[Allelic polymorphism of endothelial NO-synthase gene and its functional activity].

Abstract Investigation of phenotypic realization of the eNOS gene allelic polymorphism has shown that eNOS RNA content and eNOS activity in platelets depends on genotype. Using the reverse transcription and polymerase chain reaction it was shown that eNOS mRNA content is the lowest at -786C/C promoter's genotype. In exon 7 homozygotes (894T/T) the RNA level is lower than in normal homozygotes (894G/G), but it is higher than in heterozygotes (894G/T). Contrary, at intron 4 polymorphism the RNA level in the platelets from people with 4a/4a genotype is higher than in normal homozygotes and heterozygotes. Measuring of eNOS activity in platelets using diaminofluorescein diacetate (DAF-2A) showed that in carriers of 786C/C promoter genotype NO-producing activity is 2.1 times lower than in normal homozygotes (P=0.03) and 2.9 times lower comparing to heterozygotes (P>0.05). eNOS activity at 894T/T variant of 7-th exon is also lower than in normal homozygotes (P>0.05). Analogous data has been obtained while comparing eNOS activity at intron 4 polymorphism--enzyme activity was 1.7 times lower in carriers of 4a/4a genotype comparing to normal homozygotes (P>0.05) and 1.9 times lower than in heterozygotes (P>0.05). Data obtained permits to conclude, that T-786-->C polymorphism of eNOS gene promoter effects the gene expression and eNOS activity the most significantly.