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Identification of variants of the SPINK1 gene and their association with pancreatitis in Miniature Schnauzers.

AbstractOBJECTIVE:
To evaluate the serine protease inhibitor, Kazal type 1 (SPINK1) gene for variants and to determine their possible association with pancreatitis in Miniature Schnauzers.
ANIMALS:
39 Miniature Schnauzers with pancreatitis, 25 healthy Miniature Schnauzers, and 23 healthy dogs of other breeds.
PROCEDURES:
The entire canine SPINK1 gene with its intron-exon boundaries was initially sequenced in 22 Miniature Schnauzers. Then, 2 regions of the gene were sequenced in 65 additional canine DNA samples at the locations of variants identified in the initial sequencing of the entire SPINK1 gene.
RESULTS:
Analysis of the SPINK1 gene in Miniature Schnauzers revealed 3 closely associated variants in healthy Miniature Schnauzers and Miniature Schnauzers with pancreatitis. These variants consisted of 2 missense mutations in the second exon (N20K and N25T) and a poly T insertion in the third intron that was near the boundary of exon 3 (IVS3+26-27ins(T)33-39,15_61dup11). Pancreatitis was significantly associated with homozygous alleles for these 3 variants in Miniature Schnauzers. In healthy dogs of other breeds, only the 2 exon variants were identified.
CONCLUSIONS AND CLINICAL RELEVANCE:
Variants of the SPINK1 gene may be associated with the development of pancreatitis in Miniature Schnauzers.
AuthorsMicah A Bishop, Panagiotis G Xenoulis, Melinda D Levinski, Jan S Suchodolski, Jörg M Steiner
JournalAmerican journal of veterinary research (Am J Vet Res) Vol. 71 Issue 5 Pg. 527-33 (May 2010) ISSN: 0002-9645 [Print] United States
PMID20433378 (Publication Type: Journal Article)
Chemical References
  • Carrier Proteins
  • DNA Primers
  • Intercellular Signaling Peptides and Proteins
  • SPINK1 protein, human
  • Serine Proteinase Inhibitors
  • Lipase
Topics
  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Carrier Proteins (chemistry, genetics)
  • DNA Primers
  • Dog Diseases (genetics)
  • Dogs
  • Exons (genetics)
  • Genetic Variation
  • Humans
  • Intercellular Signaling Peptides and Proteins (chemistry, genetics)
  • Introns (genetics)
  • Lipase (genetics)
  • Molecular Sequence Data
  • Pancreatitis (genetics, veterinary)
  • Sequence Alignment
  • Sequence Homology, Amino Acid
  • Serine Proteinase Inhibitors (genetics)

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