Allelic polymorphism of endothelial NO-synthase gene and its functional manifestations.

Investigation of the mechanisms of phenotypic realization of allelic polymorphism of the eNOS gene has shown that the level of eNOS mRNA and activity of this enzyme in platelets depends from genotype. We identified a T(-786)-->C polymorphism in the promoter region, a variable number of tandem repeats (4a/4b) in intron 4 and the G(894)-->T polymorphism in exon 7 of the eNOS gene in isolated human platelets. We measured eNOS mRNA in isolated platelets by reverse transcription-PCR and eNOS enzyme activity by fluorimetric detection system FCANOS-1 using diaminofluorescein diacetate (DAF-2A).