Mapping of a congenital microcoria locus to 13q31-q32.
other · Level V
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- Record sourced from PubMed, PMID 9545411.
- Also identified by PMC identifier 1377098.
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Abstract
Congenital microcoria is an autosomal dominant disorder characterized by a pupil with a diameter <2 mm. It is thought to be due to a maldevelopment of the dilator pupillae muscle of the iris, and it is associated with juvenile-onset glaucoma. A total genome search for the location of the congenital microcoria gene was launched in a single large family. We found linkage between the disease and markers located on 13q31-q32 (Zmax = 9.79; theta = 0). Haplotype analysis narrowed the linked region to an interval <8 cM between markers D13S1239 proximally and D13S1280 distally.
Medical subject headings
- Chromosomes, Human, Pair 13
- Iris