ALLELIC VARIANT FREQUENCY OF PROMOTER (G-47→A) γ-CRYSTALLIN GENE AFFECTS THE LEVEL OF ITS EXPRESSION IN PLATELETS
S.A. Rykov1, Y.Y. Byts1, S.V. Goncharov2, V.E. Dosenko2
- “Eye Microsurgery Center”, Kyiv;
- O.O. Bogomoletz Institute of Physiology National Academy of Sciences of Ukraine, Kyiv
To investigate the genetical precursors of cataract development
the next groups were included: patients suffering from cataract
(96) and 96 healthy persons. The determination of γ-crystallin
polymorphism (G-47→A) (rs2289917) was provided using
PCR method and further analyses of restriction fragment length
polymorphism. These allelic variants have the significant different:
G/G - 35,37 %, G/A - 53,66 %, A/A - 10,98 %, and
G/G - 55,06 %, G/A - 35,96 %, A/A - 8,99 % comparing with
the control group (P=0,03, by χ2-test). While investigating the
level of expression of γ-crystallin gene (CRYGB) in platelets,
showed that the quantity of mRNA in homozygotes G/G in 3,9
times (P<0,05) higher than in carriers of A allele (genotype
G/A and A/A). This paper shows the significant difference
in distribution of CRYGB promoter (G-47→A) genotypes in
patients with cataract compared to the control group. Furthermore,
here we provide the data concerning its functional
meaning: level of mRNA expression of crystallin is different
in carriers of various CRYGB promoter (G-47→A) genotypes.
crystallin; single nucleotide polymorphism; cataract.
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