Rhodopsin mutations in autosomal dominant retinitis pigmentosa.
نویسندگان
چکیده
منابع مشابه
Rhodopsin mutations in autosomal dominant retinitis pigmentosa.
DNA samples from 161 unrelated patients with autosomal dominant retinitis pigmentosa were screened for point mutations in the rhodopsin gene by using the polymerase chain reaction and denaturing gradient gel electrophoresis. Thirty-nine patients were found to carry 1 of 13 different point mutations at 12 amino acid positions. The presence or absence of the mutations correlated with the presence...
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Retinitis pigmentosa (RP), a disease characterized by progressive loss of photoreceptors, exhibits significant genetic heterogeneity. Several genes associated with U4/U6-U5 triple small nuclear ribonucleoprotein (tri-snRNP) complex of the spliceosome have been implicated in autosomal dominant RP (adRP). HPrp4, encoded by PRPF4, regulates the stability of U4/U6 di-snRNP, which is essential for c...
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Retinitis pigmentosa (RP) shows progressive loss of photoreceptors involved with heterogeneous genetic background. Here, by exome sequencing and linkage analysis on a Chinese family with autosomal dominant RP, we identified a putative pathogenic variant, p.Gly97Arg, in the gene SPP2, of which expression was detected in multiple tissues including retina. The p.Gly97Arg was absent in 800 ethnical...
متن کاملNovel rhodopsin mutations Gly114Val and Gln184Pro in dominant retinitis pigmentosa.
PURPOSE To identify mutations in the rhodopsin gene in North American patients with autosomal dominant retinitis pigmentosa (ADRP) and to measure the proportion of cases with rhodopsin mutations. METHODS Single-strand conformation polymorphism (SSCP) analysis and direct genomic sequencing were used to evaluate the coding region and intron splice sites of the rhodopsin gene for mutations in 91...
متن کاملNovel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosa.
AIM To identify novel or rare rhodopsin gene mutations in patients with autosomal dominant retinitis pigmentosa and description of their clinical phenotype. METHODS The complete rhodopsin gene was screened for mutations by DNA sequencing in index patients. Mutation specific assays were used for segregation analysis and screening for controls. Eight patients from five families and their relati...
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ژورنال
عنوان ژورنال: Proceedings of the National Academy of Sciences
سال: 1991
ISSN: 0027-8424,1091-6490
DOI: 10.1073/pnas.88.15.6481