00229-A: Exploration of a Single Nucleotide Polymorphism in the GALK1 Gene as a Potential Marker for Juvenile Cataracts in the Boston Terrier

Grant Status: Closed

Grant Amount: $4,853.17
Kathryn Graves, PhD; University of Kentucky
April 1, 2004 - March 31, 2005


Breed(s): Boston Terrier
Research Program Area: Ophthalmology
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No mutation was found in the coding portion of the GALK1 gene in Boston Terriers. A SNP (single nucleotide polymorphism) was found in intron 3 (non-coding portion) in the affected dog and its carrier dam. Both the dam and offspring were heterozygous for this allele. This may mean it is unlikely that this SNP is very close to the cataract gene, or we may find that the majority of other affected dogs are indeed homozygous for this marker. The frequency of this marker in affected dogs will be compared to the frequency of its occurrence in our normal group of dogs. Only then can we determine if it is useful as an indicator of the presence of the cataract gene elsewhere on chromosome 9. We are requesting funding to further examine the polymorphism found in GALK1 Intron 1 in Boston Terriers. We have DNA from 100 additional Boston Terriers available. We will start by sequencing exon/intron 3 in the archived DNA of 27 affected Boston Terriers.


None at this time.

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