THE STUDY OF THROMBOPHILIA GENE POLYMORPHISM IN PREGNANCY COMPLICATIONS
Al-Farabi Kazakh National University, Associate Professor of Department of Molecular Biology and Genetics, Candidate of Biological Sciences, +7 (777) 239-03-71, firstname.lastname@example.org
Genetic Laboratory TreeGene, Physician Assistant, +7 (727) 391 19 06, email@example.com
Institute of Reproductive Medicine, Obstetrician-Gynecologist of the highest category, 8(727) 234-34-34, firstname.lastname@example.org
Genetic Laboratory TreeGene, Director, 8 (727) 391 19 06, email@example.com
Genetic Laboratory TreeGene, Physician-Geneticist, 8 (727) 391 19 06, firstname.lastname@example.org
Al-Farabi Kazakh National University, Assistant Professor of Department of Molecular Biology and Genetics, Candidate of Biological Sciences, +7 (701) 758-98-63, Saniya.Dauletbaeva@kaznu.kz.
Genetic Laboratory TreeGene, Chief Specialist, 8 (727) 391 19 06, email@example.com
Key words: gene polymorphism, trombophilia, pregnancy complications, PCR.
Introduction: One of the common causes of high mortality through population is thrombophilia — inherited and acquired disorders of hemostasis. Predisposition to early appearance and recurrence of thrombosis, thromboembolism, myocardial ischemia and organs’ infarct are marked during thrombophilia. Risk factors include malignant tumors, obesity, diabetes, heart failure, pregnancy, etc. (Genetic passport…, 2009). Molecular genetics techniques are used to identify of blood coagulation system polymorphic genes’ carriers. It is reasonable for early diagnosis and prevention of thrombophilia.
The aim of the research was the study of polymorphism in 9 blood coagulation system genes in pregnancy complications.
Methods: DNA from peripheral blood lymphocytes isolated by standard methods. Gene polymorphism was determined by allele-specific polymerase chain reaction on the thermocycler BioRad CFX96 (BioRad, USA) by Real time PCR. Primers of Lytech company (Moscow, Russia) were used.
Results: 20 pregnant women were observed: who had fetal death in anamnesis – 6, premature detachment of normally situated placenta – 3, severe pre-eclampsia in anamnesis -3, intrauterine growth retardation – 2, habitual miscarriage — 6 cases. Differentiation on a national basis was not carried out.
The theoretically expected distribution for the following genotypes: MTRR 66A>G (n=11; χ2=0,99; Р>0,05); РAI1 5G/4G (n=11; χ2 =0,66; Р>0,05); MTHFR 677C>T (n=11; χ2=2,41; Р>0,05); FGB G-455A (n=13; χ2=2,54; Р>0,05), was found in the analysis. For other genes mismatch the theoretically expected distribution: MTR 2756А>G (n=11; χ2=10,9; Р<0,05); ITGA2 807C>T (n=11; χ2=6,11; Р<0,05); ITGB3 1565Т>С (n=11; χ2=8,81; Р<0,05). Genotypes of F2 20210G>A and F5 1691G>A(Leiden) genes with mutant alleles were not detected.
Prophylactic treatment was carried out from childbearing cycle. Basic treatment was carried out under the control of a monthly hemostasiogram and genetic markers of thrombosis. There were no repeated cases of abruptio placentae, severe pre-eclampsia, post-partum hemorrhage in all patients. Full-term infants born alive with a weight from 2900 to 3600 g.
Conclusion: Thus, detection the presence of mutant genes and gene polymorphism variants of blood coagulation system can determine and prevent thrombophilic condition and complications caused by them, which, in turn, reduces the risk of a disease developing.