The search for mutations in the gene for the beta subunit of the cGMP phosphodiesterase (PDEB) in patients with autosomal recessive retinitis pigmentosa
Research output: Contribution to journal › Journal article › Research › peer-review
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.
Original language | English |
---|---|
Journal | American Journal of Human Genetics |
Volume | 51 |
Issue number | 4 |
Pages (from-to) | 755-62 |
Number of pages | 7 |
ISSN | 0002-9297 |
Publication status | Published - 1992 |
Bibliographical note
Keywords: 3',5'-Cyclic-GMP Phosphodiesterases; Alleles; Amino Acid Sequence; Base Sequence; Cloning, Molecular; DNA; Exons; Female; Genes, Recessive; Humans; Introns; Macromolecular Substances; Male; Molecular Sequence Data; Mutation; Oligodeoxyribonucleotides; Pedigree; Polymerase Chain Reaction; Polymorphism, Genetic; Restriction Mapping; Retinitis Pigmentosa
ID: 10115365