Absence of mutations in the promoter region of the low density lipoprotein receptor gene in a large number of familial hypercholesterolaemia patients as revealed by denaturing gradient gel electrophoresis.

Abstract excerpt

Denaturing gradient gel electrophoresis (DGGE) was used in combination with the polymerase chain reaction (PCR) to detect sequence variations in the promoter region of the low density lipoprotein receptor (LDLR) gene. On the basis of calculated predictive melting properties we designed primers to amplify a 447-bp fragment of the promoter region from position -512 to -66, containing previously identified...

Topics

• Base Sequence
• Chromosome Aberrations
• Computer Simulation
• Electrophoresis, Polyacrylamide Gel
• Genes
• Humans
• Hyperlipoproteinemia Type II
• Molecular Sequence Data
• Mutagenesis, Site-Directed
• Mutation