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- Ekström, Ulf, et al.
(författare)
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A Swedish family with a mutation in the peripherin/RDS gene (Arg-172-Trp) associated with a progressive retinal degeneration
- 1998
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Ingår i: Ophthalmic Genetics. - : Swets & Zeitlinger Publishers. - 1744-5094 .- 1381-6810. ; 19:3, s. 149-156
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: To clinically characterize a Swedish family with autosomal dominant retinitis pigmentosa due to a mutation, Arg-172-Trp, in the peripherin/RDS gene. METHODS: Full clinical evaluation including kinetic visual field testing, measurement of dark-adaptation threshold, and full-field electroretinography in seven patients with autosomal dominant retinitis pigmentosa and three healthy family members. Denaturing gradient gel electrophoresis (DGGE) was used for mutation screening in seven patients and six healthy members of the family. RESULTS: Three of four siblings from the middle generation and four of the younger generation were heterozygous for the peripherin /RDS Arg-172-Trp mutation. The mutation segregated with the disease. Visual acuity decreased progressively with age and visual fields were moderately constricted in young patients, while central scotoma and constriction of the fields were detected in the family members above 50 years of age. The results from full-field electrography were comparable with a widespread retinal degeneration. CONCLUSIONS: Earlier, the peripherin/RDS Arg-172-Trp mutation was associated primarily with a macular degeneration phenotype. One previous study indicated that this mutation also can give rise to a degeneration of the more peripheral parts of the retina. In the present study, a widespread retinal degeneration is seen in the patients above 50 years of age, carrying the Arg-172-Trp mutation.
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| 2. |
- Magnell, Ola, et al.
(författare)
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Hässleberga – a Late Palaeolithic kill site in Scania, Sweden, confirmed by analysis of bone modifications
- 1999
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Ingår i: Lund Archaeological Review. - 1401-2189. ; 1999, s. 5-19
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Tidskriftsartikel (refereegranskat)abstract
- Late glacial skeletal remains from mainly reindeer and wild horse, but also other species such as mountain hare, arctic fox and elk have been collected from kettle holes in Hässleberga, Scania. Bones from reindeer and wild horse have been radiocarbon dated to Allerød and Younger Dryas. Analysis of bone modifications has revealed several different actors and factors behind the accumulation of the skeletal remains. Marks caused by gnawing and chewing by rodents, ungulates and carnivores have been observed on skeletal remains from reindeer and wild horse. The frequent occurrence of carnivore tooth marks probably both represents predation by carnivores as well as scavenging of bone refuse. Modifications interpreted to be cut marks and marrow fracturing caused by humans have been observed on bones from reindeer and wild horse. Man-made modifications on radiocarbon dated reindeer bones indicate the presence of humans in Hässleberga during Allerød and Younger Dryas.
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