多重PCR-LDR检测CVD患者抗CVD药物代谢相关的19个SNPs多态性

Pub Date : 2020-01-02 DOI:10.31901/24566330.2020/20.01.741
H. Cao
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引用次数: 0

摘要

心血管疾病(CVD)是世界范围内对人类健康的威胁,在所有死因中死亡率最高。由于不同的遗传背景,CVD治疗药物的效果在不同人群中差异很大。为了评估CVD患者在服药前进行基因检测的必要性,采用PCR-LDR方法在237名CVD患者中选择并检测了19个影响常用抗CVD药物代谢的SNPs。结果表明,大多数SNPs的基因型分布符合Hardy-Weinberg原理。测试样本中SNPs的等位基因分布与中国人群相似。78%的患者携带至少一个影响药物疗效的等位基因。PCR-LDR检测临床样本的准确性与Sanger测序相当,具有更高的多样性和更低的成本。
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Detection of the Polymorphism of 19 SNPs Associated with the Metabolism of Anti-CVD Drugs by Multiplex PCR-LDR in CVD Patients
Cardiovascular diseases (CVD) are worldwide threat to human health, resulting in the highest mortality among all causes of death. The effect of therapeutic medicines for CVD varies greatly among people because of their different genetic background. In order to evaluate the necessity of having genetic testing before taking medicines in CVD patients, 19 SNPs influencing the metabolism of frequently-used anti-CVD drugs were selected and detected in 237 CVD patients by PCR-LDR method. The results showed that the genotypic distribution of most SNPs met the Hardy–Weinberg principle. The allelic distribution of the SNPs in the tested samples was similar to that in Chinese population. 78 percent of these patients carried at least one allele that affected the efficacy of the medicines. The accuracy of the PCR-LDR detection for the clinical samples was comparable to that of Sanger sequencing, and with higher multiplexity and lower cost.
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