The use of DNA markers in the pre-clinical diagnosis of familial adenomatous polyposis.
Isr J Med Sci
; 33(1): 8-13, 1997 Jan.
Article
em En
| MEDLINE
| ID: mdl-9203511
ABSTRACT
Familial adenomatous polyposis (FAP), an autosomal dominant inherited disease, confers a high risk of colon cancer. For presymptomatic diagnosis of FAP, we performed linkage studies in three unrelated Israeli families with FAP, using seven polymorphic systems around or at the APC locus on chromosome 5q. These systems are constituted of three DNA probes, recognizing four restriction fragment length polymorphism C11p11, YN5.48 and pi227; three cytosine-adenine repeat markers D5S318, D5S346 and MBC; and one intragenic polymorphism APC-SspI. A meiotic recombination event was detected, apparently between the FAP gene and probe pi227. Based on the different analysis systems, we determined the haplotype at the APC locus in 11 at-risk individuals of the three families, six of whom were found to carry the disease-linked allele. Additionally, we identified a new FAP patient, in whom sigmoidoscopy showed the presence of adenomatous polyps throughout the colon.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 5
/
Biomarcadores Tumorais
/
Polipose Adenomatosa do Colo
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Female
/
Humans
/
Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
Isr J Med Sci
Ano de publicação:
1997
Tipo de documento:
Article
País de afiliação:
Israel