDEZ, DIEGO, CASTILLO FERNANDEZ, SERGIO, MALLEN PEREZ, MIGUEL, POCOVI MIERAS, MIGUEL, MATA LOPEZ, PEDRO, ALONSO KARLEZI, RODRIGO ALBERTO, MOZAS ALONSO, PILAR, REYES LEAL, GILBERTO, MARTINEZ MARTINEZ, ANTONIO
Format:	Patent
Sprache:	eng ; fre
Schlagworte:	BEER BIOCHEMISTRY CHEMISTRY COMPOSITIONS OR TEST PAPERS THEREFOR COMPOSITIONS THEREOF CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES CULTURE MEDIA ENZYMOLOGY MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS METALLURGY MICROBIOLOGY MICROORGANISMS OR ENZYMES MUTATION OR GENETIC ENGINEERING PROCESSES OF PREPARING SUCH COMPOSITIONS PROPAGATING, PRESERVING OR MAINTAINING MICROORGANISMS SPIRITS VINEGAR WINE
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Beschreibung
Zusammenfassung:	The invention relates to extracorporeal methods of analysing the presence or absence of 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 mutations in the DNA.