Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa

Journal Article · Wed Nov 01 04:00:00 EST 1995 · Genomics

DOI:https://doi.org/10.1006/geno.1995.0001· OSTI ID:273480

Danciger, M; Blaney, J; Gao, Y Q; Zhao, D Y ^[1]

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1. Univ. of California, Los Angeles, CA (United States); and others

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.

• Sponsoring Organization: USDOE
• OSTI ID: 273480
• Journal Information: Genomics, Journal Name: Genomics Journal Issue: 1 Vol. 30; ISSN 0888-7543; ISSN GNMCEP
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
AMINO ACIDS
DNA SEQUENCING
ELECTROPHORESIS
EXONS
GENE MUTATIONS
GENES
GENETICS
HEREDITARY DISEASES
INTRONS
PATIENTS
PHENOTYPE
RECESSIVE MUTATIONS
SCREENING
SENSE ORGANS DISEASES
SPLICING