Aland eye disease: linkage data.

Abstract

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.

• Authors: M Schwartz, T Rosenberg
• Journal: Genomics (Genomics) Vol. 10 Issue 2 Pg. 327-32 (Jun 1991) ISSN: 0888-7543 [Print] United States
• PMID: 2071141 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• DNA Probes

Topics

• DNA Probes
• Eye Diseases (genetics)
• Female
• Genetic Linkage
• Humans
• Lod Score
• Male
• Night Blindness (genetics)
• Pedigree
• Polymorphism, Genetic
• Syndrome
• X Chromosome