Mapping of a congenital microcoria locus to 13q31-q32. |
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| Authors: | C Rouillac O Roche D Marchant L Bachner A Kobetz P J Toulemont C Orssaud M Urvoy S Odent B Le Marec M Abitbol J L Dufier |
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| Affiliation: | Centre de Recherches Thérapeutiques en Ophtalmologie (CERTO), Faculté de Médecine Necker, Paris, France. |
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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. |
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