| 华北地区CYP1A2基因常见SNP位点的分布 |
| 投稿时间：2015-11-27 修订日期：2015-12-27 点此下载全文 |
| 引用本文：辛勤,梁国威,邵冬华.华北地区CYP1A2基因常见SNP位点的分布[J].医学研究杂志,2016,45(7):112-115 |
| DOI：
10.11969/j.issn.1673-548X.2016.07.030 |
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| 中文摘要:目的 建立CYP1A2基因-3860G >A、-3113G >A、-2467delT、-739T >G、-163C >A、2321G >C、5347C >T等7个SNP位点的检测方法，探讨7个SNP位点在华北地区人群中的分布。方法 选取健康受试者，提取全血样本DNA，以Primer Premier 5软件自设计引物及探针，采用扩增阻滞突变系统（ARMS）结合TaqMan探针技术（ARMS-TaqMan法）建立CYP1A2基因7个SNP位点基因分型方法。结果 -3860G >A、-3113G >A、-2467delT、-739T >G、-163C >A、2321G >C、5347C >T7个SNP位点的突变等位基因频率分别为0.292、0.078、0.524、0.078、0.657、0.148、0.127。结论 成功建立7个SNP位点的ARMS-TaqMan基因分型方法，该方法具有准确、操作简单、高通量等优势。 |
| 中文关键词:CYP1A2|基因多态性|扩增阻滞突变系统|TaqMan探针 |
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| Distribution of SNP Sites of CYP1A2 Gene in North China |
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| Abstract:Objective To establish methods to analyze the 7 single nucleotide polymorphism (SNP) sites of CYP1A2 gene, including -3860G >A, -3113G >A, -2467delT, -739T >G, -163C >A, 2321G >C, 5347C >T. To explore the distribution of seven SNP sites in North China. Methods The DNA was extracted from the blood samples of healthy subjects. We designed the primers and probes by Primer Premier 5 software, and established the methods to detect the 7 SNP sites of CYP1A2 gene using amplification refractory mutation system (ARMS) combined with TaqMan probe technique (ARMS-TaqMan method). Results The mutant allele frequencies of the 7 SNP sites including -3860G >A, -3113G >A, -2467delT, -739T >G, -163C >A, 2321G >C, 5347C >T were 0.292,0.078,0.524,0.078,0.657,0.148,0.127, respectively. Conclusion We successfully established the ARMS-TaqMan methods to detect the 7 SNP sites of CYP1A2 gene. The method was accurate, simple and high throughput. |
| keywords:CYP1A2|Polymorphism|Amplification refractory mutation system|TaqMan probe |
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