Cornea plana congenita gene assigned to the long arm of chromosome 12 by linkage analysis. 1995

E Tahvanainen, and H Forsius, and E Karila, and S Ranta, and M Eerola, and J Weissenbach, and P Sistonen, and A de la Chapelle
Department of Medical Genetics, University of Helsinki, Finland.

We report the mapping of the locus for autosomal recessive cornea plana congenita (CNA2; MIM 217300) by linkage analysis to the approximately 10-cM interval between markers D12S82 and D12S327. The recessively inherited disorder studied here is more severe than dominant forms. Its main manifestations are reduced curvature and hazy limbus of the cornea, opacities in the corneal stroma, and marked corneal arcus at early age. Our results provide a starting point for the positional cloning of CNA2 and the elucidation of the pathogenesis of the disease.

UI MeSH Term Description Entries
D008126 Lod Score The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds." Lod Scores,Score, Lod,Scores, Lod
D008297 Male Males
D011995 Recombination, Genetic Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses. Genetic Recombination,Recombination,Genetic Recombinations,Recombinations,Recombinations, Genetic
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002874 Chromosome Mapping Any method used for determining the location of and relative distances between genes on a chromosome. Gene Mapping,Linkage Mapping,Genome Mapping,Chromosome Mappings,Gene Mappings,Genome Mappings,Linkage Mappings,Mapping, Chromosome,Mapping, Gene,Mapping, Genome,Mapping, Linkage,Mappings, Chromosome,Mappings, Gene,Mappings, Genome,Mappings, Linkage
D002881 Chromosomes, Human, Pair 12 A specific pair of GROUP C CHROMOSOMES of the human chromosome classification. Chromosome 12
D003315 Cornea The transparent anterior portion of the fibrous coat of the eye consisting of five layers: stratified squamous CORNEAL EPITHELIUM; BOWMAN MEMBRANE; CORNEAL STROMA; DESCEMET MEMBRANE; and mesenchymal CORNEAL ENDOTHELIUM. It serves as the first refracting medium of the eye. It is structurally continuous with the SCLERA, avascular, receiving its nourishment by permeation through spaces between the lamellae, and is innervated by the ophthalmic division of the TRIGEMINAL NERVE via the ciliary nerves and those of the surrounding conjunctiva which together form plexuses. (Cline et al., Dictionary of Visual Science, 4th ed) Corneas
D003317 Corneal Dystrophies, Hereditary Bilateral hereditary disorders of the cornea, usually autosomal dominant, which may be present at birth but more frequently develop during adolescence and progress slowly throughout life. Central macular dystrophy is transmitted as an autosomal recessive defect. Corneal Dystrophies,Granular Dystrophy, Corneal,Groenouw's Dystrophies,Macular Dystrophy, Corneal,Stromal Dystrophies, Corneal,Corneal Dystrophy,Corneal Dystrophy, Hereditary,Corneal Granular Dystrophies,Corneal Granular Dystrophy,Corneal Macular Dystrophies,Corneal Macular Dystrophy,Corneal Stromal Dystrophies,Corneal Stromal Dystrophy,Dystrophy, Corneal,Dystrophy, Corneal Granular,Dystrophy, Corneal Macular,Dystrophy, Corneal Stromal,Dystrophy, Hereditary Corneal,Groenouw Dystrophies,Groenouws Dystrophies,Hereditary Corneal Dystrophies,Hereditary Corneal Dystrophy,Stromal Dystrophy, Corneal
D005260 Female Females
D005387 Finland A country in northern Europe, bordering the Baltic Sea, Gulf of Bothnia, and Gulf of Finland, between Sweden and Russia. The capital is Helsinki. Aland Islands,Ă…land Islands

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