Aland eye disease: linkage data.
A large Danish family with Aland Island eye disease (AIED) was studied by linkage analysis using 16 polymorphic DNA markers covering the whole X chromosome. Positive lod scores were found for marker loci at the proximal part of the short arm of the X chromosome, DXS255 and TIMP (Zmax = 3.93 and 3.18 at theta = 0.0), suggesting an assignment of the locus for AIED to this part of the X chromosome. Recombination was observed with the locus DXS7 as well as with other loci distal to DXS7. These results are not in agreement with the deletion presented previously by D-A. M. Pillers et al. (1990, Am. J. Med. Genet. 36: 23-28), which mapped AIED to Xp21.
Schwartz
M
M
Department of Pediatrics, University Hospital, Copenhagen, Denmark.
Rosenberg
T
T
D015342:DNA Probes; D005128:Eye Diseases / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008126:Lod Score; D008297:Male; D009755:Night Blindness / Q000235:genetics; D010375:Pedigree; D011110:Polymorphism, Genetic; D013577:Syndrome; D014960:X Chromosome
D015342:DNA Probes