Detection of a point mutation in cholesteryl ester transfer protein gene by polymerase chain reaction-mediated site-directed mutagenesis

A Matsunaga; K Araki; K Moriyama; K Handa; F Arakawa; K Nishi; J Sasaki; K Arakawa

doi:10.1016/0005-2760(93)90293-i

Detection of a point mutation in cholesteryl ester transfer protein gene by polymerase chain reaction-mediated site-directed mutagenesis

Biochim Biophys Acta. 1993 Feb 10;1166(1):131-4. doi: 10.1016/0005-2760(93)90293-i.

Authors

A Matsunaga¹, K Araki, K Moriyama, K Handa, F Arakawa, K Nishi, J Sasaki, K Arakawa

Affiliation

¹ Department of Internal Medicine, School of Medicine, Fukuoka University, Japan.

PMID: 8431487
DOI: 10.1016/0005-2760(93)90293-i

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.

MeSH terms

Adult
Aged
Aged, 80 and over
Apolipoproteins / blood
Apolipoproteins / genetics
Base Sequence
Carrier Proteins / chemistry
Carrier Proteins / genetics*
Cholesterol Ester Transfer Proteins
Cholesterol Esters / metabolism
DNA / isolation & purification
Female
Glycoproteins*
Humans
Hyperlipoproteinemias / blood
Male
Middle Aged
Molecular Sequence Data
Mutagenesis, Site-Directed*
Point Mutation*
Polymerase Chain Reaction

Substances

Apolipoproteins
CETP protein, human
Carrier Proteins
Cholesterol Ester Transfer Proteins
Cholesterol Esters
Glycoproteins
DNA