LDL RECEPTOR MUTANT INDUCING FAMILIAL HYPERCHOLESTEROLEMIA, METHOD FOR DETECTING SAME AND PRIMER BEING USEFUL IN THE METHOD

摘要

PURPOSE: Provided are LDL receptor mutant inducing familial hypercholesterolemia, a method for detecting the same and a primer being useful in the method, therefore the mutant can be effectively used in diagnosis of familial hypercholesterolemia and gene therapy. CONSTITUTION: LDL(low density lipid protein) receptor mutant inducing familial hypercholesterolemia contains a nucleotide sequence selected from: a) a genotype in which 136th nucleotide residue in SEQ ID NO: 1, G is substituted with A; b) a genotype in which nucleotide residues from 363th to 379th in SEQ ID NO: 2 are deleted; c) a genotype in which 15th nucleotide residue in SEQ ID NO: 3, G is substituted with A; d) a genotype in which CTAG are inserted between 134th and 135th nucleotide residues of SEQ ID NO: 4; and e) a genotype in which 116th nucleotide residue of SEQ ID NO: 5, C is substituted with A. A set of primers useful in the method has an amino acid sequence selected from the nucleotide sequences of SEQ ID NOs: 10 and 11, 14 and 15, 20 and 21, 28 and 29, and 34 and 35.