Linked DNA markers for presymptomatic diagnosis of familial adenomatous polyposis.
41 symptom-free individuals aged 0-39 years who were at risk of familial adenomatous polyposis (FAP) were genotyped with six linked DNA probes. 28 individuals were informative for probes flanking the gene and 14 people assigned a probe-derived risk of over 0.93 were subsequently shown to be affected by clinical screening. 4 individuals who had been discharged from follow-up were designated high risk by this method. In those screened negative, risk was calculated from genotypic, colonic, and CHRPE findings and 89% of subjects had a risk below 0.003. An integrated risk analysis may have an important place in screening programmes for FAP.
Dunlop
M G
MG
University of Edinburgh Department of Clinical Surgery, UK.
Wyllie
A H
AH
Steel
C M
CM
Piris
J
J
Evans
H J
HJ
D011125:Adenomatous Polyposis Coli / Q000175:diagnosis / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D015342:DNA Probes; D005069:Evaluation Studies as Topic; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D011995:Recombination, Genetic; D012168:Retinal Pigments / Q000235:genetics; D012307:Risk Factors
D015342:DNA Probes; D012168:Retinal Pigments