Suppr超能文献

[格鲁吉亚两个地区VKORC1和CYP2C9基因多态性的频率]

[FREQUENCY OF POLYMORPHISM OF VKORC1 AND CYP2C9 GENES IN TWO REGIONS OF GEORGIA].

作者信息

Jokhadze T, Kakauridze N, Buadze T, Gaiozishvili M, Lezhava T

机构信息

Iv. Javakhishvili Tbilisi State University; Tbilisi State Medical University, Georgia.

出版信息

Georgian Med News. 2016 Jan(250):46-51.

Abstract

The aim of the research was to study the frequency of VKROC1 and CYP2C9 genes different alleles for healthy donors and for patients with thrombosis, in two regions of Georgia - in Samegrelo and in Tbilisi and to reveal the interdependence of the studied genes products in the treatment of thrombosis with warfarin. Warfarin is an anticoagulant, causing the inactivation of the VKORC1 gene product, which is one of the clotting factors. The protein product of CYP2C9 gene is involved in the metabolism of warfarin. Genotyping of blood samples for studied genes alleles was carried out using a tube scanner (ESE Quant Tube Scaner), allowing to identify SNPs. In the studied group of patients with thrombosis from Samegrelo region the wild-type homozygotes by the gene VKORC1 were - 90%; heterozygotes - 10%; mutant homozygotes have not met at all. In the studied group of patients with thrombosis from Tbilisi, also predominated homozygous wild type (60%); heterozygotes were - 40%; mutant homozygotes were not met. The genotypes of healthy donors fromTbilisi does not differed from the same indicator of of Samegrelo (homozygous "wild" AA - 37%; genotype AB - 47%; and mutant genotype - BB - 16%). In patients with thrombosis, from Samegrelo, wild-tipe homozygotes and heterozygotes by CYP2C9 gene were almost the same rate (51% and 49% -, respectively); mutant homozygotes were not revealed. In patients from Tbilisi, the frequency of wild-type homozygotes was 70%, heterozygotes and mutant homozygotes was 20% and 10% - respectively. The ratio of the frequencies of CYP2C9 gene alleles in healthy donors from Tbilisi and Samegrelo is not different - wild-type homozygotes - 77%; heterozygotes - 23%; mutant homozygotes in both regions were not met. VKORC1 and / or CYP2C9 genes polymorphisms are presented in a number of clinical dosing algorithms and in prospective clinical trials. It is revealed the significant variation of genotypes in patients with thrombosis (in both studied regions), which indicates the importance of as in treatment process, as well as for the prevention of thrombosis.

摘要

该研究的目的是在格鲁吉亚的两个地区——萨梅格列罗和第比利斯,研究健康献血者和血栓形成患者中VKROC1和CYP2C9基因不同等位基因的频率,并揭示在使用华法林治疗血栓形成过程中所研究基因产物之间的相互关系。华法林是一种抗凝剂,可导致凝血因子之一VKORC1基因产物失活。CYP2C9基因的蛋白质产物参与华法林的代谢。使用管扫描仪(ESE Quant Tube Scaner)对所研究基因的等位基因进行血样基因分型,以识别单核苷酸多态性(SNP)。在萨梅格列罗地区所研究的血栓形成患者组中,VKORC1基因的野生型纯合子占90%;杂合子占10%;未发现突变型纯合子。在第比利斯所研究的血栓形成患者组中,同样以纯合野生型为主(60%);杂合子占4-%;未发现突变型纯合子。第比利斯健康献血者的基因型与萨梅格列罗的相同指标无差异(纯合“野生”型AA占37%;基因型AB占47%;突变基因型BB占16%)。在萨梅格列罗的血栓形成患者中,CYP2C9基因的野生型纯合子和杂合子比例几乎相同(分别为51%和49%);未发现突变型纯合子。在第比利斯的患者中,野生型纯合子的频率为70%,杂合子和突变型纯合子分别为20%和10%。第比利斯和萨梅格列罗健康献血者中CYP2C9基因等位基因频率的比例无差异——野生型纯合子占77%;杂合子占23%;两个地区均未发现突变型纯合子。VKORC1和/或CYP2C9基因多态性在一些临床给药算法和前瞻性临床试验中有所体现。研究发现血栓形成患者(在两个研究地区)的基因型存在显著差异,这表明其在治疗过程以及血栓预防中都具有重要意义。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验