Article
Presymptomatic diagnosis in Portuguese FAP families using intragenic RFLPs and (CA)n flanking markers by fluorescence based semiautomated DNA analysis.
Journal of medical genetics - 1 Mar 1996
Almeida R, Fidalgo P, Ramalho E, Brás A, Leitão N, Mira C, Rueff J, Monteiro C
Abstract excerpt
Owing to the large size of the APC gene, responsible for familial adenomatous polyposis, direct screening for individual mutations is not a practical approach. In the present study we establish the methodology of fluorescence based semi-automated DNA analysis to perform presymptomatic diagnosis o...
Topics
- Adenomatous Polyposis Coli
- Automation
- DNA
- Female
- Genes, APC
- Genetic Markers
- Genotype
- Haplotypes
- Humans
- Introns
- Male
- Pedigree
- Polymorphism, Restriction Fragment Length
- Portugal
- Repetitive Sequences, Nucleic Acid