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

@article{Cantafora1998SimpleDO,
  title={Simple detection of a point mutation in LDL receptor gene causing familial hypercholesterolemia in southern Italy by allele-specific polymerase chain reaction.},
  author={A. F. A. Cantafora and Ida Blotta and Elisabetta Mercuri and Sebastiano Calandra and Stefano Bertolini},
  journal={Journal of lipid research},
  year={1998},
  volume={39 5},
  pages={
          1101-5
        }
}
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 modify the normal restriction pattern. The mutant allele, designated as FH-Palermo-1 from the origin of the first carrier family identified, gave a specific PCR product of 109 bp clearly distinct from the… CONTINUE READING