A modified conformation sensitive gel electrophoresis (CSGE) method for rapid and accurate detection of low density lipoprotein (LDL) receptor gene mutations in Familial Hypercholesterolemia

Clin Biochem. 2005 Jun;38(6):579-83. doi: 10.1016/j.clinbiochem.2005.02.002.

Abstract

Objectives: A conformation sensitive gel electrophoresis (CSGE) method was modified for detection of LDL receptor gene mutations.

Design and methods: Usage of a temperature gradient against running time was tested with 33 identified mutations in the LDL receptor gene. Most of the mutations were missense.

Results: 32 mutations were detected using this method (sensitivity: 97%). The duration required for running the test for each of the exons was reduced to 3-4 h.

Conclusions: This modified CSGE method may be used as a screening procedure in genetic diseases where a variety of mutations may cause illness.

MeSH terms

  • Electrophoresis, Polyacrylamide Gel / methods*
  • Exons
  • Heterozygote
  • Humans
  • Hyperlipoproteinemia Type II / genetics*
  • Mutagenesis, Insertional
  • Mutation*
  • Mutation, Missense
  • Polymerase Chain Reaction
  • Receptors, LDL / genetics*
  • Sensitivity and Specificity
  • Sequence Deletion

Substances

  • Receptors, LDL