Epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma). Genetic linkage to chromosome 12q in the region of the type II keratin gene cluster
| Autor: | Jouni Uitto, R G Knowlton, Angela M. Christiano, Leena Pulkkinen |
|---|---|
| Rok vydání: | 1993 |
| Předmět: |
Male
Candidate gene Congenital ichthyosiform erythroderma Genetic Linkage Restriction Mapping Hyperkeratosis Locus (genetics) Biology Epidermolytic hyperkeratosis Type II keratin Keratin medicine Humans Skin Genetics chemistry.chemical_classification Hyperkeratosis Epidermolytic Chromosomes Human Pair 12 integumentary system Genodermatosis DNA General Medicine medicine.disease Chromosome Banding Pedigree Blotting Southern chemistry Child Preschool Multigene Family Keratins Female Research Article |
| Zdroj: | Journal of Clinical Investigation. 91:357-361 |
| ISSN: | 0021-9738 |
| DOI: | 10.1172/jci116193 |
| Popis: | Epidermolytic hyperkeratosis (EHK) is an autosomal dominant genodermatosis characterized by hyperkeratosis and blistering of the skin. Histopathology demonstrates suprabasilar blister formation with aggregation of tonofilaments. In this study, we tested the hypothesis that the EHK phenotype is linked to one of the suprabasilar keratins (KRT10 or KRT1) present in the types I and II keratin gene clusters in chromosomes 17q and 12q, respectively. For this purpose, Southern hybridizations were performed with DNA from a large kindred with EHK, consisting of 11 affected individuals in three generations. Segregation analysis with markers flanking the keratin gene clusters demonstrated linkage (Z = 3.61 at theta = 0) to a locus on 12q, while markers on 17q were excluded. These data implicate KRT1, the type II keratin expressed in suprabasilar keratinocytes, as a candidate gene in this family with EHK. |
| Databáze: | OpenAIRE |
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