Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis
| Autor: | Poul Kjer, Thomas Rosenberg, Birgit Kjer, Hans Eiberg |
|---|---|
| Rok vydání: | 1994 |
| Předmět: |
Male
genetic structures Genetic Linkage Locus (genetics) DNA Satellite Biology Polymerase Chain Reaction Atrophy Optic Atrophies Hereditary Gene mapping Genetic linkage Genetics medicine Humans Molecular Biology Genetics (clinical) DNA Primers Genes Dominant Repetitive Sequences Nucleic Acid Polymorphism Genetic Chromosome Mapping Chromosome General Medicine medicine.disease eye diseases Pedigree Chromosome 3 Genetic marker Microsatellite Female Chromosomes Human Pair 3 |
| Zdroj: | Human Molecular Genetics. 3:977-980 |
| ISSN: | 1460-2083 0964-6906 |
| DOI: | 10.1093/hmg/3.6.977 |
| Popis: | Dominant optic atrophy, type Kjer (McKusick no. 165500) is an autosomal dominant eye disease. The disease is characterized by moderate to severe visual impairment with an insidious onset during the first decade of life, blue-yellow dyschromatopsia and centrocecal scotoma of varying density. We examined three extended Danish pedigrees using highly informative short tandem repeat polymorphisms and found linkage of the disease gene (OPA1) to a (CA)n dinucleotide repeat polymorphism at locus D3S1314 (Zmax = 10.34 at theta M = F = 0.075). Using two additional chromosome 3 markers we were able to map the OPA1 gene in the region between D3S1314 and D3S1265 (3q28-qter). |
| Databáze: | OpenAIRE |
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