Mapping the locus of atrophia areata, a helicoid peripapillary chorioretinal degeneration with autosomal dominant inheritance, to chromosome 11p15
| Autor: | James L. Weber, Ragnheidur Fossdal, Loftur Magnússon, Ólafur Jensson |
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| Rok vydání: | 1995 |
| Předmět: |
Genetic Markers
Male Choroiditis Genetic Linkage Eye disease Iceland Optic disk Locus (genetics) DNA Satellite Biology White People Gene mapping Genetic linkage Genetics medicine Humans Molecular Biology Genetics (clinical) Chromosomes Human Pair 11 Retinal Degeneration Helicoid peripapillary chorioretinal degeneration Chromosome Mapping Chromosome General Medicine medicine.disease eye diseases Pedigree Ophthalmoscopy Genetic marker Female |
| Zdroj: | Human Molecular Genetics. 4:479-483 |
| ISSN: | 1460-2083 0964-6906 |
| Popis: | Atrophia areata (AA) is an early onset autosomal dominant helicoid peripapillary chorioretinal degeneration, which was first demonstrated to be hereditary in an Icelandic family. It is characterized by bilateral wing-shaped atrophic areas of the retina, radiating from the optic disk. Primary complaints of affected individuals are due to refractive errors and scotomata associated with myopia which increases with age. A genome linkage search with 112 microsatellite DNA markers resulted in the highest probability of location for AA on chromosome 11. We genotyped 18 polymorphic markers on chromosome 11 and seven showed significant linkage to AA. The markers D11S1323 and D11S902 on 11p15 flank the region encompassing the gene for AA. |
| Databáze: | OpenAIRE |
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