title: Screening South African familial adenomatous polyposis families for the five-nucleotide deletion at codon 1309 of the APC gene.
abstract: We report the occurrence of a common five-nucleotide deletion at codon 1309 of the adenomatous polyposis coli (APC) gene in four different South African population groups. The mutation causes familial adenomatous polyposis (FAP) in 18% (4/22 unrelated patients screened) of affected South Africans, which is similar to the frequency described in several other populations. Knowledge of the gene mutation underlying FAP enabled conclusive genetic testing of at-risk family members of four index patients in which this specific mutation has been characterized. The non-radioactive heteroduplex method described in this study allowed cost-effective molecular diagnosis directly after electrophoresis of enzymatically-amplified DNA in agarose gels. The resulting reduction of uncertainty for at-risk relatives is an important benefit of diagnosis at the DNA level.
authors.affiliation: Department of Human Genetics, Faculty of Medicine, University of Stellenbosch, Tygerberg, South Africa.
authors.forename: J J
authors.initials: JJ
authors.lastname: Grobbelaar
authors.forename: C J
authors.initials: CJ
authors.lastname: Oosthuizen
authors.forename: M J
authors.initials: MJ
authors.lastname: Kotze
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000175:diagnosis* / Q000235:genetics / Q000517:prevention & control*; D001483:Base Sequence; D003062:Codon; D005260:Female; D017491:Genes, APC; D006801:Humans; D008297:Male; D008403:Mass Screening / Q000379:methods; D008969:Molecular Sequence Data; D010375:Pedigree; D017384:Sequence Deletion; D013019:South Africa
chemical_list: D003062:Codon