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开发一种 T-ARMS-PCR 检测伊拉克乳腺癌患者过氧化氢酶(rs7943316)基因遗传多态性的方法。

Development of a T-ARMS-PCR Assay for Detecting Genetic Polymorphism in the Catalase (rs7943316) Gene in the Iraqi Population with Breast Cancer.

机构信息

Department of Chemistry, College of Education, University of Al-Qadisiyah, Al-Qadisiyah City, Iraq.

Department of biology, College of science, University of Baghdad, Baghdad City, Iraq.

出版信息

Asian Pac J Cancer Prev. 2023 Sep 1;24(9):3283-3289. doi: 10.31557/APJCP.2023.24.9.3283.

DOI:10.31557/APJCP.2023.24.9.3283
PMID:37774083
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10762760/
Abstract

Numerous investigations have demonstrated that oxidative stress is markedly increased in breast cancer patients compared to their healthy counterparts. Catalase (CAT), a crucial antioxidant enzyme, plays a pivotal role in safeguarding cells against oxidative damage initiated by reactive oxygen species (ROS). The CAT (rs7943316) gene encodes catalase, and certain genetic variations in this gene have been observed to modify catalase activity and levels. Such changes can lead to an altered response to oxidative stress, potentially increasing the risk of breast cancer. In light of this, a novel tetra-primer amplification-refractory mutation system (T-ARMS)-PCR assay was developed to investigate the possible correlation between the CAT (rs7943316) gene polymorphism and the development of breast cancer in patients. This method employs a one-step PCR, which is faster, more cost-effective, and more precise than existing techniques. Sanger sequencing was performed to validate the accuracy of our findings. The T-ARMS-PCR assay revealed a significant association between the A/T allele of the CAT (rs7943316) gene and breast cancer. Specifically, individuals with the TT genotype had a higher risk of developing breast cancer than those with the AA genotype. The T allele frequency was greater among breast cancer patients than in the control group, and genotype frequencies were consistent with the principles of the Hardy-Weinberg Equilibrium. This study is the first to showcase a rapid, cost-effective, and high-throughput method for detecting the SNP in the CAT (rs7943316) gene. This method has the potential to be employed in large-scale clinical trials.

摘要

大量研究表明,与健康对照组相比,乳腺癌患者的氧化应激明显增加。过氧化氢酶 (CAT) 是一种重要的抗氧化酶,在保护细胞免受活性氧 (ROS) 引发的氧化损伤方面发挥着关键作用。CAT(rs7943316) 基因编码过氧化氢酶,该基因的某些遗传变异被观察到可以改变过氧化氢酶的活性和水平。这些变化可能导致对氧化应激的反应改变,从而增加患乳腺癌的风险。有鉴于此,开发了一种新的四引物扩增受阻突变系统 (T-ARMS)-PCR 检测方法,以研究 CAT(rs7943316) 基因多态性与患者乳腺癌发展之间的可能相关性。该方法采用一步式 PCR,比现有技术更快、更经济、更精确。通过 Sanger 测序验证了我们研究结果的准确性。T-ARMS-PCR 检测方法表明,CAT(rs7943316) 基因的 A/T 等位基因与乳腺癌之间存在显著关联。具体而言,与 AA 基因型相比,TT 基因型个体患乳腺癌的风险更高。乳腺癌患者的 T 等位基因频率高于对照组,基因型频率符合 Hardy-Weinberg 平衡原则。这项研究首次展示了一种快速、经济高效、高通量的方法来检测 CAT(rs7943316) 基因中的 SNP。这种方法有可能在大规模临床试验中使用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b772/10762760/6d2dcc7aba4d/APJCP-24-3283-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b772/10762760/0bd30e9a0771/APJCP-24-3283-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b772/10762760/8b7fb2e68171/APJCP-24-3283-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b772/10762760/6d2dcc7aba4d/APJCP-24-3283-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b772/10762760/0bd30e9a0771/APJCP-24-3283-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b772/10762760/8b7fb2e68171/APJCP-24-3283-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b772/10762760/6d2dcc7aba4d/APJCP-24-3283-g003.jpg

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本文引用的文献

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