Mapping of a Congenital Microcoria Locus to 13q31-q32

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 congenit...

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Published inAmerican journal of human genetics Vol. 62; no. 5; pp. 1117 - 1122
Main Authors Rouillac, Christelle, Roche, Olivier, Marchant, Dominique, Bachner, Lucien, Kobetz, Alexandra, Toulemont, Pierre-Jean, Orssaud, Christophe, Urvoy, Martine, Odent, Sylvie, Le Marec, Bernard, Abitbol, Marc, Dufier, Jean-Louis
Format Journal Article
LanguageEnglish
Published Chicago, IL Elsevier Inc 01.05.1998
University of Chicago Press
Subjects
Biological and medical sciences
Chromosome Mapping
Chromosomes, Human, Pair 13
Female
Genetic Linkage
Haplotypes
Humans
Iris - abnormalities
Male
Malformations of the eye
Medical sciences
Ophthalmology
Pedigree
Recombination, Genetic
Genetic mapping
Human
Eye disease
Linkage
Family study
Chromosome D13
Congenital disease
Genetic determinism
Haplotype
Microcoria
Genetic disease
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Summary: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 ( Z max = 9.79; θ = 0). Haplotype analysis narrowed the linked region to an interval <8 cM between markers D13S1239 proximally and D13S1280 distally.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
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ISSN:0002-9297
1537-6605
DOI:10.1086/301841