[ALLELIC VARIANT FREQUENCY OF PROMOTER (G(-47)-->A) γ-CRYSTALLIN GENE AFFECTS THE LEVEL OF ITS EXPRESSION IN PLATELETS]

Fiziol Zh (1994). 2015;61(4):30-4. doi: 10.15407/fz61.04.030.
[Article in Ukrainian]

Abstract

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.

Publication types

  • English Abstract

MeSH terms

  • Alleles
  • Blood Platelets / chemistry
  • Blood Platelets / metabolism*
  • Case-Control Studies
  • Cataract / genetics*
  • Cataract / pathology
  • Gene Expression
  • Gene Frequency
  • Genotype
  • Heterozygote
  • Homozygote
  • Humans
  • Mouth Mucosa / chemistry
  • Polymorphism, Single Nucleotide*
  • Promoter Regions, Genetic*
  • RNA, Messenger / genetics*
  • gamma-Crystallins / genetics*

Substances

  • RNA, Messenger
  • crystallin, gammaB
  • gamma-Crystallins