使用预扩增对福尔马林固定石蜡包埋组织中分离的 DNA 样本进行基因分型。
Genotyping of DNA samples isolated from formalin-fixed paraffin-embedded tissues using preamplification.
机构信息
Department of Clinical Pharmacy and Toxicology, Leiden University Medical Center, P.O. Box 9600, 2300 RA Leiden, The Netherlands.
出版信息
J Mol Diagn. 2010 Nov;12(6):746-9. doi: 10.2353/jmoldx.2010.100047. Epub 2010 Sep 16.
Abstract
DNA isolated from formalin-fixed paraffin-embedded (FFPE) tissue is often fragmented and cross-linked and is therefore difficult to genotype. To enable this source of DNA for genotyping analysis using Taqman probes, we tested whether enrichment of the target genes would increase the amount of available DNA. For enrichment of the target genes, we used preamplification by means of diluted Taqman assays. To establish the appropriateness of preamplification, we used DNA extracted from paraffin-embedded tissue and compared the genotyping results of a series of single nucleotide polymorphisms assessed in DNA samples with and without preamplification. In a subset of patients, DNA was isolated from both blood and FFPE tissue to test the reliability of genotyping results derived after preamplification. We found an increase in call rate after preamplification and a convincing concordance in genotype. Based on our findings, we can safely conclude that preamplification of DNA isolated from paraffin-embedded tissue is a valuable and reliable method to optimize genotyping results.
摘要
从福尔马林固定石蜡包埋（FFPE）组织中分离出的 DNA 常常是片段化和交联的，因此难以进行基因分型。为了能够使用 Taqman 探针对这种 DNA 来源进行基因分型分析，我们测试了是否富集目标基因会增加可用 DNA 的数量。为了富集目标基因，我们使用了稀释的 Taqman 测定法进行预扩增。为了确定预扩增的适当性，我们使用从石蜡包埋组织中提取的 DNA，并比较了在进行和不进行预扩增的 DNA 样本中评估的一系列单核苷酸多态性的基因分型结果。在一组患者中，从血液和 FFPE 组织中分离出 DNA，以测试预扩增后得出的基因分型结果的可靠性。我们发现预扩增后呼叫率增加，并且基因型具有令人信服的一致性。基于我们的发现，我们可以有把握地得出结论，即从石蜡包埋组织中分离出的 DNA 的预扩增是优化基因分型结果的一种有价值且可靠的方法。
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