Gómez Juan, Reguero Julian R, Morís César, Alvarez Victoria, Coto Eliecer
Genética Molecular-Laboratorio de Medicina-Fundación Renal (IRSIN-FRIAT), Hospital Universitario Central Asturias, 33006, Oviedo, Spain.
J Cardiovasc Transl Res. 2014 Feb;7(1):133-7. doi: 10.1007/s12265-013-9516-6. Epub 2013 Nov 5.
DNA variants at the genes encoding cardiac channels have been associated with inherited arrhythmias and the QT interval in the general population. Next generation sequencing technologies would be of special interest to uncover the genetic variation at these genes. The amplification and sequencing of DNA pools (instead of single individuals) would facilitate the rapid and cost-effective screening of large amounts of individuals. However, this pooling strategy could result in a signal of the rare variants below the detection capacity. To validate this approach, a pool of 20 individuals with known rare unique variants in five genes was amplified in only two tubes and sequenced using the non optical semi-conductor (Ion Torrent PGM, Life Technologies) technology. We show that this could be an effective strategy for the screening of large cohorts. Among others, this would facilitate the discovery of new sequence variants linked to cardiac arrhythmia in the general population.
编码心脏通道的基因中的DNA变异与普通人群中的遗传性心律失常和QT间期有关。新一代测序技术对于揭示这些基因的遗传变异将具有特殊意义。DNA池（而非单个个体）的扩增和测序将有助于快速且经济高效地筛查大量个体。然而，这种混合策略可能导致罕见变异的信号低于检测能力。为验证此方法，在仅两个试管中对20名个体的混合样本进行扩增，这些个体在五个基因中具有已知的罕见独特变异，并使用非光学半导体（Ion Torrent PGM，Life Technologies）技术进行测序。我们表明，这可能是筛查大型队列的有效策略。除此之外，这将有助于发现普通人群中与心律失常相关的新序列变异。
