Germ-line mutations in the first 14 exons of the adenomatous polyposis coli (APC) gene

Journal Article · Mon Feb 01 04:00:00 EST 1993 · American Journal of Human Genetics; (United States)

OSTI ID:6572755

Olschwang, S; Laurent-Puig, P; Thomas, G ^[1]; Groden, J; White, R ^[2]

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1. Institut Curie, Paris (France)
2. Univ. of Utah, Salt Lake City (United States)

The first 14 exons of the APC gene have been screened by the denaturation gradient gel electrophoresis method in 160 unrelated patients with familial adenomatous polyposis coli (APC) syndrome. Four polymorphic variants corresponding to silent mutations not associated with the disease phenotype were observed. Mutations predicted to alter the coding property of the APC gene were observed in 26 patients. All these mutations are expected to lead either to aberrant splicing, to synthesis of a truncated APC protein because of the emergence of a stop codon, or to a change in the translation reading frame. Single-base-pair substitutions were observed on 21 occasions. The most frequent mutation (eight cases) was a C-to-T change which exclusively occurred on the nontranscribed stand within a CG dinucleotide. 23 refs., 3 figs., 3 tabs.

• OSTI ID: 6572755
• Journal Information: American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 52:2; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
ADENOMAS
BODY
CARCINOMAS
DETECTION
DIGESTIVE SYSTEM
DISEASES
DNA SEQUENCING
ELECTROPHORESIS
GASTROINTESTINAL TRACT
GENE MUTATIONS
GENETIC MAPPING
INTESTINES
LARGE INTESTINE
MAPPING
MUTATIONS
NEOPLASMS
ORGANS
RFLPS
STRUCTURAL CHEMICAL ANALYSIS