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International Journal of Physiology and Pathophysiology

年間 4 号発行

ISSN 印刷: 2155-014X

ISSN オンライン: 2155-0158

SJR: 0.116

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

巻 7, 発行 3, 2016, pp. 239-245
DOI: 10.1615/IntJPhysPathophys.v7.i3.60
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要約

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.

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