Sorsby's fundus dystrophy is genetically linked to chromosome 22q13–qter
| Autor: | Elizabeth Ives, Bernhard H. F. Weber, Cecil C. Ewing, Werner Wolz, Gudrun Vogt |
|---|---|
| Rok vydání: | 1994 |
| Předmět: |
Genetic Markers
Male genetic structures Genetic Linkage Chromosomes Human Pair 22 Locus (genetics) Biology Macular Degeneration Atrophy Gene mapping Genetic linkage Genetic model Genetics medicine Humans Genes Dominant Macular degeneration medicine.disease eye diseases Pedigree Female sense organs Lod Score Chromosome 22 Retinopathy |
| Zdroj: | Nature Genetics. 7:158-161 |
| ISSN: | 1546-1718 1061-4036 |
| DOI: | 10.1038/ng0694-158 |
| Popis: | Sorsby's fundus dystrophy (SFD) is an autosomal dominant macular degeneration developing in the third or fourth decade. Patients lose central vision from subretinal neovascularization and atrophy of the choriocapillaris, pigment epithelium and retina. SFD shares some striking clinical features with age-related macular degeneration (AMD), the most common cause of blindness in western countries thereby providing a valuable genetic model for AMD. To map the SFD locus, we performed linkage analysis in a single large SFD family. After exclusion of approximately 65% of the autosomal genome, we found significant linkage to several markers from chromosome 22. Recombinant chromosomes sublocalize the SFD gene to 22q13-qter between D22S275 and D22S274. |
| Databáze: | OpenAIRE |
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