Распределение аллельных вариантов генов системы гемостаза у пациентов с врождёнными пороками сердца с функционально единственным желудочком

The aim of the study was to analyze the distribution of genotypes and alleles of genetic polymorphisms of blood clotting factor and platelet membrane glycoproteins in 102 children with congenital heart disease (CHD) with single ventricle malformations and in 98 healthy children. Wild type (GG) of factor II was detected in 99 children (97.1%) with CHD; heterozygous type (GA) of factor II was detected in 3 patients (2.9%); no children had homozygous type. Factor V wild type (GG) genotype was detected in 96 patients (94.1%); heterozygous type (GA) was found in 6 patients (5.9%); no children were homozygous for mutant allele (0%). In group of children with CHD, wild type (GG) of factor VII was found in 74 patients (72.5%); heterozygous type (GA) was present in 24 patients (23.5%); and homozygous type (AA) was present in 4 patients (4.0%). Fifty two patients (51.0%) had wild type (GG) genotype for factor XIII; 44 patients (43.1%) had heterozygous genotype (Gi); and 6 patients (5.9%) had homozygous genotype (ТТ). Genetic polymorphism of factor FGB was distributed in children with CHD as follows: 53 children (52.0%) had wild type (GG); 40 children (39.2%) had heterozygous genotype (GA); and 9 children (8.8%) had homozygous genotype (AA). The study of allelic variants of PAI-1 gene in CHD group showed the presence of wild type (5G5G) in 15 children (14.7%), heterozygous genotype (5G4G) in 50 children (49.0%), and homozygous (4G4G) genotype in 37 children (36.3%). The study of platelet membrane glycoprotein GP Ia-IIа gene demonstrated that 45 (44.1%) children with CHD were carriers of wild type (СС), 41 (40.2%) patients had heterozygous type (CT), and 16 children (15.7%) had homozygous (TT) genotype. There were no significant differences in genotype distributions between children with CHD and healthy children. Frequencies of the genotypes corresponded to those in European population.