Screening of the PDE6B gene in patients with autosomal dominant retinitis pigmentosa
| Autor: | Michael Danciger, Samuel G. Jacobson, Dan Yun Zhao, John Blaney, Natik I. Piriev, Jennifer Shih, John H. Heckenlively, Debora B. Farber, Yong Qing Gao |
|---|---|
| Rok vydání: | 1996 |
| Předmět: |
Untranslated region
Proband RNA Splicing Molecular Sequence Data Gene Expression Biology medicine.disease_cause Cellular and Molecular Neuroscience Exon PDE6B 3' 5'-Cyclic-GMP Phosphodiesterases Retinitis pigmentosa medicine Humans Gene DNA Primers Genes Dominant Genetics Mutation Cyclic Nucleotide Phosphodiesterases Type 6 Base Sequence Phosphoric Diester Hydrolases Intron Genetic Variation Exons medicine.disease Blotting Northern Molecular biology Sensory Systems Introns Ophthalmology Retinitis Pigmentosa |
| Zdroj: | Experimental eye research. 62(2) |
| ISSN: | 0014-4835 |
| Popis: | Each of the 22 exons and 140bp of the 5′ untranslated region of the gene encoding the β-subunit of cGMP-phosphodiesterase (PDE6B) were screened by denaturing gradient gel electrophoresis for mutations in the DNAs of 54 unrelated individuals with autosomal dominant retinitis pigmentosa. Six different sequence variants were found in seven patients. Four of the sequence variants did not segregate with disease in the families of the respective probands and/or were present in control DNAs. The remaining two sequence variants, a Leu228His missense in exon 3 and a G to A transition in the tenth base of the splice acceptor site of intron 8, were both present in the same proband. One or the other of the two sequence variants was present in each affected member of the proband's small family and neither sequence variant was present in the one unaffected member nor in 75 unrelated controls. However, no effect on splicing of mRNA was observed in expression studies of DNA constructs containing the G to A transition. Therefore, mutations in PDE6B could not be shown to be the cause of adRP in this group of patients. |
| Databáze: | OpenAIRE |
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