Molecular Analysis and Genetic Mapping of the Rhodopsin Gene in Families with Autosomal Dominant Retinitis Pigmentosa

Eighty-eight patients/families with autosomal dominant retinitis pigmentosa (RP) were screened for rhodopsin mutations. Direct sequencing revealed 13 different mutations in a total of 14 (i.e., 16%) unrelated patients. Five of these mutations (T4K, Q28H, R135G, F220C, and C222R) have not been report...

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Published inGenomics (San Diego, Calif.) Vol. 17; no. 1; pp. 230 - 233
Main Authors Bunge, S., Wedemann, H., David, D., Terwilliger, D.J., van den Born, L.I., Aulehla-Scholz, C., Samanns, C., Horn, M., Ott, J., Schwinger, E., Schinzel, A., Denton, M.J., Gal, A.
Format Journal Article
LanguageEnglish
Published San Diego, CA Elsevier Inc 01.07.1993
Elsevier
Subjects
550400 - Genetics
Australia
Base Sequence
BASIC BIOLOGICAL SCIENCES
Biological and medical sciences
BODY
BODY AREAS
CHROMOSOMES
DISEASES
DNA Mutational Analysis
Europe
EYES
FACE
GENE MUTATIONS
Genes
Genes, Dominant
Genetic Linkage
GENETIC MAPPING
Genetic Testing
HEAD
HEREDITARY DISEASES
HUMAN CHROMOSOME 3
HUMAN CHROMOSOMES
Humans
MAPPING
Medical sciences
Molecular Sequence Data
MUTATIONS
Ophthalmology
ORGANIC COMPOUNDS
ORGANS
PIGMENTS
Point Mutation
PROTEINS
RETINA
Retinitis Pigmentosa - genetics
Retinopathies
RHODOPSIN
Rhodopsin - genetics
SENSE ORGANS
Australia
Europe
Genetic mapping
Human
Eye disease
Rhodopsin
Retinopathy
Linkage
Genetic marker
Retinitis pigmentosa
Mutation
Photoprotein
A3-Chromosome
Genetic disease
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Summary:Eighty-eight patients/families with autosomal dominant retinitis pigmentosa (RP) were screened for rhodopsin mutations. Direct sequencing revealed 13 different mutations in a total of 14 (i.e., 16%) unrelated patients. Five of these mutations (T4K, Q28H, R135G, F220C, and C222R) have not been reported so far. In addition, multipoint linkage analysis was performed on two large families with autosomal dominant RP due to rhodopsin mutations by using five DNA probes from 3q21-q24. No tight linkage was found between the rhodopsin locus (RHO) and D3S47 (θ max = 0.08). By six-point analysis, RHO was localized in the region between D3S21 and D3S47, with a maximum lod score of 13.447 directly at D3S20.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
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ISSN:0888-7543
1089-8646
DOI:10.1006/geno.1993.1309