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Identification of genetic markers of predisposition to thrombogenic diseases by minisequencing analysis: reagent set “SNP2-TMG”

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1. 标题 文档的标题 Identification of genetic markers of predisposition to thrombogenic diseases by minisequencing analysis: reagent set “SNP2-TMG”
2. 创建者 作者姓名,工作单位,国家 А. Grudo; State scientific institution “Institute of Bioorganic Chemistry of the National Academy of Sciences of Belarus”; 白俄罗斯
2. 创建者 作者姓名,工作单位,国家 I. Haidukevich; State scientific institution “Institute of Bioorganic Chemistry of the National Academy of Sciences of Belarus”; 白俄罗斯
2. 创建者 作者姓名,工作单位,国家 G. Sergeev; State scientific institution “Institute of Bioorganic Chemistry of the National Academy of Sciences of Belarus”; 白俄罗斯
3. 主题 学科
3. 主题 关键词 thrombogenic diseases; gene polymorphism; SNP; minisequencing technique; SNaPshot
4. 描述 摘要

Thrombogenic risk factors (blood coagulation disorders and thrombophilia) are the cause of cardiovascular diseases, among which genetic factors are worth highlighting (genetic polymorphism of the blood coagulation system, angiogenesis factors, components of the lipid metabolism system). Early identification of clinically significant polymorphisms in genes that cause predisposition to thrombogenic diseases allows for preventive measures and timely diagnosis even before the onset of the clinical picture of the disease, and for patients with an already confirmed diagnosis genetic diagnostics makes it possible to check the hereditary nature of the disease, select treatment tactics, predict the risk of developing of adverse drug reactions. This article describes the process of developing the “SNP2-TMG” kit, designed to identify ten genetic markers of susceptibility to thrombogenic diseases (rs1801131, rs6025, rs11549465, rs429358, rs7412, rs1799963, rs6050, rs1799762, rs2010963, rs1801133), by minisequencing technique (SNaPshot technology). This kit has passed clinical trials and is approved for medical use.

5. 出版商 组织机构,地点 The Russian Academy of Sciences
6. 合作者 主管
7. 日期 (YYYY-MM-DD) 03.06.2025
8. 类型 现状与流派 同行评议的文章
8. 类型 类型 来源文章
9. 格式 文件格式
10. 识别码 环球资源指标 https://rjraap.com/0026-8984/article/view/682876
10. 识别码 Digital Object Identifier (DOI) 10.31857/S0026898425020031
10. 识别码 eLIBRARY Document Number (EDN) GGTFSD
11. 期刊/会议标题 ; 卷., 期. (年) Molekulârnaâ biologiâ; 卷 59, 编号 2 (2025)
12. 语言 English=en ru
13. 关系 补充文件 Supplementary (1MB)
Fig. 1. Electrophoretic separation of amplification products of individual markers and multiplex reaction of Multiplex 1 of the SNP2-TMG kit in 10% polyacrylamide gel. “–” – negative control; 1 – rs7412 + rs429358; 2 – rs11549465; 3 – rs6025; 4 – rs1801131; 5 – multiplex reaction 1; St. – DNA fragment length standard 100–1000 bp (No. SM0241, Thermo Scientific). (89KB)
Fig. 2. Electrophoretic separation of amplification products of individual markers and multiplex reaction of Multiplex 2 of the SNP2-TMG kit in 10% polyacrylamide gel. “–” – negative control; 1 – rs2010963; 2 – rs6050; 3 – rs1799963; 4 – rs1801133; 5 – rs1799762; 6 – multiplex reaction 2. St. – DNA fragment length standard of 100–1000 bp (No. SM0241, Thermo Scientific). (130KB)
Fig. 3. Multiplex PCR 1 and 2 with different initial concentrations (1–20 ng) of human DNA in the reaction mixture. “–” – negative control, St. – DNA fragment length standard of 100–1000 bp (No. SM0241, Thermo Scientific). (114KB)
Fig. 4. Result of multiplex minisequencing of an arbitrary DNA sample using Plex SSHOT1 (a) and Plex SSHOT2 (b). Colored bars indicate bins of each possible nucleotide. (323KB)
14. 范围 地理位置、年代时期、调查样本(性别、年纪等等)
15. 权力 版权及权限 版权所有 © Russian Academy of Sciences, 2025