Article
Assignment of a gene for autosomal recessive retinitis pigmentosa (RP12) to chromosome 1q31-q32.1 in an inbred and genetically heterogeneous disease population.
Genomics - 1 Aug 1994
van Soest S, van den Born L I, Gal A, Farrar G J, Bleeker-Wagemakers L M, Westerveld A, Humphries P, Sandkuijl L A, Bergen A A
Abstract excerpt
Linkage analysis was carried out in a large family segregating for autosomal recessive retinitis pigmentosa (arRP), originating from a genetically isolated population in The Netherlands. Within the family, clinical heterogeneity was observed, with a major section of the family segregating arRP with characteristic para-arteriolar preservation of the retinal pigment epithelium (PPRPE). In the remainder of the...
Topics
- Adult
- Animals
- Chromosome Mapping
- Chromosomes, Human, Pair 1
- Consanguinity
- Disease Models, Animal
- Female
- Founder Effect
- Genes, Recessive
- Genetic Linkage