Picher Ángel J, Hernández Félix, Budeus Bettina, Soriano Eduardo, Avila Jesús
Expedeon S.L.U., Parque Científico de Madrid, Cantoblanco, Madrid, Spain.
Centro de Biología Molecular Severo Ochoa (CSIC-UAM), Madrid, Spain.
J Alzheimers Dis Rep. 2018 May 31;2(1):103-109. doi: 10.3233/ADR-170039.
Genetic factors may be involved in the onset of neurodegenerative diseases like Alzheimer's disease. In the case of the familial type, the disease is due to an inherited mutation at specific sites in three genes. Also, there are some genetic risk factors that facilitate the development of sporadic Alzheimer's disease. All of these genetic analyses were performed using blood samples as a source of DNA. However, the presence of somatic mutations in the brain can be identified only using brain samples. In this review, we comment on a method that correctly identifies single nucleotide variations in the human brain and that can be used to validate high-through sequencing techniques. This method involves selective enrichment of the DNA population bearing the nucleotide variations, thereby facilitating posterior validation of the data by Sanger's sequencing.
遗传因素可能与阿尔茨海默病等神经退行性疾病的发病有关。在家族性类型中，该疾病是由三个基因特定位点的遗传突变引起的。此外，还有一些遗传风险因素会促进散发性阿尔茨海默病的发展。所有这些遗传分析都是使用血液样本作为DNA来源进行的。然而，只有使用脑样本才能识别大脑中的体细胞突变。在这篇综述中，我们评论了一种能够正确识别人类大脑中单个核苷酸变异并可用于验证高通量测序技术的方法。该方法涉及对携带核苷酸变异的DNA群体进行选择性富集，从而便于通过桑格测序对数据进行后续验证。
