Department of Forensic Medicine, School of Basic Medical Sciences, Fudan University, Shanghai 200032, China.
Department of Biochemistry and Molecular Biology, School of Basic Medical Sciences, Fudan University, Shanghai 200032, China.
Genes (Basel). 2022 Aug 4;13(8):1386. doi: 10.3390/genes13081386.
Obtaining a full short tandem repeat (STR) profile from a low template DNA (LT-DNA) still presents a challenge for conventional methods due to significant stochastic effects and polymerase slippage. A novel amplification method with a lower cost and higher accuracy is required to improve the DNA amount. Previous studies suggested that DNA polymerases without bypass activity could not perform processive DNA synthesis beyond abasic sites in vitro and our results showed a lack of bypass activity for Phusion, Pfu and KAPA DNA polymerases in this study. Based on this feature, we developed a novel linear amplification method, termed Linear Aamplification for double-stranded DNA using primers with abasic sites near 3' end (abLAFD), to limit the replication error. The amplification efficiency was evaluated by qPCR analysis with a result of approximately a 130-fold increase in target DNA. In a LT-DNA analysis, the abLAFD method can be employed as a pre-PCR. Similar to nested PCRs, primer sets used for the abLAFD method were designed as external primers suitable for commercial multiplex STR amplification assays. The practical performance of the abLAFD method was evaluated by coupling it to a routine PP21 STR analysis using 50 pg and 25 pg DNA. Compared to reference profiles, all abLAFD profiles showed significantly recovered alleles, increased average peak height and heterozygote balance with a comparable stutter ratio. Altogether, our results support the theory that the abLAFD method is a promising strategy coupled to STR typing for forensic LT-DNA analysis.
从低模板 DNA(LT-DNA)中获得完整的短串联重复序列(STR)图谱仍然是常规方法面临的挑战,因为存在显著的随机效应和聚合酶滑动。需要一种成本更低、准确性更高的新型扩增方法来提高 DNA 量。先前的研究表明,没有旁路活性的 DNA 聚合酶无法在体外进行碱基缺失位点以外的连续 DNA 合成,我们的研究结果表明 Phusion、Pfu 和 KAPA DNA 聚合酶在该研究中缺乏旁路活性。基于这一特性,我们开发了一种新型的线性扩增方法,称为具有碱基缺失位点的引物在 3'端附近用于双链 DNA 的线性扩增(abLAFD),以限制复制错误。通过 qPCR 分析评估扩增效率,结果显示目标 DNA 约增加了 130 倍。在 LT-DNA 分析中,abLAFD 方法可作为预 PCR。与嵌套 PCR 类似,abLAFD 方法使用的引物集设计为适合商业多重 STR 扩增分析的外部引物。通过将 abLAFD 方法与常规的 PP21 STR 分析相结合,使用 50 pg 和 25 pg DNA 对 abLAFD 方法的实际性能进行了评估。与参考图谱相比,所有 abLAFD 图谱均显示出明显恢复的等位基因、增加的平均峰高和杂合子平衡,而 stutter 比率相当。总的来说,我们的研究结果支持 abLAFD 方法是一种很有前途的策略,可与法医 LT-DNA 分析中的 STR 分型相结合。