TAILIEUCHUNG - Báo cáo sinh học: "A mutation in the LAMC2 gene causes the Herlitz junctional epidermolysis bullosa (H-JEB) in two French draft horse breeds"

Tuyển tập các báo cáo nghiên cứu về sinh học được đăng trên tạp chí sinh học thế giới đề tài: A mutation in the LAMC2 gene causes the Herlitz junctional epidermolysis bullosa (H-JEB) in two French draft horse breeds | 249 Genet Sei. Evol. 35 2003 249-256 INRA EDP Sciences 2003 DOI gse 2003007 Note a mutation in the LAMC2 gene causes the Herlitz junctional epidermolysis bullosa H-JEB in two French draft horse breeds Dragan Milenkovic Stéphane Chaffaux Sead Taourit Gérard Guérin Laboratoire de génétique biochimique et de CYtogénétique Departement de génétique animale Institut national de la recherche agronomique Centre de recherches de Jouy 78352 JouY-en-Josas Cedex France Received 2 August 2002 accepted 5 September 2002 Abstract - 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. horse LAMC2 epidermolysis bullosa laminin 5 1. introduction Epidermolysis bullosa EB is a heterogeneous group of mechano-bullous disorders characterised by fragility of the skin and the mucous membranes. In humans EB is divided into three different forms depending on the level of the separation within the dermo-epidermal junction as recognised by diagnostic transmission electron microscopy 8 9 . The junctional form of EB JEB is characterised by blister formation within the lamina lucida of the basement membrane zone and by an autosomal recessive pattern of inheritance. In the severe Herlitz variant H-JEB tissue cleavage results from the mutations in one Correspondence and reprints E-mail guerin@ .

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