Junctional Epidermolysis Bullosa in Belgian Draft Horses in North America: Results of Genetic Testing (2002–2012)

نویسندگان

  • John D. Baird
  • Lee V. Millon
  • Cecilia T. Penedo
چکیده

Junctional epidermolysis bullosa (EB) in the Belgian draft horse and other draft horse breeds is a genodermatosis inherited as an autosomal recessive trait. The mutation responsible is a cytosine insertion (1368 insC) in the LAMC2 gene, which results in the absent expression of the laminin -2 polypeptide chain of the heterotrimer laminin-332 (previously laminin-5). A polymerase chain reaction (PCR) test was developed to identify carriers of the mutation through the use of mane hairs. Mandatory testing of breeding stallions was instituted by the Belgian Draft Horse Corporation of America on November 1, 2002, and by the Canadian Belgian Horse Association on January 1, 2003. In the following 10 years (until December 31, 2012), a total of 2176 registered Belgian draft horse stallions have been tested. The number of stallions identified as carriers of the LAMC2 mutation was 319 (12.5%). The genetic testing of breeding mares for the LAMC2 mutation has been on a voluntary basis. Over the first 10 years of genetic testing, there has been no statistically significant change in the percentage of carriers of the LAMC2 mutation. Authors’ addresses: Department of Clinical Studies, Ontario Veterinary College, University of Guelph, Guelph, ON N1G 2W1 Canada (Baird); Veterinary Genetics Laboratory, University of California, One Shields Avenue, Davis, CA 95616 (Millon, Penedo) e-mail: [email protected]. *Corresponding and presenting author. © 2013 AAEP.

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Junctional Epidermolysis Bullosa in Belgian Draft Horses

The mutation responsible for Junctional Epidermolysis Bullosa (JEB) in Belgian draft horses in North America and other draft breeds in Europe has been identified. The mutation, a cytosine insertion (1368 insC) in the LAMC2 gene, results in absent expression of the laminin γ2 polypeptide chain of laminin 5. JEB is inherited as an autosomal recessive trait. A polymerase chain reaction (PCR) test ...

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تاریخ انتشار 2013