Genetic heterogeneity in autosomal dominant pattern dystrophy of the retina

PURPOSE: Mutations in the retinal degeneration slow (RDS)/peripherin gene have been shown to be associated with pattern dystrophy of the retina (PDR) and other retinal dystrophies. The aim of our study was to confirm or exclude the RDS locus and the rhodopsin (RHO) locus as the disease causing locus in a large Swiss family affected with pattern dystrophy of the retina. MATERIALS AND METHODS: A Swiss family with 14 members across 3 generations affected with PDR was examined. Eleven living family members were investigated using 6 markers surrounding the RDS and RHO loci. RESULTS: Linkage to two possible candidate genes, the RDS gene on chromosome 6p and the rhodopsin gene on chromosome 3q, could be excluded. CONCLUSIONS: The family provides evidence for genetic heterogeneity of PDR and is in agreement with heterogeneity in other retinal dystrophies. Further investigations are in progress to map the gene causing PDR in this family

Playing Muller Games in a Hurry

This work studies the following question: can plays in a Muller game be stopped after a finite number of moves and a winner be declared. A criterion to do this is sound if Player 0 wins an infinite-duration Muller game if and only if she wins the finite-duration version. A sound criterion is presented that stops a play after at most 3^n moves, where n is the size of the arena. This improves the bound (n!+1)^n obtained by McNaughton and the bound n!+1 derived from a reduction to parity games

Infection of cattle with Border disease virus by sheep on communal alpine pastures

The purpose of this study was to investigate whether sheep grazing communal alpine pastures with cattle can transmit Border disease virus (BDV) to cattle. A total of 1170 sheep and 923 cattle were tested for BDV using RT-PCR (sheep) and for pestivirus antibodies using an ELISA (cattle), respectively, before being moved to one of 4 pastures (A, B, C and D). Eight sheep from pasture C were viraemic. 396 of 923 cattle examined before the pasture season were seronegative. The latter were re-examined after the pasture season and 99 were seropositive or indeterminate. Antibody specificity was determined in 25 of these using a serum neutralization test (SNT). BDV infection was confirmed in 10 cattle and was considered likely in 8 others. BVDV infection was confirmed in 4 cattle and considered likely in 3 after pasturing. The study has shown that the transmission of BDV from sheep to cattle is possible on communal alpine pastures

A novel complex mutation event in the peripherin/rds gene in a family with retinal pattern dystrophy

Purpose: To report a complex mutation in the peripherin/RDS gene found in a family in whom retinal pattern dystrophy is segregating as an autosomal dominant trait. Methods: Clinical data were collected from family members of a large Swiss family affected by autosomal dominant retinal pattern dystrophy. Single strand conformation polymorphism (SSCP) analysis of the candidate gene peripherin/RDS and subsequent sequencing of the first exon were performed. Results: Pattern dystrophy of the retina was suspected in 18 family members aged 30 years or older. Assuming a homogeneous phenotype, the candidate locus peripherin/RDS was investigated. SSCP analysis of the first exon of the peripherin/RDS gene showed an aberrant pattern in 18 affected individuals. Direct sequencing of polymerase chain reaction products detected a complex mutation, del265-268GCCA ins AGGGCC, leading to a stop codon at amino acid position 99. Conclusion: To our knowledge, we report the first complex mutation in the peripherin/RDS gene as the cause of a mild macular phenotype, supporting the importance of molecular diagnosis in genetic counseling.</p