Simple detection of a point mutation in LDL receptor gene causing familial hypercholesterolemia in southern Italy by allele-specific polymerase chain reaction.

Abstract excerpt

Polymerase chain reaction (PCR) amplification of specific alleles allowed the rapid detection of a point mutation (missense Gly528 --> Asp) in exon 11 of the low density lipoprotein receptor gene which was otherwise not detectable by exon amplification and enzymatic digestion as it does not modif...

Topics

• Alleles
• Electrophoresis, Polyacrylamide Gel
• Genetic Testing
• Humans
• Hyperlipoproteinemia Type II
• Italy
• Point Mutation
• Polymerase Chain Reaction
• Receptors, LDL