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

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. (c) 2005 The Canadian Society of Clinical Chemists. All rights reserved.