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Title: Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa

Abstract

We have studied 24 small families with presumed autosomal recessive inheritance of retinitis pigmentosa by a combination of haplotype analysis and exon screening. Initial analysis of the families was made with a dinucleotide repeat polymorphism adjacent to the gene for rod cGMP-phosphodiesterase (PDE6B). This was followed by denaturing gradient gel electrophoresis (DGGE) and single-strand conformation polymorphism electrophoresis (SSCPE) of the 22 exons and a portion of the 5{prime} untranslated region of the PDE6B gene in the probands of each family in which the PDE6B locus could not be ruled out from segregating with disease. Two probands were found with compound heterozygous mutations: Gly576Asp and His620(1-bp del) mutations were present in one proband, and a Lys706X null mutation and an AG to AT splice acceptor site mutation in intron 2 were present in the other. Only the affecteds of each of the two families carried both corresponding mutations. 29 refs., 3 figs., 1 tab.

Authors:
; ; ;  [1]
  1. Univ. of California, Los Angeles, CA (United States); and others
Publication Date:
Sponsoring Org.:
USDOE
OSTI Identifier:
273480
Resource Type:
Journal Article
Journal Name:
Genomics
Additional Journal Information:
Journal Volume: 30; Journal Issue: 1; Other Information: PBD: 1 Nov 1995
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; GENES; GENE MUTATIONS; SPLICING; DNA SEQUENCING; SCREENING; PATIENTS; PHENOTYPE; SENSE ORGANS DISEASES; HEREDITARY DISEASES; RECESSIVE MUTATIONS; GENETICS; ELECTROPHORESIS; EXONS; AMINO ACIDS; INTRONS

Citation Formats

Danciger, M, Blaney, J, Gao, Y Q, and Zhao, D Y. Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa. United States: N. p., 1995. Web. doi:10.1006/geno.1995.0001.
Danciger, M, Blaney, J, Gao, Y Q, & Zhao, D Y. Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa. United States. https://doi.org/10.1006/geno.1995.0001
Danciger, M, Blaney, J, Gao, Y Q, and Zhao, D Y. 1995. "Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa". United States. https://doi.org/10.1006/geno.1995.0001.
@article{osti_273480,
title = {Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa},
author = {Danciger, M and Blaney, J and Gao, Y Q and Zhao, D Y},
abstractNote = {We have studied 24 small families with presumed autosomal recessive inheritance of retinitis pigmentosa by a combination of haplotype analysis and exon screening. Initial analysis of the families was made with a dinucleotide repeat polymorphism adjacent to the gene for rod cGMP-phosphodiesterase (PDE6B). This was followed by denaturing gradient gel electrophoresis (DGGE) and single-strand conformation polymorphism electrophoresis (SSCPE) of the 22 exons and a portion of the 5{prime} untranslated region of the PDE6B gene in the probands of each family in which the PDE6B locus could not be ruled out from segregating with disease. Two probands were found with compound heterozygous mutations: Gly576Asp and His620(1-bp del) mutations were present in one proband, and a Lys706X null mutation and an AG to AT splice acceptor site mutation in intron 2 were present in the other. Only the affecteds of each of the two families carried both corresponding mutations. 29 refs., 3 figs., 1 tab.},
doi = {10.1006/geno.1995.0001},
url = {https://www.osti.gov/biblio/273480}, journal = {Genomics},
number = 1,
volume = 30,
place = {United States},
year = {Wed Nov 01 00:00:00 EST 1995},
month = {Wed Nov 01 00:00:00 EST 1995}
}