A mutation in the LAMC2 gene causes the Herlitz junctional epidermolysis bullosa (H-JEB) in two French draft horse breeds
| Autor: | Dragan Milenkovic, Sead Taourit, Stéphane Chaffaux, Gérard Guérin |
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| Přispěvatelé: | Unité de recherche Génétique Biochimique et Cytogénétique (LGBC), Institut National de la Recherche Agronomique (INRA) |
| Jazyk: | angličtina |
| Rok vydání: | 2003 |
| Předmět: |
Linkage disequilibrium
[SDV]Life Sciences [q-bio] LAMC2 GENE HORSES Linkage Disequilibrium 0403 veterinary science Exon Genetics(clinical) laminin 5 MUTATION ComputingMilieux_MISCELLANEOUS lcsh:SF1-1100 Genetics Likelihood Functions 0303 health sciences integumentary system EPIDERMOLYSE BULLEUSE JONCTIONNELLE 04 agricultural and veterinary sciences General Medicine Phenotype 3. Good health horse JUNCTIONAL EPIDERMOLYSIS BULLOSA LAMININ 5 GENE LAMC2 LAMC2 Mutation (genetic algorithm) Epidermolysis bullosa Epidermolysis Bullosa Junctional lcsh:QH426-470 040301 veterinary sciences Genetic counseling Biology 03 medical and health sciences medicine Animals epidermolysis bullosa Gene Ecology Evolution Behavior and Systematics DNA Primers 030304 developmental biology Research Sequence Analysis DNA medicine.disease lcsh:Genetics [SDV.GEN.GA]Life Sciences [q-bio]/Genetics/Animal genetics Horse Diseases Animal Science and Zoology Laminin cheval lcsh:Animal culture Junctional epidermolysis bullosa (veterinary medicine) |
| Zdroj: | Genetics Selection Evolution Genetics Selection Evolution, BioMed Central, 2003, 35 (2), pp.249-256. ⟨10.1051/gse:2003007⟩ Scopus-Elsevier Genetics Selection Evolution, BioMed Central, 2003, 35, pp.249-256 Genetics Selection Evolution, Vol 35, Iss 2, Pp 249-256 (2003) CIÊNCIAVITAE Genetics Selection Evolution (35), 249-256. (2003) Genetics, Selection, Evolution : GSE |
| ISSN: | 0999-193X 1297-9686 |
| DOI: | 10.1051/gse:2003007⟩ |
| Popis: | Epidermolysis bullosa (EB) is a heterogeneous group of inherited diseases characterised by skin blistering and fragility. In humans, one of the most severe forms of EB known as Herlitz-junctional EB (H-JEB), is caused by mutations in the laminin 5 genes. EB has been described in several species, like cattle, sheep, dogs, cats and horses where the mutation, a cytosine insertion in exon 10 of the LAMC2 gene, was very recently identified in Belgian horses as the mutation responsible for JEB. In this study, the same mutation was found to be totally associated with the JEB phenotype in two French draft horse breeds, Trait Breton and Trait Comtois. This result provides breeders a molecular test to better manage their breeding strategies by genetic counselling. |
| Databáze: | OpenAIRE |
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