Article
DNA analysis and recombination in X-linked retinitis pigmentosa.
Eye (London, England) - 1 Jan 1990
Redmond R M, Graham C A, Craig I W, Nevin N C, Archer D B
Abstract excerpt
X-linked retinitis pigmentosa is a hereditary retinal degenerative disorder which has been localised to the proximal short arm of the X chromosome. Recent evidence suggests that the disorder is heterogeneous with two possible loci for the disease mutation. DNA analysis on the family presented in this paper showed that the mutation mapped to the more telomeric locus (RP3), thus enabling two flanking polymorphic...
Topics
- Adult
- Alleles
- Chromosome Mapping
- DNA
- DNA Probes
- Female
- Genetic Carrier Screening
- Genetic Linkage
- Humans
- Male
- Pedigree
- Polymorphism, Restriction Fragment Length