Rapid detection of translation-terminating mutations at the adenomatous polyposis coli (APC) gene by direct protein truncation test.
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, and 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.
MGC Department of Human Genetics, Sylvius Laboratory, Leiden University, The Netherlands.
R
R
van der Luijt
P M
PM
Khan
H
H
Vasen
C
C
van Leeuwen
C
C
Tops
P
P
Roest
J
J
den Dunnen
R
R
Fodde
D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D025601:Adenomatous Polyposis Coli Protein; D001483:Base Sequence; D015179:Colorectal Neoplasms / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods* / Q000706:statistics & numerical data; D017931:DNA Primers / Q000235:genetics; D005091:Exons; D005260:Female; D017491:Genes, APC; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009363:Neoplasm Proteins / Q000235:genetics*; D010375:Pedigree; D014176:Protein Biosynthesis; D012680:Sensitivity and Specificity
D025601:Adenomatous Polyposis Coli Protein; D017931:DNA Primers; D009363:Neoplasm Proteins