Abnormal coagulation factor VIII transcript in a Tennessee Walking Horse colt with hemophilia A

Veterinary Clinical Pathology
Elaine M NortonPete W Christopherson

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.

References

Jul 10, 2001·Haemophilia : the Official Journal of the World Federation of Hemophilia·B D TheophilusF G Hill
Oct 14, 2004·Haemophilia : the Official Journal of the World Federation of Hemophilia·J OldenburgE L Saenko
Jan 27, 2005·Journal of Thrombosis and Haemostasis : JTH·O El-MaarriJ Oldenburg
Dec 8, 2005·European Journal of Human Genetics : EJHG·Margret Casal, Mark Haskins
Aug 31, 2010·Clinica Chimica Acta; International Journal of Clinical Chemistry·Preethi Satish NairKanjaksha Ghosh
Jun 22, 2011·Journal of Thrombosis and Haemostasis : JTH·G CastamanF Rodeghiero
Dec 27, 2011·Thrombosis Research·Rong HeShilin He
Oct 31, 2012·Pediatric Blood & Cancer·Paula H B Bolton-Maggs

❮ Previous
Next ❯

Citations

May 29, 2020·Equine Veterinary Journal·Anna R DahlgrenCarrie J Finno
Nov 27, 2019·Animals : an Open Access Journal From MDPI·Raíssa O LeiteJose P Oliveira-Filho

❮ Previous
Next ❯

Related Concepts

Related Feeds

Blood Clotting Disorders

Thrombophilia includes conditions with increased tendency for excessive blood clotting. Blood clotting occurs when the body has insufficient amounts of specialized proteins that make blood clot and stop bleeding. Here is the latest research on blood clotting disorders.