Equine Genetic Disorders Reviewed

What do sex-reversal syndrome, junctional epidermolysis bullosa, and autosomal trisomy have in common? They’re all equine genetic diseases. But these conditions have distinct differences that help practitioners evaluate and diagnose suspect cases.
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What do sex-reversal syndrome, junctional epidermolysis bullosa, and autosomal trisomy have in common? They're all equine genetic diseases. But these conditions also have distinct differences that can help practitioners evaluate and diagnose suspect cases.

At the Equine Endocrine and Genetic Disorders Symposium, held Nov. 21 in Lexington, Ky., Teri Lear, PhD, equine genetics researcher at the University of Kentucky's Gluck Equine Research Center, delivered a presentation reviewing how practitioners can recognize genetic diseases in everyday practice.

Lear explained that there are two types of genetic disease: chromosome abnormalities and inherited disease. The former can include chromosome or DNA mutations (termed disorders of sex development, or DSD) or variations in chromosome structure or number. The latter includes diseases passed genetically from a parent to an offspring.

She reviewed how veterinarians can examine chromosomes and DNA (including the use of techniques called karoyping and fluorescence in situ hybridization, or FISH) before describing how these disorders appear in clinical practice

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Erica Larson, former news editor for The Horse, holds a degree in journalism with an external specialty in equine science from Michigan State University in East Lansing. A Massachusetts native, she grew up in the saddle and has dabbled in a variety of disciplines including foxhunting, saddle seat, and mounted games. Currently, Erica competes in eventing with her OTTB, Dorado.

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