Autosomal dominant retinitis pigmentosa: A novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree

Using single-strand conformation polymorphism electrophoresis, heteroduplex analysis, and direct sequencing, we have searched for possible disease-causing mutations in the adRP family in which we originally found tight linkage of the disease to 6p. We have now identified a single base change in exon...

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Published inGenomics (San Diego, Calif.) Vol. 14; no. 3; pp. 805 - 807
Main Authors Jane Farrar, G., Kenna, Paul, Jordan, Siobhán A., Kumar-Singh, Rajendra, Humphries, Marian M., Sharp, Elizabeth M., Sheils, Denise, Humphries, Peter
Format Journal Article
LanguageEnglish
Published San Diego, CA Elsevier Inc 01.11.1992
Elsevier
Subjects
Amino Acid Sequence
Base Sequence
Biological and medical sciences
Chromosomes, Human, Pair 6
DNA, Single-Stranded
Genes, Dominant
Genetic Linkage
Humans
Intermediate Filament Proteins - genetics
Medical sciences
Membrane Glycoproteins
Molecular Sequence Data
Mutation
Nerve Tissue Proteins
Ophthalmology
Pedigree
Peripherins
Retinitis Pigmentosa - genetics
Retinopathies
Rhodopsin - genetics
Human
Eye disease
Retinopathy
Retinitis pigmentosa
Photoreceptor
C6-Chromosome
Mutation
Genetic disease
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Summary:Using single-strand conformation polymorphism electrophoresis, heteroduplex analysis, and direct sequencing, we have searched for possible disease-causing mutations in the adRP family in which we originally found tight linkage of the disease to 6p. We have now identified a single base change in exon 2, which results in the replacement of a serine residue at codon 212 for a glycine residue. The mutation cosegregates with the disease with a lod score of 12.1 at θ = 0.0.
Bibliography:ObjectType-Article-2
SourceType-Scholarly Journals-1
ObjectType-Feature-1
content type line 23
ISSN:0888-7543
1089-8646
DOI:10.1016/S0888-7543(05)80193-4