title: Abnormal coagulation factor VIII transcript in a Tennessee Walking Horse colt with hemophilia A.
abstract: Hemophilia A is an X-chromosome-linked disorder caused by a deficiency in factor VIII (FVIII). Although foals have been diagnosed with hemophilia A based on deficiency in FVIII activity, causative gene mutations have not been identified. The genomic DNA and cDNA encoding FVIII of a Tennesee Walking Horse colt affected with hemophilia A and the genomic DNA of his dam and a normal unrelated horse were analyzed with no splice site or coding sequence abnormalities identified in any of the horses. Polymerase chain reactions (PCR) were then performed on hepatic cDNA from the affected colt and an unrelated normal horse, and no product was obtained for the sequence between and including exon 1 and exon 2 in the affected colt. Based on these results, suspected mutations were identified in the noncoding region of FVIII (intron 1), and genomic sequencing of intron 1 in the dam and the affected colt suggested maternal inheritance.
authors.affiliation: Department of Clinical Sciences, Auburn University College of Veterinary Medicine, Auburn, AL, USA.
authors.forename: Elaine M
authors.initials: EM
authors.lastname: Norton
authors.affiliation: Department of Clinical Sciences, Auburn University College of Veterinary Medicine, Auburn, AL, USA.
authors.forename: Anne A
authors.initials: AA
authors.lastname: Wooldridge
authors.affiliation: Department of Clinical Sciences, Auburn University College of Veterinary Medicine, Auburn, AL, USA.
authors.forename: Allison J
authors.initials: AJ
authors.lastname: Stewart
authors.affiliation: Department of Pathobiology, Auburn University College of Veterinary Medicine, Auburn, AL, USA.
authors.forename: Layla
authors.initials: L
authors.lastname: Cusimano
authors.affiliation: Department of Anatomy, Physiology and Pharmacology, Auburn University College of Veterinary Medicine, Auburn, AL, USA.
authors.forename: Dean D
authors.initials: DD
authors.lastname: Schwartz
authors.affiliation: Department of Pathobiology, Auburn University College of Veterinary Medicine, Auburn, AL, USA.
authors.forename: Calvin M
authors.initials: CM
authors.lastname: Johnson
authors.affiliation: Department of Pathobiology, Auburn University College of Veterinary Medicine, Auburn, AL, USA.
authors.forename: Mary K
authors.initials: MK
authors.lastname: Boudreaux
authors.affiliation: Department of Pathobiology, Auburn University College of Veterinary Medicine, Auburn, AL, USA.
authors.forename: Pete W
authors.initials: PW
authors.lastname: Christopherson
mesh_terms: D000818:Animals; D001483:Base Sequence; D005169:Factor VIII / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D050172:Genes, X-Linked; D006467:Hemophilia A / Q000097:blood / Q000235:genetics / Q000662:veterinary*; D006734:Horse Diseases / Q000097:blood / Q000235:genetics*; D006736:Horses; D007438:Introns / Q000235:genetics; D008099:Liver / Q000737:chemistry; D008297:Male; D009154:Mutation; D020641:Polymorphism, Single Nucleotide
chemical_list: D005169:Factor VIII
keywords: Coagulation; genetic; hereditary; horse; mutation