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

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[prime] 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 (Leu[sup 489][yields]Gln and Gly[sup 842][yields]Gly) were identified. Segregation analysis using these polymorphic sites excludes linkage of ARRP to the PDEB gene in a family with two affected children. 43 refs., 3 figs., 2 tabs.

Authors:
; ;  [1];  [2];  [3]
  1. (Univ. of British Columbia, Vancouver (Canada))
  2. (Univ. of Copenhagen (Denmark))
  3. (Univ. of Toronto (Canada))
Publication Date:
OSTI Identifier:
5032046
Alternate Identifier(s):
OSTI ID: 5032046
Resource Type:
Journal Article
Resource Relation:
Journal Name: American Journal of Human Genetics; (United States); Journal Volume: 51:4
Country of Publication:
United States
Language:
English
Subject:
59 BASIC BIOLOGICAL SCIENCES; ESTERASES; GENE MUTATIONS; RETINA; HEREDITARY DISEASES; BODY; BODY AREAS; DISEASES; ENZYMES; EYES; FACE; HEAD; HYDROLASES; MUTATIONS; ORGANIC COMPOUNDS; ORGANS; PROTEINS; SENSE ORGANS 550400* -- Genetics

Citation Formats

Riess, O., Weber, B., Hayden, M.R., Noerremoelle, A., and Musarella, M.A. The search for mutations in the gene for the beta subunit of the cGMP phosphodiesterase (PDEB) in patients with autosomal recessive retinitis pigmentosa. United States: N. p., 1992. Web.
Riess, O., Weber, B., Hayden, M.R., Noerremoelle, A., & Musarella, M.A. The search for mutations in the gene for the beta subunit of the cGMP phosphodiesterase (PDEB) in patients with autosomal recessive retinitis pigmentosa. United States.
Riess, O., Weber, B., Hayden, M.R., Noerremoelle, A., and Musarella, M.A. Thu . "The search for mutations in the gene for the beta subunit of the cGMP phosphodiesterase (PDEB) in patients with autosomal recessive retinitis pigmentosa". United States.
@article{osti_5032046,
title = {The search for mutations in the gene for the beta subunit of the cGMP phosphodiesterase (PDEB) in patients with autosomal recessive retinitis pigmentosa},
author = {Riess, O. and Weber, B. and Hayden, M.R. and Noerremoelle, A. and Musarella, M.A.},
abstractNote = {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[prime] 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 (Leu[sup 489][yields]Gln and Gly[sup 842][yields]Gly) were identified. Segregation analysis using these polymorphic sites excludes linkage of ARRP to the PDEB gene in a family with two affected children. 43 refs., 3 figs., 2 tabs.},
doi = {},
journal = {American Journal of Human Genetics; (United States)},
number = ,
volume = 51:4,
place = {United States},
year = {Thu Oct 01 00:00:00 EDT 1992},
month = {Thu Oct 01 00:00:00 EDT 1992}
}