METHOD FOR THE IN VITRO DIAGNOSIS OF FAMILIAL HYPERCHOLESTEROLEMIA, COMPRISING THE DETECTION OF GENE REARRANGEMENTS

摘要

The invention relates to a method for the in vitro diagnosis of familial hypercholesterolemia, comprising the detection of gene rearrangements. The inventive method comprises (i) the quantitative analysis of DNA fragments obtained by means of multiplex PCR which can be used to amplify a whole gene in the fluorescent labelling of said fragments and (ii) a comparison of the signals obtained with those corresponding to the gene without rearrangements. The method can be used both to detect hitherto-known deletions in the r-LDL gene and to identify hitherto-unknown deletions in said gene, which are also detailed in the invention.