RAPID DETECTION OF TRANSLATION-TERMINATING MUTATIONS AT THE ADENOMATOUS POLYPOSIS-COLI (APC) GENE BY DIRECT PROTEIN TRUNCATION TEST

被引:182
作者
VANDERLUIJT, R
KHAN, PM
VASEN, H
VANLEEUWEN, C
TOPS, C
ROEST, P
DENDUNNEN, J
FODDE, R
机构
[1] MGC Department of Human Genetics, Sylvius Laboratory, Leiden University, 2300 RA Leiden
关键词
D O I
10.1006/geno.1994.1119
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
Familial adenomatous polyposis (FAP) is usually associated with protein truncating mutations in the adenomatous polyposis coli (APC) gene. The APC mutations are known to play a major role in colorectal carcinogenesis. For the identification of protein truncating mutations of the APC gene, we developed a rapid, sensitive, amen direct screening procedure. The technique is based on the in vitro transcription and translation of the genomic PCR products and is called the protein truncation test. Samples of DNA from individual FAP patients,members of a FAP family, colorectal tumors, and colorectal tumor-derived cell lines were used to show the effectiveness of this method. (C) 1994 Academic Press, Inc.
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页码:1 / 4
页数:4
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