Identification of concealed disturbance of blood coagulation (deficiency of factor XI) by polymerase chain reaction (experimental study)

Minor bleeding is quite common in children and in some cases masks the serious disease of blood clotting. As a rule, this rare inherited disease associated with deficiency of coagulation factors as the I, II, V, VII, X, XI and XIII, as well as deficiency conjugate, most often, the joint failure factors V and VIII and factor whose synthesis associated with vitamin K. The pediatric clinic is difficult to fulfill a randomized trial because of the difficulty of identifying such children carriers of genetic abnormalities at a specific blood clotting factor. In connection with the model of deficiency of coagulation factor XI in a mammals (Bos Taurus L) with autosomal recessive type of inheritance is particularly promising. Deficiency of coagulation factor XI in cattle is inherited autosomal recessive defect. At the first time this pathology was recognized in Holstein cows in 1969. Frequently the etiologic factor of most hidden genetic defects in animals are point mutations in the coding region of the respective genes. On the contrary it has been found that deficiency of coagulation factor XI cattle (FXID) is a consequence of the insertion of nucleotide sequences within exon 12 of the gene FXI length of 76 base pairs. STOP codon (TAA) was resulted from insertion. Phenotypically deficiency of factor XI (FXID) in calves is resulted in disturbance of blood clotting and characterized by prolonged bleeding from the umbilical cord and anemia. Cows which are heterozygous in deficiency of coagulation factor XI have colostrum pink color. Those animals are frequently suffered from pneumonia, mastitis and endometritis. We monitored the breeding sires and Holstein cows on the carrier of the genetic disease: deficiency of coagulation factor XI. To detect the insertion of nucleotide sequences of 76 bp in size it is recommended to use the polymerase chain reaction.

deficiency of coagulation factor XI, autosomal recessive disease, insertion, reproductive function of mammals