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Titolo:
REGIONALLY CLUSTERED APC MUTATIONS ARE ASSOCIATED WITH A SEVERE PHENOTYPE AND OCCUR AT A HIGH-FREQUENCY IN NEW MUTATION CASES OF ADENOMATOUS POLYPOSIS COIL
Autore:
GAYTHER SA; WELLS D; SENGUPTA SB; CHAPMAN P; NEALE K; TSIOUPRA K; DELHANTY JDA;
Indirizzi:
UNIV COLL LONDON,DEPT GENET & BIOMETRY,WOLFSON HOUSE,4 STEPHENSON WAYLONDON NW1 2HE ENGLAND UNIV COLL LONDON,DEPT GENET & BIOMETRY LONDON NW1 2HE ENGLAND UNIV NEWCASTLE UPON TYNE,DIV HUMAN GENET,NO REG POLYPOSIS REGISTRY NEWCASTLE TYNE NE2 4AA ENGLAND ST MARKS HOSP,POLYPOSIS REGISTRY LONDON EC1V 2PS ENGLAND
Titolo Testata:
Human molecular genetics
fascicolo: 1, volume: 3, anno: 1994,
pagine: 53 - 56
SICI:
0964-6906(1994)3:1<53:RCAMAA>2.0.ZU;2-L
Fonte:
ISI
Lingua:
ENG
Soggetto:
GERM-LINE MUTATIONS; GEL-ELECTROPHORESIS; GENE; IDENTIFICATION; COLI;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
22
Recensione:
Indirizzi per estratti:
Citazione:
S.A. Gayther et al., "REGIONALLY CLUSTERED APC MUTATIONS ARE ASSOCIATED WITH A SEVERE PHENOTYPE AND OCCUR AT A HIGH-FREQUENCY IN NEW MUTATION CASES OF ADENOMATOUS POLYPOSIS COIL", Human molecular genetics, 3(1), 1994, pp. 53-56

Abstract

Germline mutation in APC at 5q21 - 22 results in the dominantly inherited syndrome adenomatous polyposis coil (APC). Somatic mutation in this gene is an early event in colorectal tumourigenesis. Both types of mutation are concentrated in the 5' half of exon 15. We have used single strand conformational polymorphism (SSCP) and heteroduplex analysisto screen for variants in this region of the gene in a total of 45 affected but unrelated individuals. Eighteen patients had no family history of the disease; of these 11 were classified as having a severe phenotype, based on an early age at presentation or cancer development. This compared with 6 of 27 familial cases. A 5 bp deletion at codon 1309 reported to occur in 10 - 15% of unselected APC patients worldwide, was found in 5 of the 18 new mutation cases and 4 of the 27 familial cases: all nine were classed as severe. A further 3 new mutations and 1familial mutation were located downstream from codon 1309, these individuals similarly being classed as phenotypically severe. In contrast all of the APC mutations detected in affected individuals with an average phenotype were located prior to codon 1309. The frequent association of a severe phenotype with fresh mutation may explain the apparent conflict of a high mutation rate (20 - 30%) in a condition, which on average, is lethal at a post-reproductive age.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 22/09/20 alle ore 17:25:11