title: Prekallikrein deficiency in a dog.
abstract: Prekallikrein (PK) deficiency is an uncommon disorder in dogs. In this report, we describe a case of a dog that was referred for neurological defects and had a prolonged activated partial thromboplastin time (aPTT) and normal prothrombin time (PT) with no hemostatic defects. By using human PK-deficient plasma, the dog was diagnosed to have PK deficiency. The nucleotide sequence of normal canine PK cDNA was determined and compared with the genomic sequences of PK in the affected dog. The comparison revealed that the dog had a point mutation in exon 8 that leads to an amino acid substitution in the fourth apple domain of PK. This is the first report showing a point mutation of PK in a dog with PK deficiency.
authors.affiliation: Laboratory of Veterinary Internal Medicine, Department of Veterinary Medicine, Faculty of Agriculture, Yamaguchi University, Yamaguchi, Japan.
authors.forename: Takumi
authors.initials: T
authors.lastname: Okawa
authors.forename: Takuma
authors.initials: T
authors.lastname: Yanase
authors.forename: Takako
authors.initials: T
authors.lastname: Shimokawa Miyama
authors.forename: Hiroko
authors.initials: H
authors.lastname: Hiraoka
authors.forename: Kenji
authors.initials: K
authors.lastname: Baba
authors.forename: Kenji
authors.initials: K
authors.lastname: Tani
authors.forename: Masaru
authors.initials: M
authors.lastname: Okuda
authors.forename: Takuya
authors.initials: T
authors.lastname: Mizuno
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D018076:DNA, Complementary / Q000235:genetics; D004283:Dog Diseases / Q000097:blood*; D004285:Dogs; D020141:Hemostatic Disorders / Q000235:genetics / Q000378:metabolism / Q000662:veterinary*; D008297:Male; D008969:Molecular Sequence Data; D010314:Partial Thromboplastin Time / Q000662:veterinary; D017354:Point Mutation; D011288:Prekallikrein / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism
chemical_list: D018076:DNA, Complementary; D011288:Prekallikrein