The search for mutations in the gene for the beta subunit of the cGMP phosphodiesterase (PDEB) in patients with autosomal recessive retinitis pigmentosa

TY - JOUR

T1 - The search for mutations in the gene for the beta subunit of the cGMP phosphodiesterase (PDEB) in patients with autosomal recessive retinitis pigmentosa

AU - Riess, O

AU - Noerremoelle, A

AU - Weber, B

AU - Musarella, M A

AU - Hayden, M R

N1 - 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

PY - 1992

Y1 - 1992

N2 - 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.

AB - 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.

M3 - Journal article

C2 - 1329504

SN - 0002-9297

VL - 51

SP - 755

EP - 762

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 4

ER -