Oberacher Herbert, Parson Walther
Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria.
Biotechniques. 2007 Oct;43(4):vii-xiii. doi: 10.2144/000112581.
The determination of the molecular mass of a DNA sequence has several benefits over conventional fragment-length analysis that are advantageous to the forensic field: (i) sequence variation is captured that increases the power of discrimination compared with that obtained by conventional fragment-length analysis. First experiments showed that this increase makes up to 20%-30% for STR analysis. The new technical approach does not invalidate established developments and data, but adds to this information with additional discriminative categories. (ii) ICEMS is faster and cheaper than electrophoresis, does not require internal size standards, allelic ladders, or spectral calibration, which are necessary for fluorescence-based electrophoresis. (iii) ICEMS can unequivocally detect any single sequence variation in DNA molecules with lengths up to 250 nucleotides. This allows for maximum discrimination of forensically relevant DNA fragments, covering all sorts of STRs, SNPs, and also the analysis of the hypervariable segments of mtDNA. More effort, however, needs to be put into software development that escorts the analysis and data interpretation processes to make this technology manageable for the practical user.
与传统的片段长度分析相比，确定DNA序列的分子量有几个优点，这些优点对法医领域有利：（i）捕获了序列变异，与传统片段长度分析相比，增加了鉴别力。初步实验表明，对于STR分析，这种增加可达20%-30%。这种新技术方法不会使已有的进展和数据无效，而是通过额外的鉴别类别增加这些信息。（ii）ICEMS比电泳更快、更便宜，不需要基于荧光的电泳所需的内部尺寸标准、等位基因阶梯或光谱校准。（iii）ICEMS可以明确检测长度达250个核苷酸的DNA分子中的任何单序列变异。这允许对法医相关的DNA片段进行最大程度的鉴别，涵盖各种STR、SNP，以及线粒体DNA高变区的分析。然而，需要在软件开发方面投入更多努力，以辅助分析和数据解释过程，使该技术对实际用户来说易于管理。
