PDF(Pubmed)
Abstract：
Diagnosing imprinting defects in neonates and young children presents challenges, often necessitating molecular analysis for a conclusive diagnosis. The isolation of genetic material from oral swabs becomes crucial, especially in settings where blood sample collection is impractical or for vulnerable populations like newborns, who possess limited blood volumes and are often too fragile for invasive procedures. Oral swab samples emerge as an excellent source of DNA, effectively overcoming obstacles associated with rare diseases.
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.
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.
摘要：
背景：诊断新生儿和幼儿的印记缺陷面临挑战，通常需要分子分析才能做出决定性的诊断。从口腔拭子中分离遗传物质变得至关重要，尤其是在血液样本采集不切实际的情况下，或者对于新生儿等脆弱人群来说，他们的血容量有限，通常对侵入性手术来说太脆弱。口腔拭子样本是很好的DNA来源,有效克服与罕见疾病相关的障碍。
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。
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。
