In our study, we specifically addressed the determination of the quality and quantity of DNA extracted from oral swab samples using NaCl procedures.
We compared these results with extractions performed using a commercial kit. Subsequently, the obtained material underwent MS-HRM analysis for loci associated with imprinting diseases such as Prader-Willi and Angelman syndromes.
Our study emphasizes the significance of oral swab samples as a reliable source for obtaining DNA for MS-HRM analysis. NaCl extraction stands out as a practical and cost-effective method for genetic studies, contributing to a molecular diagnosis that proves particularly beneficial for patients facing delays in characterization, ultimately influencing their treatment.
方法:在我们的研究中,我们专门讨论了使用NaCl程序从口腔拭子样品中提取的DNA的质量和数量的确定。
结果:我们将这些结果与使用商业试剂盒进行的提取进行了比较。随后,对获得的材料进行了MS-HRM分析,分析了与Prader-Willi和Angelman综合征等印记疾病相关的基因座。
结论:我们的研究强调了口腔拭子样本作为获得MS-HRM分析DNA的可靠来源的重要性。NaCl提取是一种实用且经济有效的遗传研究方法,有助于分子诊断,证明对面临表征延迟的患者特别有益,最终影响他们的治疗。