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RESEARCH PRODUCT
An autosomal dominant retinitis pigmentosa family with close linkage to D7S480 on 7q.
Félix PrietoConcha VilelaJm MillánC. NájeraFrancisco MartínezMagdalena Beneytosubject
Genetic MarkersMaleCandidate genecongenital hereditary and neonatal diseases and abnormalitiesgenetic structuresBiologyAutosomal dominant retinitis pigmentosaGene mappingRetinitis pigmentosaGeneticsmedicineHumansGeneGenetics (clinical)Genes DominantLinkage (software)GeneticsChromosome Mappingmedicine.diseaseHuman geneticseye diseasesPedigreeGenetic markerFemaleLod ScoreChromosomes Human Pair 7Retinitis Pigmentosadescription
Retinitis pigmentosa is the most prevalent inherited disorder of the retina. It can be autosomal dominant (adRP), autosomal recessive (arRP) or X-linked (XLRP). A form of adRP mapping to chromosome 7q was reported in a large Spanish pedigree. We have typed DNA from the members of another Spanish family for polymorphic markers from the known candidate genes. Positive lod scores were obtained only for the markers located on 7q31-35, giving a maximum lod score of 2.98 (3.01 by multipoint analysis) at theta = 0.00 for D7S480. A brief clinical evaluation is given.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 1995-08-01 | Human genetics |