The Rhodesian Ridgeback Club of the United States Rhodesian Ridgeback Club of the United States

HEALTH & GENETICS RESOURCES

Cataracts

CHF Grant 2209 (2002)

Galactokinase 1: A Candidate Gene for Juvenile Cataracts in Dogs
Principal Investigator: Kathryn Graves, PhD.

Abstract:

Juvenile cataracts occur in a number of breeds and in many cases appear to be inherited as an autosomal recessive trait. This means that it is impossible to eliminate carrier animals solely through removal of affected animals from the breeding population. Due to similarities between patterns of cataract formation in some dog breeds and humans with galactokinase deficiency, we feel that one or more mutations in Galactokinase1 (GALK1) may be responsible for juvenile cataracts in certain dog breeds. We are requesting funding to complete the sequencing of the GALK1 exons (coding regions) in the dog. We will then sequence the eight exons in four breeds of dogs affected with juvenile cataracts. This will be a preliminary study to determine if a mutation in this gene may exist in the Boston Terrier, Australian Terrier, Siberian Husky or Brittany. Regardless of the outcome in these breeds, the ability to sequence the exons of this gene could lead to rapid development of a DNA-based test for carrier animals in other breeds.

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