[Genetic determinants of hereditary thrombophilia in pathogenesis of venous thrombosis].

Aim: To study the role of genetic determinants of hereditary thrombophilia in pathogenesis of various clinical manifestations of venous thrombosis in the citizens of the North-West Region of Russia.

Material And Methods: Mutations of the genes of factor V (FV Leiden), prothrombin (G20210-A) and polymorphism C677-T in the gene of methylentetrahydrofolate reductase (MTHFR) were detected using polymerase chain reaction (PCR) with a following restriction analysis of PCR product in 183 patients with venous thrombosis (115 with isolated thrombosis of the deep veins and 68 with thromboembolism of the pulmonary artery).

Results: It was established that mutation FV Leiden is a significant risk factor of deep vein thrombosis in the legs and postthrombotic disease, but this mutation is weakly associated with pulmonary artery thromboembolism (PAT).

[Certain biochemical features of leukocytes in blast crisis of chronic myelogenous leukemia].

The content of nuclear high mobility group (HMG) proteins, activities of ornithine decarboxylase (ODC), adenosine deaminase (ADA) and purine nucleoside phosphorylase (PNP) and also glycosaminoglycan (GAG) content and composition were studied in leukocytes of patients with chronic myelogenous leukemia in the phase of blast crisis (BC CML). Myeloid and lymphoid cytochemical variants of BC CML differ by biochemical parameters. It is suggested, that the content of HMG-proteins, activities of ODC and PNP, and electrophoretic patterns of GAGs could be used in diagnostics of two main variants of BC CML.

[Thymidine kinase activity in leukocytes from patients with chronic myeloid leukemia at various periods in the disease].

The level of thymidine kinase activity in the premature leukocytes of patients with chronic myeloleukemia during the stable phase was shown to serve as a measure of the disease development. Considerable variations in thymidine kinase activity in blast cells in myeloid and lymphoid blast crises demonstrated that analysis of the enzyme activity might be used in the biochemical diagnosis of blast crisis in chronic myeloleukemia simultaneously with the enzymes of purine metabolism--ADA and PNP. During cell differentiation, the activity of thymidine kinase was decreased and in the myeloid cells the enzymatic activity was much higher of that in lymphoid cells as shown by investigations using blast cells of patients with blast crisis in chronic myeloleukemia, cells K-562, thymocytes, spleen and peripheric blood lymphocytes.

[Distribution of alleles of DRB, DQB and DQA loci of major histocompatibility complex in healthy donors of Saint Peterburg].

The distribution of alleles of DRB, DQB and DQA loci was investigated in 118 healthy donors from St. Petersburg. Said alleles were identified by the restriction fragment length polymorphism method using DRB, DQB and DQA probes after TaqI digestion and Southern blotting.

[The enzyme activity of purine nucleotide degradation and lymphoid cell subpopulations in children with the Diamond-Blackfan syndrome].

Blood cells of 13 children with Diamond-Blackfan syndrome and their parents were examined for some immunological characteristics of lymphocytes and the activity of adenosine desaminase (ADA), purine nucleoside phosphorylase (PNP). Acute stage of the disease was characterized by high ADA activity of red blood cells and normal PNP activity in 75% of the patients. In remission these abnormalities persisted.