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Titolo:
RAPID DETECTION OF RARE VARIANTS AND COMMON POLYMORPHISMS IN THE APC GENE BY PCR-SSCP FOR PRESYMPTOMATIC DIAGNOSIS AND SHOWING ALLELE LOSS
Autore:
GAYTHER SA; SUD R; WELLS D; TSIOUPRA K; DELHANTY JDA;
Indirizzi:
UNIV LONDON UNIV COLL,GALTON LAB,DEPT GENET & BIOMETRY,WOLFSON HOUSE,4 STEPHENSON WAY LONDON NW1 2HE ENGLAND UNIV LONDON UNIV COLL,GALTON LAB,DEPT GENET & BIOMETRY LONDON NW1 2HEENGLAND
Titolo Testata:
Journal of Medical Genetics
fascicolo: 7, volume: 32, anno: 1995,
pagine: 568 - 571
SICI:
0022-2593(1995)32:7<568:RDORVA>2.0.ZU;2-G
Fonte:
ISI
Lingua:
ENG
Soggetto:
POLYPOSIS-COLI GENE; ADENOMATOUS POLYPOSIS; MUTATIONS; IDENTIFICATION; CHROMOSOME-5Q21; LOCUS; FAP;
Tipo documento:
Note
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
16
Recensione:
Indirizzi per estratti:
Citazione:
S.A. Gayther et al., "RAPID DETECTION OF RARE VARIANTS AND COMMON POLYMORPHISMS IN THE APC GENE BY PCR-SSCP FOR PRESYMPTOMATIC DIAGNOSIS AND SHOWING ALLELE LOSS", Journal of Medical Genetics, 32(7), 1995, pp. 568-571

Abstract

During the course of screening the 5' half of exon 15 of the APC genefor germline and somatic mutations in two groups of patients, those with the inherited cancer prone syndrome adenomatous polyposis coli (APC) or with sporadic colorectal cancer, we have identified a number of intragenic changes that are not associated with the disease phenotype. Four of these changes are rare variants, each confined to one or two families and not detected in 50 additional unrelated people. Two common polymorphisms, at codon 1493 (exon 151) and codon 1578 (exon 15J), were extensively investigated and found to be in almost complete linkage disequilibrium not only with each other but with a previously described polymorphism at codon 1960 (exon 15N). The rapid and sensitive single strand conformation assay used provides an efficient method for presymptomatic diagnosis using intragenic variants and was additionally used to show allele loss at the APC locus in sporadic colorectal carcinomas.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/09/20 alle ore 22:54:10