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

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Abstract


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.

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About the authors

Yessengali Serikovich Ussenbekov

Kazakh Agrarian National University

Email: usen03@mail.ru
PhD, Professor, the Head of Department of Clinical Veterinary Medicine

Orik Orazimanovna Zhanserkenova

Kazakh Agrarian National University

Email: orik10@inbox.ru
Ph.D., the Head of Educational, Scientific and Laboratory Diagnostic Center of Joint Kazakhstan and Japan Innovation Center

Shinar Nikolaevna Kasymbekova

Kazakh Agrarian National University

Email: 070702007@mail.ru
Senior researcher, Educational, Scientific and Laboratory Diagnostic Center of Joint Kazakhstan and Japan Innovation Center

Sarsenbek Torekhanovich Siyabekov

Kazakh Agrarian National University

Email: usen03@mail.ru
Ph.D., Аssociate Зrofessor of Department of Clinical Veterinary Medicine

Ivan Viktorovich Sobolev

St. Petersburg Clinical Research Center of Specialized Types of Medical Care

Email: sobol548@inbox.ru
Oncologist, Department of gynecology

Ruslan Ivanovich Glushakov

St. Petersburg State Pediatric Medical University

Email: glushakovruslan@gmail.com
MD, PhD, Associate Professor

Valeriy Pavlovich Terletskiy

Research Institute for Farm Animal Genetics and Breeding

Email: valeriter@mail.ru
PhD, Dr Biol Sci, Leading researcher the Department of Biotechnology of the Laboratory of Molecular Cytogenetics

Sergei Nikolaevich Proshin

St. Petersburg State Pediatric Medical University

Email: psnjsn@rambler.ru
MD, PhD, Dr Med Sci, Professor, Head of the Department of Pharmacology

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Copyright (c) 2015 Ussenbekov Y.S., Zhanserkenova O.O., Kasymbekova S.N., Siyabekov S.T., Sobolev I.V., Glushakov R.I., Terletskiy V.P., Proshin S.N.

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