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Abnormal coagulation factor VIII transcript in a Tennessee Walking Horse colt with hemophilia A
Author(s) -
Norton Elaine M.,
Wooldridge Anne A.,
Stewart Allison J.,
Cusimano Layla,
Schwartz Dean D.,
Johnson Calvin M.,
Boudreaux Mary K.,
Christopherson Pete W.
Publication year - 2016
Publication title -
veterinary clinical pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 51
eISSN - 1939-165X
pISSN - 0275-6382
DOI - 10.1111/vcp.12315
Subject(s) - exon , genomic dna , complementary dna , intron , genetics , biology , gene , coding region , polymerase chain reaction , horse , microbiology and biotechnology , paleontology
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.