PRESYMPTOMATIC DIAGNOSIS OF FAMILIAL ADENOMATOUS POLYPOSIS BY BRIDGING DNA MARKERS

Abstract Familial adenomatous polyposis (FAP) is a disorder with autosomal dominant inheritance, which predisposes to colorectal adenocarcinoma. The gene causing the disorder has been assigned to chromosome 5 by means of a polymorphic DNA marker called C11p11. An informative Dutch pedigree showed that two other linked polymorphic DNA markers, Pi227 and YN5.48, closely flank the FAP locus, one on either side. This finding will allow prenatal and presymptomatic diagnosis of FAP, with more than 99.9% reliability in the majority of families, by means of already available markers.