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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