Multipoint linkage analysis and soneogeneity tests in 15 Dutch X-linked retinitis pigmentosa families
| Autor: | Lodewijk A. Sandkuijl, Alfred J. L. G. Pinckers, E. J. M. Schuurman, L. I. van den Born, G.J.B. van Ommen, E M Bleekers-Wagemakers, A. A. B. Bergen |
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| Přispěvatelé: | Other departments |
| Jazyk: | angličtina |
| Rok vydání: | 1995 |
| Předmět: |
Genetic Markers
Male X Chromosome Adolescent Genetic Linkage Locus (genetics) Retinal disorders Biology Polymerase Chain Reaction Netvliesaandoeningen Genetic Heterogeneity Gene mapping Genetic linkage Retinitis pigmentosa medicine Humans Gene Genetics (clinical) X chromosome Netherlands Genetics Genetic heterogeneity Chromosome Mapping DNA medicine.disease Pedigree Ophthalmology Genetic marker Pediatrics Perinatology and Child Health Female DNA Probes Retinitis Pigmentosa |
| Zdroj: | Ophthalmic Paediatrics and Genetics, 16, 63-70 Ophthalmic Paediatrics and Genetics, 16, pp. 63-70 Ophthalmic genetics, 16(2), 63-70. Taylor and Francis Ltd. |
| ISSN: | 0167-6784 1381-6810 |
| Popis: | Linkage analysis and homogeneity tests were carried out in 15 Dutch families segregating X-linked retinitis pigmentosa (X L R P). The study included segregation data for eight polymorphic DNA markers from the short arm of the human X chromosome. The results of both multipoint linkage analysis in individual families and heterogeneity analysis support the view that there are only two X L R P loci on the short arm of the human X chromosome, with one locus near the OTC gene and one in the vicinity of DXS255. Furthermore, our data confirm the hypothesis that a tapetal reflex in female carriers can be observed more frequently, if not exclusively, in X L R P families of the R P 3 type. |
| Databáze: | OpenAIRE |
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