Peer-reviewed veterinary case report
Abnormal coagulation factor VIII transcript in a Tennessee Walking Horse colt with hemophilia A.
- Journal:
- Veterinary clinical pathology
- Year:
- 2016
- Authors:
- Norton, Elaine M et al.
- Affiliation:
- Department of Clinical Sciences · United States
- Species:
- horse
Plain-English summary
A Tennessee Walking Horse colt was diagnosed with hemophilia A, a genetic disorder that affects blood clotting due to a lack of a protein called factor VIII. Researchers looked at the colt's DNA and that of his mother and another healthy horse but didn't find any obvious problems in the genes that produce factor VIII. They did some tests that showed the colt was missing part of the factor VIII gene, which likely came from his mother. This suggests that the colt inherited a mutation that affects his ability to produce this important clotting factor. The findings help explain the colt's condition and point to a genetic cause for his 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.
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Search related cases →Original publication: https://pubmed.ncbi.nlm.nih.gov/26765501/