Genetics
A PCR-based site-directed mutagenesis method detects one CETP-deficiency homozygote and three heterozygotes among 554 Japanese subjects (Biochim Biophys Acta 1993)
Original title: Detection of a point mutation in cholesteryl ester transfer protein gene by polymerase chain reaction-mediated site-directed mutagenesis
A method for rapid, non-radioactive detection of a cholesteryl ester transfer protein (CETP) gene point mutation was developed using polymerase chain reaction-mediated site-directed mutagenesis. Applying this method to 554 Japanese subjects (370 men, 184 women) aged between 18 and 91 years (mean 48.3 years) identified one homozygote and 3 heterozygotes for CETP deficiency.
Original abstract
We describe a method for the rapid and non-radioactive examination of DNA samples for a mutation of cholesteryl ester transfer protein using a polymerase chain reaction-mediated site-directed mutagenesis. CETP deficiencies were studied in 554 Japanese subjects (370 men, 184 women) aged between 18 and 91 (mean 48.3 years). By this method, we detected one homozygote and 3 heterozygotes of the CETP deficiency.
Summary written by cetpinhibition.org from the published abstract; figures as published. Page updated 19 August 2026. Methods.