title: [ALLELIC VARIANT FREQUENCY OF PROMOTER (G(-47)-->A) γ-CRYSTALLIN GENE AFFECTS THE LEVEL OF ITS EXPRESSION IN PLATELETS].
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.
authors.forename: S A
authors.initials: SA
authors.lastname: Rykov
authors.forename: Y Y
authors.initials: YY
authors.lastname: Byts
authors.forename: S V
authors.initials: SV
authors.lastname: Goncharov
authors.forename: V E
authors.initials: VE
authors.lastname: Dosenko
mesh_terms: D000483:Alleles; D001792:Blood Platelets / Q000737:chemistry / Q000378:metabolism*; D016022:Case-Control Studies; D002386:Cataract / Q000235:genetics* / Q000473:pathology; D015870:Gene Expression; D005787:Gene Frequency; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D009061:Mouth Mucosa / Q000737:chemistry; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D012333:RNA, Messenger / Q000235:genetics*; D038222:gamma-Crystallins / Q000235:genetics*
chemical_list: D012333:RNA, Messenger; C107738:crystallin, gammaB; D038222:gamma-Crystallins