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Titolo:
APC MUTATION IN THE ALTERNATIVELY SPLICED REGION OF EXON-9 ASSOCIATEDWITH LATE-ONSET FAMILIAL ADENOMATOUS POLYPOSIS
Autore:
VANDERLUIJT RB; VASEN HFA; TOPS CMJ; BREUKEL C; FODDE R; KHAN PM;
Indirizzi:
LEIDEN STATE UNIV,FAC MED,MGC DEPT HUMAN GENET,SYLVIUS LAB,WASSENAARSEWEG 72 2333 AL LEIDEN NETHERLANDS NETHERLANDS FDN DETECT HEREDITARY TUMORS LEIDEN NETHERLANDS
Titolo Testata:
Human genetics
fascicolo: 6, volume: 96, anno: 1995,
pagine: 705 - 710
SICI:
0340-6717(1995)96:6<705:AMITAS>2.0.ZU;2-9
Fonte:
ISI
Lingua:
ENG
Soggetto:
GERM-LINE MUTATIONS; ATTENUATED FORM; COLI PATIENTS; GENE-PRODUCT; COILED-COIL; IDENTIFICATION; CANCER; LOCUS; CHROMOSOME-5Q21; PROTEIN;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
31
Recensione:
Indirizzi per estratti:
Citazione:
R.B. Vanderluijt et al., "APC MUTATION IN THE ALTERNATIVELY SPLICED REGION OF EXON-9 ASSOCIATEDWITH LATE-ONSET FAMILIAL ADENOMATOUS POLYPOSIS", Human genetics, 96(6), 1995, pp. 705-710

Abstract

Germ-line mutations in the adenomatous polyposis coli (APC) gene are responsible for familial adenomatous polyposis (FAP). Genotype-phenotype correlation studies in patients with FAP have demonstrated associations of certain variants of the disease with mutations at specific sites within the APC gene. In a large FAP family, we identified a frameshift mutation located in the alternatively spliced region of exon 9. Phenotypic studies of affected family members showed that the clinical course of FAP was delayed, with gastrointestinal symptoms and death from colorectal carcinoma occurring on average 25 and 20 years later thanusual, respectively. The numbers of colorectal adenomas differed markedly among affected individuals and the location of colorectal cancer lay frequently in the proximal colon. Our findings suggest that the exon 9 mutation identified in the pedigree is associated with late onsetof FAP. The atypical phenotype may be explained by the site of the mutation in the APC gene. Analysis of the APC protein product indicated that the exon 9 mutation did not result in a detectable truncated APC protein. Given the location of the mutation within an alternatively spliced exon of APC, it is conceivable that normal APC proteins are produced from the mutant allele by alternative splicing.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 24/11/20 alle ore 14:18:12