Presymptomatic diagnosis of familial adenomatous polyposis by bridging DNA markers.
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.
Tops
C M
CM
Human Genetics Institute, Sylvius Laboratory, University of Leiden, The Netherlands.
Wijnen
J T
JT
Griffioen
G
G
von Leeuwen
I S
IS
Vasen
H F
HF
den Hartog Jager
F C
FC
Breukel
C
C
Nagengast
F M
FM
van der Klift
H M
HM
Lamers
C B
CB
D011125:Adenomatous Polyposis Coli / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D002874:Chromosome Mapping; D002895:Chromosomes, Human, Pair 5; D005819:Genetic Markers; D006801:Humans; D008126:Lod Score; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D011995:Recombination, Genetic
D005819:Genetic Markers