Exclusion of chromosome 6 and 8 locations in nonrhodopsin autosomal dominant retinitis pigmentosa families: further locus heterogeneity in adRP
| Autor: | SA Carter, AM Stephenson, Ss Papiha, A Jackson, C. F. Inglehearn, T J Keen, Ss Bhattacharya, U Atif, A C Bird, Janet C. Lindsey, R. Bashir, Marcelle Jay |
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| Rok vydání: | 1992 |
| Předmět: |
Retinal degeneration
Genetics Genetic Markers congenital hereditary and neonatal diseases and abnormalities Genetic heterogeneity Genetic Linkage Chromosome Mapping Locus (genetics) Biology medicine.disease eye diseases Gene mapping Genetic marker Locus heterogeneity Genetic linkage Retinitis pigmentosa medicine Humans Chromosomes Human Pair 6 Crossing Over Genetic Lod Score Retinitis Pigmentosa Chromosomes Human Pair 8 Genes Dominant |
| Zdroj: | Genomics. 14(1) |
| ISSN: | 0888-7543 |
| Popis: | Genetic studies have revealed that 25 to 30% of autosomal dominant retinitis pigmentosa (adRP) families have mutations in the rhodopsin gene, while the remainder do not. More recently linkage data and mutation detection have demonstrated two further loci implicated in adRP, at an as yet unidentified gene on chromosome 8p and at the human gene homologue of the mouse Rds (Retinal Degeneration Slow) gene on chromosome 6p. We have previously reported exclusion of adRP from the rhodopsin locus on 3q in two large adRP families. We now report exclusion data for both families, on chromosomes 6 and 8, demonstrating that the adRP phenotype results from mutations in at least four locations. |
| Databáze: | OpenAIRE |
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