Prenatal exclusion of Norrie's disease.
We report on the use of DNA marker probes and linkage analysis to exclude Norrie's disease in the male fetus of a high risk carrier. There are no clinical markers in females carrying the Norrie's disease gene; thus DNA linkage analysis is an essential technique in the management of families 'at-risk' for this severe ophthalmic disease. The principles of DNA linkage are discussed.
Redmond
R M
RM
Department of Ophthalmology, Queen's University, Belfast.
Graham
C A
CA
Kelly
E D
ED
Coleman
M
M
Nevin
N C
NC
D001766:Blindness / Q000175:diagnosis* / Q000235:genetics; D002874:Chromosome Mapping; D004247:DNA / Q000235:genetics; D015342:DNA Probes; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D008040:Genetic Linkage; D005819:Genetic Markers; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
D015342:DNA Probes; D005819:Genetic Markers; D004247:DNA