Rapid detection of translation-terminating mutations at the adenomatous polyposis coli (APC) gene by direct protein truncation test

Journal Article · Tue Mar 01 00:00:00 EST 1994 · Genomics; (United States)

DOI:https://doi.org/10.1006/geno.1994.1119· OSTI ID:7062030

Van Der Luut, R; Khan, P M; Van Leeuwen, C; Tops, C; Roest, P; Den Dunnen, J ^[1]

---

1. Leiden Univ. (Netherlands)

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 carcinogensis. For the identification of protein truncating mutations of the APC gene, the authors 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. 9 refs., 2 figs.

• OSTI ID: 7062030
• Journal Information: Genomics; (United States), Vol. 20:1; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
GENE MUTATIONS
DETECTION
RECTUM
NEOPLASMS
POLYMERASE CHAIN REACTION
BODY
DIGESTIVE SYSTEM
DISEASES
GASTROINTESTINAL TRACT
GENE AMPLIFICATION
INTESTINES
LARGE INTESTINE
MUTATIONS
ORGANS
550400* - Genetics