{"title":"[启动子(g(-47)—> a) γ-晶体蛋白基因等位基因变异频率影响其在血小板中的表达水平]。","authors":"S. Rykov, Y. Y. Byts, S. Goncharov, V. Dosenko","doi":"10.15407/FZ61.04.030","DOIUrl":null,"url":null,"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.","PeriodicalId":12306,"journal":{"name":"Fiziolohichnyi zhurnal","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2015-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":"{\"title\":\"[ALLELIC VARIANT FREQUENCY OF PROMOTER (G(-47)-->A) γ-CRYSTALLIN GENE AFFECTS THE LEVEL OF ITS EXPRESSION IN PLATELETS].\",\"authors\":\"S. Rykov, Y. Y. Byts, S. Goncharov, V. Dosenko\",\"doi\":\"10.15407/FZ61.04.030\",\"DOIUrl\":null,\"url\":null,\"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.\",\"PeriodicalId\":12306,\"journal\":{\"name\":\"Fiziolohichnyi zhurnal\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2015-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Fiziolohichnyi zhurnal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.15407/FZ61.04.030\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Fiziolohichnyi zhurnal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.15407/FZ61.04.030","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
[ALLELIC VARIANT FREQUENCY OF PROMOTER (G(-47)-->A) γ-CRYSTALLIN GENE AFFECTS THE LEVEL OF ITS EXPRESSION IN PLATELETS].
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.