Validation of fluorescence-labeled artificial nonhuman sequences for single-strand conformation polymorphism mutation detection in familial hypercholesterolemia

Anal Biochem. 2004 Jan 1;324(1):16-21. doi: 10.1016/j.ab.2003.09.006.

Abstract

We developed a two-in-one, polymerase chain reaction (PCR)-based method with a specific amplification step and a universal amplification step in one tube to screen for the presence of DNA variations. The method relies on fluorescence-labeled artificial nonhuman sequences for mutation detection. To document utility, we applied this method as a high-throughput capillary single-strand conformation polymorphism screening system to identify 30 mutations in the low-density lipoprotein receptor gene. The sensitivity of mutant allele detection compared to wild-type allele detection was 93%. We conclude that the "two-in-one PCR" is sensitive, simple, and cost effective.

Publication types

  • Comparative Study

MeSH terms

  • Animals
  • DNA Mutational Analysis
  • DNA Primers
  • Electrophoresis, Capillary
  • Fluorescent Dyes
  • Genetic Variation
  • Hyperlipoproteinemia Type II / genetics*
  • Polymerase Chain Reaction / methods*
  • Polymorphism, Single-Stranded Conformational*
  • Receptors, LDL / genetics*
  • Reproducibility of Results
  • Staining and Labeling

Substances

  • DNA Primers
  • Fluorescent Dyes
  • Receptors, LDL