Autosomal dominant exudative vitreoretinopathy: linkage analysis and its clinical application.
Close linkage without recombination (Zmax = 7.383 at Theta = 0.00) was found between the locus for autosomal dominant exudative vitreoretinopathy (Criswick-Schepens) and the locus D11S388 in 11q14.3-q21. We report on the application of data from linkage studies in the diagnostic management of this disease. To determine the disease risk for two newborn children of two affected mothers more precisely, indirect genotype analysis was performed by typing their DNA for three DNA polymorphisms, the loci of which have been shown to be closely linked to the locus of autosomal dominant exudative vitreoretinopathy.
Fuhrmann
C
C
Klinik für Augenheilkunde, Medizinische Universität zu Lübeck, Germany.
Duvigneau
C
C
Müller
B
B
Schwinger
E
E
Julier
C
C
Laqua
H
H
Gal
A
A
D000328:Adult; D002648:Child; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D004247:DNA / Q000032:analysis; D005122:Exudates and Transudates; D005260:Female; D006580:Genetic Carrier Screening; D008040:Genetic Linkage / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D008126:Lod Score; D008297:Male; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D018630:Vitreoretinopathy, Proliferative / Q000235:genetics*
D004247:DNA