Аннотация
Investigation is aimed to the searching of cardiovascular diseases genetic markers in local population of Kazakhstan Republic. Description of ethnical genetic differences in Kazakhstan is important for the accurate diagnosis and prognosis of cardiavascular diseases and essential hypertension particularly. The distribution of alleles and genotypes of plasminogene activator inhibitor gene (pai-1) gene was investigated in Kazakh and Uighur ethnic groups of Almaty city population was tested. Insertion/deletion polymorphism: five guanines (wild type) substituting to four guanine of repeating site 5G/4G in -675 position of the pai-1 gene promoter region was used as a marker. Two alleles (4G, 5G) and three genotypes (4G4G, 4G5G, 5G5G) frequencies were measured by means of RFLP-PCR reaction. Experimental group consists of 104 coronary heart diseases patients after myocardial infarction and of 77 essential hypertonia patients. As a control (practically healthy persons of same nationalities) 134 blood samples were used. No significant interethnic differences in allele frequencies were found out between two populations tested. It was also not found the statistically significant differences in alleles and genotypes frequencies of pai-1 gene in patients with ischemia heart disease (after myocardial infarction) neither in Kazakh, nor in Uighur patients compared with healthy persons. Hypertension patients DNA samples in Kazakh group demonstrated the difference of 4G4G homozygous genotype frequency compared with control. The heterozygosity level was 80% in hypertension patients and did not exceed 50% in control group. The differences of alleles frequencies observed are statistically significant: x2 = 15.0, P ≤ 0.01. According calculated values the distribution of allele frequencies in Kazakh group hypertension patients did not follow the Hardy-Weinberg equilibrium: x2 = 22.0, P ≤ 0.01. The data obtained can indicate to the possibility of 4G4G polymorphism of pai-1 gene using as a marker of predisposition to essential hypertension and as a tool of early diagnostics of this pathology in persons of Kazakh nationality