Wang Fengfei, Wang Lilin, Briggs Christine, Sicinska Ewa, Gaston Sandra M, Mamon Harvey, Kulke Matthew H, Zamponi Raffaella, Loda Massimo, Maher Elizabeth, Ogino Shuji, Fuchs Charles S, Li Jin, Hader Carlos, Makrigiorgos G Mike
Department of Radiation Oncology, Dana Farber Cancer Institute, Boston, MA 02115, USA.
J Mol Diagn. 2007 Sep;9(4):441-51. doi: 10.2353/jmoldx.2007.070004. Epub 2007 Aug 9.
The need to apply modern technologies to analyze DNA from diverse clinical samples often stumbles on suboptimal sample quality. We developed a simple approach to assess DNA fragmentation in minute clinical samples of widely different origin and the likelihood of success of degradation-tolerant whole genome amplification (restriction and circularization-aided rolling circle amplification, RCA-RCA) and subsequent polymerase chain reaction (PCR). A multiplex PCR amplification of four glyceraldehyde-3-phosphate dehydrogenase amplicons of varying sizes was performed using genomic DNA from clinical samples, followed by size discrimination on agarose gel or fluorescent denaturing high-performance liquid chromatography (dHPLC). RCA-RCA followed by real-time PCR was also performed, for correlation. Even minimal quantities of longer PCR fragments ( approximately 300 to 400 bp), visible via high-sensitivity fluorescent dHPLC or agarose gel, were essential for the success of RCA-RCA and subsequent PCR-based assays. dHPLC gave a more accurate correlation between DNA fragmentation and sample quality than agarose gel electrophoresis. Multiplex-PCR-dHPLC predicted correctly the likelihood of assay success in formalin-fixed, paraffin-embedded samples fixed under controlled conditions and of different ages, in laser capture microdissection samples, in tissue print micropeels, and plasma-circulating DNA. Estimates of the percent information retained relative to snap-frozen DNA are derived for real-time PCR analysis. The assay is rapid and convenient and can be used widely to characterize DNA from any clinical sample of unknown quality.
将现代技术应用于分析来自各种临床样本的DNA时,往往会因样本质量欠佳而受阻。我们开发了一种简单的方法,用于评估来源广泛且差异很大的微量临床样本中的DNA片段化情况,以及耐降解全基因组扩增(限制性内切酶和环化辅助滚环扩增,RCA-RCA)及后续聚合酶链反应(PCR)成功的可能性。使用临床样本的基因组DNA对四个不同大小的甘油醛-3-磷酸脱氢酶扩增子进行多重PCR扩增,随后在琼脂糖凝胶上进行大小区分或采用荧光变性高效液相色谱法(dHPLC)。还进行了RCA-RCA后接实时PCR,以作相关性分析。即使是通过高灵敏度荧光dHPLC或琼脂糖凝胶可见的极少量较长PCR片段(约300至400 bp),对于RCA-RCA及后续基于PCR的检测成功也至关重要。与琼脂糖凝胶电泳相比,dHPLC在DNA片段化与样本质量之间给出了更准确的相关性。多重PCR-dHPLC正确预测了在受控条件下固定的不同年龄的福尔马林固定石蜡包埋样本、激光捕获显微切割样本、组织印片微剥离样本以及血浆循环DNA中检测成功的可能性。得出了相对于速冻DNA的实时PCR分析中保留的信息百分比估计值。该检测方法快速便捷,可广泛用于表征来自任何质量未知的临床样本的DNA。