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Titolo:
MOLECULAR, CYTOGENETIC, AND PHENOTYPIC STUDIES OF A CONSTITUTIONAL RECIPROCAL TRANSLOCATION T(5-10)(Q22-Q25) RESPONSIBLE FOR FAMILIAL ADENOMATOUS POLYPOSIS IN A DUTCH PEDIGREE
Autore:
VANDERLUIJT RB; TOPS CMJ; KHAN PM; VANDERKLIFT HM; BREUKEL C; VANLEEUWENCORNELISSE ISJ; DAUWERSE HG; BEVERSTOCK GC; VANNOORT E; SNEL P; SLORS FJM; VASEN HFA; FODDE R;
Indirizzi:
LEIDEN UNIV,SYLVIUS LAB,MGC,DEPT HUMAN GENET LEIDEN NETHERLANDS NETHERLANDS FDN DETECT HEREDITARY TUMORS LEIDEN NETHERLANDS LEIDEN UNIV HOSP,DEPT CLIN CYTOGENET LEIDEN NETHERLANDS SLOTERVAART HOSP,DEPT GASTROENTEROL AMSTERDAM NETHERLANDS UNIV AMSTERDAM,ACAD MED CTR,DEPT SURG 1105 AZ AMSTERDAM NETHERLANDS
Titolo Testata:
Genes, chromosomes & cancer
fascicolo: 3, volume: 13, anno: 1995,
pagine: 192 - 202
SICI:
1045-2257(1995)13:3<192:MCAPSO>2.0.ZU;2-E
Fonte:
ISI
Lingua:
ENG
Soggetto:
GERM-LINE MUTATIONS; NONRADIOACTIVE INSITU HYBRIDIZATION; APC-GENE; COLI GENE; INTERSTITIAL DELETION; GEL-ELECTROPHORESIS; HUMAN-CHROMOSOMES; GARDNER SYNDROME; IDENTIFICATION; LOCUS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
44
Recensione:
Indirizzi per estratti:
Citazione:
R.B. Vanderluijt et al., "MOLECULAR, CYTOGENETIC, AND PHENOTYPIC STUDIES OF A CONSTITUTIONAL RECIPROCAL TRANSLOCATION T(5-10)(Q22-Q25) RESPONSIBLE FOR FAMILIAL ADENOMATOUS POLYPOSIS IN A DUTCH PEDIGREE", Genes, chromosomes & cancer, 13(3), 1995, pp. 192-202

Abstract

Familiar adenomatous polyposis (FAP) is an inherited predisposition to colorectal cancer caused by germline mutations in the adenomatous polyposis coli (APC) gene located on chromosome segment 5921-q22, We detected a germline rearrangement of the APC gene in a Dutch FAP family by screening genomic DNA samples with APC cDNA probes, Subsequent molecular and cytogenetic studies revealed a constitutional reciprocal translocation t(5;10)(q22;q25) that resulted in the disruption of the APC gene, Southern blot and polymorphic marker analysis indicated that part of the APC gene had been deleted, Analysis of the APC protein product indicated that the translocation breakpoint did nor lead to the formation of a detectable truncated APC protein but apparently resulted ina null allele. Evaluation of the clinical phenotypes in the patients suggested that they exhibited features of an unusual form of FAP characterized by a slightly delayed age of onset of colorectal cancer and areduced number of colorectal polyps. The latter were mainly sessile and were located predominantly in the proximal colon. To our knowledge,this is the first description of FAP caused by a reciprocal translocation disrupting the APC gene. (C) 1995 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/11/20 alle ore 06:52:46