| 1. |
- Swanbeck, Gunnar, 1934, et al.
(author)
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A population genetic study of psoriasis
- 1994
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In: Br J Dermatol. - 0007-0963. ; 131:1, s. 32-9
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Journal article (peer-reviewed)abstract
- We present epidemiological data for 5197 families with psoriasis. Errors in reporting have been analysed. Analysis of the data provides indications of random mating with respect to whether the partner has the skin disease or not. Data on psoriasis among parents, siblings and children are provided, and particular attention has been paid to the age at onset of psoriasis. Psoriasis was present in the parents of about 36% of the probands. In families in which one or both parents have psoriasis, the occurrence of the disease among the siblings does not provide any information which differentiates between a dominant and recessive mode of inheritance, but is compatible with both. In families in which neither parent had psoriasis, provided there was a proband with psoriasis, the probability of the siblings suffering from psoriasis was close to 0.25, indicating a recessive mode of inheritance. The distribution of psoriasis among the parents of all probands, and among the children of probands, was also compatible with this mode of inheritance. The prevalence of psoriasis in the elderly was estimated to be about 5%, and the gene frequency in the whole population 25%. These findings show that, with regard to first-degree relatives, the inheritance of psoriasis can fit an autosomal recessive model. The concept of a recessive mode of inheritance may be used as a basis for genetic counselling.
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| 2. |
- Uvebrant, Paul, 1951, et al.
(author)
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Successful DNA-based prenatal exclusion of juvenile neuronal ceroid lipofuscinosis.
- 1993
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In: Prenatal diagnosis. - 0197-3851. ; 13:7, s. 651-7
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Journal article (peer-reviewed)abstract
- A family with two siblings, 10 and 8 years old, both with clinical and ultrastructural evidence of juvenile neuronal ceroid lipofuscinosis is described. The family was found to be informative for the restriction fragment length polymorphisms (RFLPs) detected by the probes pCJ52-95M1 (locus D16S148) and pCJ52-94T1 (locus D16S159) flanking the juvenile neuronal ceroid lipofuscinosis locus, CLN3. The parents were both heterozygous using these probes, while their two children with juvenile neuronal ceroid lipofuscinosis were both homozygous. Chorionic villi analysis showed that the fetus was heterozygous and had inherited the one allele of the mother which was not found in the two siblings. This suggested that the fetus had derived one healthy allele from the mother, the risk for a double crossing-over being less than 1 per cent. Electron microscopy showed no fingerprint inclusions in chorionic villi. The child was investigated at 6 months of age and found to be healthy, as new fingerprint inclusions were found at electron microscopy and no vacuolated lymphocytes were found in the blood smear. Due to the risk of heterogeneity, both DNA-based analysis and electron microscopy on chorionic villi are recommended for prenatal examination for juvenile neuronal ceroid lipofuscinosis.
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