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| Item Type: | Article |
|---|---|
| Title: | Localization of the gene causing keratolytic winter erythema to chromosome 8p22-p23, and evidence for a founder effect in south african afrikaans-speakers |
| Creators Name: | Starfield, M., Hennies, H.C., Jung, M., Jenkins, T., Wienker, T.F., Hull, P., Spurdle, A., Kuester, W., Ramsay, M. and Reis, A. |
| Abstract: | Keratolytic winter erythema (KWE), also known as "Oudtshoorn skin disease," or "erythrokeratolysis hiemalis," is an autosomal dominant skin disorder of unknown etiology characterized by a cyclical erythema, hyperkeratosis, and recurrent and intermittent peeling of the palms and soles, particularly during winter. Initially KWE was believed to be unique to South Africa, but recently a large pedigree of German origin has been identified. The disorder occurs with a prevalence of 1/7,000 in the South African Afrikaans-speaking Caucasoid population, and this high frequency has been attributed to founder effect. After a number of candidate regions were excluded from linkage to KWE in both the German family and several South African families, a genomewide analysis was embarked on. Linkage to the microsatellite marker D8S550 on chromosome 8p22-p23 was initially observed, with a maximum LOD score (Z(max)) of 9.2 at a maximum recombination fraction (theta(max)) of .0 in the German family. Linkage was also demonstrated in five of the larger South African families, with Z(max) = 7.4 at theta(max) = .02. When haplotypes were constructed, 11 of 14 South African KWE families had the complete "ancestral" haplotype, and 3 demonstrated conservation of parts of this haplotype, supporting the hypothesis of founder effect. The chromosome segregating with the disease in the German family demonstrated a different haplotype, suggesting that these chromosomes do not have a common origin. Recombination events place the KWE gene in a 6-cM interval between D8S550 and D8S552. If it is assumed that there was a single South African founder, a proposed ancestral recombinant suggests that the gene is most likely in a 1-cM interval between D8S550 and D8S265. |
| Keywords: | Chromosome Mapping, Dominant Genes, Erythema, Exfoliative Dermatitis, Founder Effect, Genetic Linkage, Germany, Haplotypes, Keratins, Lod Score, Microsatellite Repeats, Pair 8 Human Chromosomes, Palmoplantar Keratoderma, Pedigree, Periodicity, Seasons, South Africa |
| Source: | American Journal of Human Genetics |
| ISSN: | 0002-9297 |
| Publisher: | University of Chicago Press |
| Volume: | 61 |
| Number: | 2 |
| Page Range: | 370-378 |
| Date: | August 1997 |
| Official Publication: | https://doi.org/10.1086/514848 |
| PubMed: | View item in PubMed |
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