Heinrich Marielle, Müller Miriam, Rand Steven, Brinkmann Bernd, Hohoff Carsten
Institut für Rechtsmedizin, Universitätsklinikum Münster, Röntgenstrasse 23, 48149 Münster, Germany.
Int J Legal Med. 2004 Dec;118(6):361-3. doi: 10.1007/s00414-004-0473-0. Epub 2004 Aug 20.
In the course of routine genotyping of forensic reference samples by multiplex PCR, an allelic drop-out due to mutations in the primer binding regions of the highly polymorphic STR marker ACTBP2 was observed in 17 samples. The variation rate was estimated to be 0.0014 (95% confidence interval: 0.0006-0.003). The most frequently found mutation was an G to A transition in the reverse primer binding region which was present in 14 out of 17 cases. To overcome the problem we have added a modified reverse primer to different multiplex kits that led to the correct genotype.
在通过多重PCR对法医参考样本进行常规基因分型的过程中，在17个样本中观察到由于高度多态性STR标记ACTBP2的引物结合区域发生突变而导致的等位基因脱失。变异率估计为0.0014（95%置信区间：0.0006 - 0.003）。最常发现的突变是反向引物结合区域中从G到A的转换，在17例中有14例出现。为克服该问题，我们已在不同的多重试剂盒中添加了改良的反向引物，从而得到正确的基因型。
