The survival probability for critical spread-out oriented percolation above 4+1 dimensions. II. Expansion

Article / Letter to editorMathematisch Instituu

Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family

Contains fulltext : 108199.pdf (publisher's version ) (Open Access)PURPOSE: The purpose of this study was to identify the underlying molecular genetic defect in an Indonesian family with three affected individuals who had received a diagnosis of retinitis pigmentosa (RP). METHODS: Clinical evaluation of the family members included measuring visual acuity and fundoscopy, and assessing visual field and color vision. Genomic DNA of the three affected individuals was analyzed with Illumina 700k single nucleotide polymorphism (SNP) arrays, and homozygous regions were identified using PLINK software. Mutation analysis was performed with sequence analysis of the retinitis pigmentosa 1 (RP1) gene that resided in one of the homozygous regions. The frequency of the identified mutation in the Indonesian population was determined with TaqI restriction fragment length polymorphism analysis. RESULTS: A novel homozygous nonsense mutation in exon 4 of the RP1 gene, c.1012C>T (p.R338*), was identified in the proband and her two affected sisters. Unaffected family members either carried two wild-type alleles or were heterozygous carriers of the mutation. The mutation was not present in 184 Indonesian control samples. CONCLUSIONS: Most of the previously reported RP1 mutations are inherited in an autosomal dominant mode, and appear to cluster in exon 4. Here, we identified a novel homozygous p.R338* mutation in exon 4 of RP1, and speculate on the mutational mechanisms of different RP1 mutations underlying dominant and recessive RP

Effect of dietary a-tocopherol and corn oil on the performance and on the lipoproteins, lipids, cholesterol and a-tocopherol concentrations of the plasma and eggs of laying hens

The effects of adding a-tocopherol (0, 30mg/kg) and corn oil (0, 25g/kg) on the performance and on yolk cholesterol, fatty acid and a-tocopherol and plasma lipids, lipoproteins and a-tocopherol concentrations of laying hens were studied for 12 weeks. Dietary supplement did not significantly affect the performance of laying hens, daily cholesterol output, yolk linolenic acid and cholesterol concentrations, concentration of lipids or lipoproteins in plasma, of birds. Hens fed on a. diet supplemented with a-tocopherol had, higher plasma and egg yolk concentrations of a-tocopherol and percentage of plasma a-tocopherol in the very low density lipoprotein. Hens fed, a. diet supplemented, with corn oil produced eggs with a high concentra tion of stearic, linoleic and arachid.onic acids. Neither the composition of the plasma lipoproteins nor the cholesterol concentration of eggs was affected, by dietary supplements