Erquiaga Ignacio, Hurtado Cristina, Aranaz Paula, Novo Francisco J, Vizmanos José L
Department of Biochemistry and Genetics, University of Navarra, Pamplona, Spain.
Biotechniques. 2014 Jun 1;56(6):327-9. doi: 10.2144/000114180. eCollection 2014 Jun.
When studying mutations in DNA samples, determining whether novel sequence changes are somatic mutations or germline polymorphisms can be difficult. Here we describe a novel and very simple approach for identification of somatic mutations and loss of heterozygosity (LoH) events in DNA samples where no matched tissue sample is available. Our method makes use of heterozygous polymorphisms that are located near the putative mutation to trace both germinal alleles.
在研究DNA样本中的突变时，确定新的序列变化是体细胞突变还是种系多态性可能很困难。在这里，我们描述了一种新颖且非常简单的方法，用于在没有匹配组织样本的情况下识别DNA样本中的体细胞突变和杂合性缺失（LoH）事件。我们的方法利用位于假定突变附近的杂合多态性来追踪两个生殖等位基因。
