Genetics
A silver-stained PCR-SSCP assay rapidly detects the intron 14 CETP-deficiency mutation without radioactivity (Clin Chem 1994)
Original title: Simple and rapid detection of cholesteryl ester transfer protein deficiency by using nonradioisotopic single-strand conformation polymorphism analysis
A polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) technique using silver staining was developed to detect the G to A point mutation in intron 14 of the cholesteryl ester transfer protein (CETP) gene, the most common mutation causing CETP deficiency. After conventional PCR, amplified DNA was heated and electrophoresed in glycerol-containing polyacrylamide gel, then silver-stained to visualize DNA bands. Applying this method to 40 subjects with high-density lipoprotein cholesterol concentrations of 1 g/L or greater identified one homozygote and eight heterozygotes for the mutation. The procedure avoids radioactive materials and restriction enzymes, making it well suited to rapid screening for CETP deficiency.
Original abstract
We developed a polymerase chain reaction (PCR)-single-strand conformation polymorphism (SSCP) analysis technique by using silver staining to detect the G-->A point mutation of intron 14 of the cholesteryl ester transfer protein (CETP) gene, which is a common mutation in CETP deficiency. After conventional PCR, amplified DNA was heated and subjected to electrophoresis in polyacrylamide gel containing glycerol. The gel was then stained with silver to identify DNA bands. With this technique, we examined 40 subjects with high concentrations of high-density lipoprotein cholesterol (> or = 1 g/L) and found one homozygote and eight heterozygotes. The procedure is suitable for screening because it is quick and does not require radioactive materials or restriction enzymes.
Summary written by cetpinhibition.org from the published abstract; figures as published. Page updated 19 August 2026. Methods.