ABSTRACT
Two cases of hereditary bleeding disorder diagnosed as haemophilia A were recently observed in Japanese Brown cattle. We sequenced the entire coding region of the factor VIII gene of the affected animals to find a causative mutation. A nucleotide substitution of T to A resulting in an amino acid substitution of leucine to histidine (p.Leu2153His) was identified in a highly conserved residue in the C1 domain of factor VIII. Genotyping of 254 normal animals including the pedigree of the affected animals and randomly sampled animals of different breeds confirmed that the substitution is the causative mutation of cattle haemophilia A.
Subject(s)
Cattle Diseases/genetics , Factor VIII/genetics , Hemophilia A/veterinary , Mutation, Missense/genetics , Animals , Base Sequence , Cattle , Genotype , Hemophilia A/genetics , Japan , Molecular Sequence Data , Pedigree , Sequence Analysis, DNA/veterinaryABSTRACT
A new immunoradiometric assay kit (IRMA) of human serum tissue polypeptide antigen (TPA) based on combination monoclonal antibodies was evaluated. Using a new TPA-IRMA, the procedure of TPA measurement was faster and the range of measurement was more wide than a conventional TPA-IRMA. 89% (76/85 cases) of patients with malignant tumor and 96.4% (27/28) of patients with metastatic malignant tumor were positively detected. This assay of new TPA-M kit is sensitive to the level of serum TPA which is corresponding to a therapy. It is concluded that a new TPA-IRMA is very useful in monitoring and assessing malignant tumors.
