title: Presymptomatic diagnosis of familial adenomatous polyposis using intragenic polymorphisms and CA repeats flanking the APC gene.
abstract: To assess the value of DNA markers for the diagnosis of familial adenomatous polyposis (FAP) in South Africa, two highly informative CA-repeat polymorphisms (LNS CA-repeat in D5S346 and YN5.64c CA-repeat in D5S82) flanking the adenomatous polyposis coli (APC) gene, and three intragenic restriction fragment length polymorphisms (RFLPs) (exon 11/RsaI, exon 15.11/MspI, 3'UTR/SspI), were used for haplotype analysis in 13 South African families with the disease. The combination of these polymorphic markers proved to be highly informative and allowed an accurate diagnosis of FAP in 34/35 of the at-risk individuals analysed. Indirect molecular screening can therefore provide a comprehensive pre-clinical diagnostic test for FAP in South Africa. No predominant haplotype was found to be associated with FAP within the South African population. This suggests the absence of founder-type mutations in affected families and therefore marker studies remain important for the pre-clinical diagnosis of FAP in South Africa.
authors.affiliation: Department of Human Genetics, Faculty of Medicine, University of Stellenbosch, Tygerberg, South Africa.
authors.forename: V M
authors.initials: VM
authors.lastname: Hayes
authors.forename: M J
authors.initials: MJ
authors.lastname: Kotze
authors.forename: J J
authors.initials: JJ
authors.lastname: Grobbelaar
authors.forename: M V
authors.initials: MV
authors.lastname: Madden
authors.forename: R
authors.initials: R
authors.lastname: Ramesar
authors.forename: C J
authors.initials: CJ
authors.lastname: Oosthuizen
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000175:diagnosis / Q000235:genetics*; D025601:Adenomatous Polyposis Coli Protein; D000328:Adult; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics; D005260:Female; D006580:Genetic Carrier Screening; D005819:Genetic Markers / Q000235:genetics*; D005820:Genetic Testing; D005828:Genetics, Population; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic / Q000235:genetics*; D012091:Repetitive Sequences, Nucleic Acid; D013019:South Africa
chemical_list: D025601:Adenomatous Polyposis Coli Protein; D003598:Cytoskeletal Proteins; D005819:Genetic Markers