[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]。

S. Rykov, Y. Y. Byts, S. Goncharov, V. Dosenko
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引用次数: 1

摘要

为了研究白内障发展的遗传前体,下一组包括:白内障患者(96)和健康人群(96)。采用PCR法测定γ-晶体蛋白多态性(G(-47)—>A) (rs2289917),并进一步分析限制性片段长度多态性。G/G—35.37%、G/A—53.66%、A/A—10.98%、G/G—55.06%、G/A—35.96%、A/A—8.99%与对照组比较差异有统计学意义(P = 0.03, χ2检验)。通过对血小板中γ-结晶蛋白基因(CRYGB)表达水平的研究,发现G/G纯合子的mRNA表达量是A等位基因(基因型G/A和A/A)携带者的3.9倍(P < 0.05)。本文发现白内障患者CRYGB启动子(G(-47)—>A)基因型分布与对照组有显著差异。此外,我们还提供了有关其功能意义的数据:不同CRYGB启动子(G(-47)—>A)基因型携带者的结晶蛋白mRNA表达水平是不同的。
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[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.
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