A novel mutation (ASn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's eye maculopathy detected by nonradioisotopic SSCP
- Tohoku Univ. of School of Medicine, Sendai (Japan)
Retinitis pigmentosa (RP) is characterized by night blindness, an eventual loss of visual field, a diminished response on the electroretinogram, and pigmentary retinal degeneration. These features are primarily explained by the degeneration of photoreceptors. The recent development of the molecular genetic approach has enabled the identification of genes responsible for parts of autosomal dominant RP (ADRP). Rhodopsin and peripherin/RDS genes, in particular, have been successfully shown to cosegregate with ADRP. The authors, therefore, screened 42 unrelated Japanese patients with ADRP to search for mutations in the peripherin/RDS gene. The method we employed for screening was a nonradioisotopic modification of single-strand conformation polymorphism. Among 42 unrelated patients with ADRP, the DNA from one patient (SY) showed an abnormal pattern in exon 2 on SSCP. The DNA fragments were then amplified from affected and nonaffected members of the same family as SY. The alteration in the DNA sequence that was commonly found in the affected members of the family was identified as a heterozygous transversional change of C to A at the third nucleotide in codon 244, resulting in the amino acid replacement of asparagine residue with lysine residue. None of unaffected family members or 30 normal control individuals had this alteration.
- OSTI ID:
- 6822357
- Journal Information:
- Genomics; (United States), Vol. 20:1; ISSN 0888-7543
- Country of Publication:
- United States
- Language:
- English
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GENE MUTATIONS
DETECTION
RETINA
HEREDITARY DISEASES
DNA HYBRIDIZATION
DNA SEQUENCING
DNA-CLONING
POLYMERASE CHAIN REACTION
BODY
BODY AREAS
CLONING
DISEASES
EYES
FACE
GENE AMPLIFICATION
HEAD
HYBRIDIZATION
MUTATIONS
ORGANS
SENSE ORGANS
STRUCTURAL CHEMICAL ANALYSIS
550400* - Genetics