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ISSN 2522-9028 (Print)
ISSN 2522-9036 (Online)
DOI: https://doi.org/10.15407/fz

Fiziologichnyi Zhurnal

is a scientific journal issued by the

Bogomoletz Institute of Physiology
National Academy of Sciences of Ukraine

Editor-in-chief: V.F. Sagach

The journal was founded in 1955 as
1955 – 1977 "Fiziolohichnyi zhurnal" (ISSN 0015 – 3311)
1978 – 1993 "Fiziologicheskii zhurnal" (ISSN 0201 – 8489)
1994 – 2016 "Fiziolohichnyi zhurnal" (ISSN 0201 – 8489)
2017 – "Fiziolohichnyi zhurnal" (ISSN 2522-9028)

Fiziol. Zh. 2005; 51(2): 39-45

Allelic polymorphism of endothelialno-synthase gene and its functionalmeaning

V.E. Dosenko, V.Yu. Zagoriy, N.V. Haitovich, O.A. Gordok, O.O. Moibenko

    O.O.Bogomoletz Institute of Physiology, National Academyof Science of Ukraine, Kyiv



Abstract

Investigation of phenotypic realization of the eNOS gene al- lelic 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 -786С/С promoter’s genotype. In exon 7 homozygotes (894Т/Т) 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 4а/4а genotype is higher than in normal homozygotes and heterozygotes. Measuring of eNOS activi- ty in platelets using diaminofluorescein diacetate (DAF-2А) showed that in carriers of 786С/С promoter genotype NO- producing activity is 2.1 times lower than in normal homozygotes (Р=0.03) and 2.9 times lower comparing to hete- rozygotes (Р>0.05). еNOS activity at 894Т/Т variant of 7-th exon is also lower than in normal homozygotes (Р>0.05). Analo- gous data has been obtained while comparing eNOS activity at intron 4 polymorphism – enzyme activity was 1.7 times lower in carriers of 4а/4а 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 Т-786 С polymor- phism of eNOS gene promoter effects the gene expression and eNOS activity the most significantly

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