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Портал Begell Электронная Бибилиотека e-Книги Журналы Справочники и Сборники статей Коллекции
International Journal of Physiology and Pathophysiology
SJR: 0.116

ISSN Печать: 2155-014X
ISSN Онлайн: 2155-0158

Archives: Volume 1, 2010 to Volume 9, 2018

International Journal of Physiology and Pathophysiology

DOI: 10.1615/IntJPhysPathophys.v7.i3.60
pages 239-245

Allelic Variant Frequency of Promoter (G-47→A) γ-Crystallin Gene Affects the Level of Its Expression in Platelets

S. A. Rykov
Kyiv municipal ophthalmology hospital "Eye Microsurgery Center", Ukraine
Yyriy Y. Byts
Kyiv municipal ophthalmology hospital "Eye Microsurgery Center", Ukraine
Sergii V. Goncharov
Bogomoletz Institute of Physiology, NAS of Ukraine, Kyiv, Ukraine
Viktor E. Dosenko
Bogomolets Institute of Physiology, National Academy of Sciences of Ukraine, Kyiv, Ukraine

Краткое описание

To investigate the genetic precursors of cataract development, the next groups were included: 96 patients suffering from cataract and 96 healthy persons. The determination of γ-crystallin polymorphism (G-47→A) (rs2289917) was provided using PCR method and further analysis of restriction fragment length polymorphism. According to the genotyping results, polymorphism exhibited a significantly different distribution: G/G − 35.37%, G/A − 53.66%, A/A − 10.98% in patients suffering from cataract, and G/G − 55.06%, G/A − 35.96%, A/A − 8.99% in the control group (P = 0.03, by χ2-test). When investigating the level of expression of γ-crystallin gene (CRYGB) in the platelets, we have shown that the amount of mRNA in G/G homozygotes is 3.9 times (P < 0.05) higher than it is in the carriers of A allele (genotype G/A and A/A). We have found the significant difference in distribution of CRYGB promoter (G-47→A) genotypes in patients suffering from cataract compared to the control group. The functional meaning of the latter is to affect the level of mRNA expression of crystallin.

Ключевые слова: crystalline, single nucleotide polymorphism, cataract