基于PCR-RFLP及Sanger测序法检测抗高血压药物相关基因CACNA1C多态性  

Polymorphisms of antihypertensive drugs related gene CACNA1C detected by PCR-RFLP and Sanger sequencing

作　　者：翟英南 王洋 赵烁 徐岩 段思琪 李盈诺 王玉格 王彬 李明成 高丽君 张亚丽 潘晓明[6] ZHAI Yingnan;WANG Yang;ZHAO Shuo;XU Yan;DUAN Siqi;LI Yingnuo;WANG Yuge;WANG Bin;LI Mingcheng;GAO Lijun;ZHANG Yali;PAN Xiaoming(School of Medical Technology,Beihua University,Jilin,132013,China;The Center Hospital of Changtu;China-Japan Union Hospital of Jilin University;College of Pharmacy,Beihua University;Innovation Center for Detection Technology on DNA Fingerprint of Traditional Chinese Medicine;Jilin Central Hospital)

机构地区：[1]北华大学医学技术学院,吉林132013 [2]昌图县中心医院 [3]吉林大学中日联谊医院 [4]北华大学药学院 [5]吉林省中药DNA指纹检测技术科技创新中心 [6]吉林市中心医院

出　　处：《临床心血管病杂志》2020年第7期626-630,共5页Journal of Clinical Cardiology

基　　金：吉林省科技厅重点科技成果转化项目(No:20170307001YY);吉林市科技计划项目(No:201630220);北华大学研究生创新项目-北华研创合字(No:2018037);吉林省卫生健康技术创新项目(No:2019J041)。

摘　　要：目的:应用聚合酶链反应-限制性片段长度多态性(PCR-restriction fragment length polymorphism,PCR-RFLP)和Sanger测序法针对抗高血压药物相关基因CACNA1C rs2239128进行基因分型,对比并验证2种检测方法的一致性。方法:样本来自2018年6月-2019年7月于吉林市中心医院特需医疗中心住院的高血压患者和体检中心非高血压人群共203例。采用PCR-RFLP法和Sanger测序法检测纳入对象的CACNA1C rs2239128基因型分布情况。比较2种方法的检测结果。结果:PCR-RFLP法CACNA1C rs2239128位点CC、CT、TT基因型频率分别为45.82%、44.33%、9.85%;T、C等位基因频率分别为32.02%和67.98%。Sanger测序法CACNA1C rs2239128位点CC、CT、TT基因型频率分别为46.04%、44.44%、9.52%;T、C等位基因频率分别为31.74%和68.26%。2种方法所得结果无统计学差异。结论:PCR-RFLP与Sange测序法所测得基因分型结果具有较高的一致性。Objective:To investigate polymorphisms of the antihypertensive drug-related gene CACNA1 C rs2239128 used by PCR-Restriction fragment length polymorphisms(PCR-RFLP)and Sanger sequencing,then compare and verify the consistency of the two detection methods.Method:A total of 203 patients with or without hypertension admitted to Special Medical Center of Jilin Central Hospital from June 2018 to July 2019 were included.PCR-RFLP and Sanger sequencing were used to detect the genotype distribution of CACNA1 C rs2239128,and the results of the two methods were compared.Result:The result of PCR-RFLP detection showed that the genotype frequencies of CC,CT and TT were 45.82%,44.33%and 9.85%,the allele frequencies of T and C were 32.02%and 67.98%,respectively.Sanger sequencing showed that the genotype frequencies of CC,CT and TT were 46.04%,44.44%and 9.52%,the allele frequencies of T and C were 31.74%and 68.26%,respectively.Conclusion:There is a high consistency between PCR-RFLP and Sanger sequencing.

关 键 词：高血压 PCR-RFLP 基因多态性 CACNA1C 

分 类 号：R544.1[医药卫生—心血管疾病]