Molecular analysis and genetic mapping of the rhodopsin gene in families with autosomal dominant retinitis pigmentosa

Journal Article · Thu Jul 01 00:00:00 EDT 1993 · Genomics; (United States)

DOI:https://doi.org/10.1006/geno.1993.1309· OSTI ID:6955631

Bunge, S; Wedemann, H; Samanns, C; Horn, M; Schwinger, E; Gal, A ^[1]; David, D ^[2]; Terwilliger, D J; Ott, J ^[3]; Born, L.I. van den ^[4]

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1. Medizinische Universitaet zu Luebeck (Germany)
2. Laboratorio de Genetica Humana, Lisbon (Portugal)
3. Columbia Univ., New York, NY (United States)
4. The Netherlands Ophthalmic Research Institute, Amsterdam (Netherlands); and others

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 ([theta][sub 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. 13 refs., 1 fig., 2 tabs.

• OSTI ID: 6955631
• Journal Information: Genomics; (United States), Vol. 17:1; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
HUMAN CHROMOSOME 3
GENETIC MAPPING
RETINA
HEREDITARY DISEASES
RHODOPSIN
GENE MUTATIONS
BODY
BODY AREAS
CHROMOSOMES
DISEASES
EYES
FACE
HEAD
HUMAN CHROMOSOMES
MAPPING
MUTATIONS
ORGANIC COMPOUNDS
ORGANS
PIGMENTS
PROTEINS
SENSE ORGANS
550400* - Genetics