THE SEARCH FOR MUTATIONS IN THE GENE FOR THE BETA-SUBUNIT OF THE CGMP PHOSPHODIESTERASE (PDEB) IN PATIENTS WITH AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA
- 1 October 1992
- journal article
- research article
- Vol. 51 (4) , 755-762
Abstract
The finding of a mutation in the beta subunit of the cyclic GMP (cGMP) phosphodiesterase gene causing retinal degeneration in mice (the Pdeb gene) prompted a search for disease-causing mutations in the human phosphodiesterase gene (PDEB gene) in patients with retinitis pigmentosa. All 22 exons including 196 bp of the 5' region of the PDEB gene have been assessed for mutations by using single-strand conformational polymorphism analysis in 14 patients from 13 unrelated families with autosomal recessive retinitis pigmentosa (ARRP). No disease-causing mutations were found in this group of affected individuals of seven different ancestries. However, a frequent intronic and two exonic polymorphisms (Leu489 --> Gln and Gly842 --> Gly) were identified. Segregation analysis using these polymorphic sites excludes linkage of ARRP to the PDEB gene in a family with two affected children.This publication has 37 references indexed in Scilit:
- Detection of specific sequences among DNA fragments separated by gel electrophoresisPublished by Elsevier ,2006
- The human β-subunit of rod photoreceptor cGMP phosphodiesterase: Complete retinal cDNA sequence and evidence for expression in brainGenomics, 1992
- Exclusion of DNA changes in the β–subunit of the c–GMP phosphodiesterase gene as the cause for Huntington's diseaseNature Genetics, 1992
- Autosomal dominant retinitis pigmentosa: Localization of a disease gene (RP6) to the short arm of chromosome 6Genomics, 1991
- Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8Genomics, 1991
- A three-base-pair deletion in the peripherin–RDS gene in one form of retinitis pigmentosaNature, 1991
- Gene of type II autosomal dominant retinitis pigmentosa maps on the long arm of chromosome 3American Journal of Medical Genetics, 1990
- Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.Proceedings of the National Academy of Sciences, 1989
- Linkage analysis of human chromosome 4: exclusion of autosomal dominant retinitis pigmentosa (ADRP) and detection of new linkage groupsCytogenetic and Genome Research, 1989
- A study of retinitis pigmentosa in the City of Birmingham. I Prevalence.Journal of Medical Genetics, 1984