DETECTION OF A POINT MUTATION IN CHOLESTERYL ESTER TRANSFER PROTEIN GENE BY POLYMERASE CHAIN REACTION-MEDIATED SITE-DIRECTED MUTAGENESIS

被引：8

作者：

MATSUNAGA, A ^{[1
]}

ARAKI, K ^{[1
]}

MORIYAMA, K ^{[1
]}

HANDA, K ^{[1
]}

ARAKAWA, F ^{[1
]}

NISHI, K ^{[1
]}

SASAKI, J ^{[1
]}

ARAKAWA, K ^{[1
]}

机构：

[1] FUKUOKA UNIV, SCH MED, DEPT BIOCHEM, FUKUOKA 81401, JAPAN

来源：

BIOCHIMICA ET BIOPHYSICA ACTA | 1993年 / 1166卷 / 01期

关键词：

CHOLESTERYL ESTER TRANSFER PROTEIN; PCR-MEDIATED SITE-DIRECTED MUTAGENESIS;

D O I：

10.1016/0005-2760(93)90293-I

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：131 / 134

页数：4

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