Yan Jiangwei, Liu Yacheng, Tang Hui, Zhang Qingxia, Huo Zhenyi, Hu Songnian, Yu Jun
Beijing Genomics Institute, Chinese Academy of Sciences, Beijing Airport Industrial Zone B-6, Beijing, PR China.
Forensic Sci Int. 2006 Oct 16;162(1-3):53-4. doi: 10.1016/j.forsciint.2006.06.016. Epub 2006 Jul 20.
Knowledge about mutation rates and the mutational process of short-tandem-repeat (STR) or microsatellite loci used in forensic analysis is crucial for the correct interpretation of resulting genetic profiles. We analysed a total of 19,754 samples from 6532 paternity testing cases at 17 STR loci which are commonly applied to forensics. The parenthood in each of these cases was highly validated (probability>99.99%). We identified 178 mutations. Locus-specific mutation rate estimates varied between 7.0 x 10(-5) and 2.2 x 10(-3), and the overall average mutation rate estimate was 8.4 x 10(-4). The observed mutational features for STRs have important consequences for forensic application such as the definition of criterions for exclusion in paternity testing and the interpretation of DNA profiles in identification analysis. In order to enrich the reference data of STRs mutations which are valuable for forensic application, we suggest the establishment of such database and ask the whole forensic community for data contribution including China.
了解用于法医分析的短串联重复序列（STR）或微卫星位点的突变率和突变过程，对于正确解读所得的基因图谱至关重要。我们分析了来自6532例亲子鉴定案例的总共19754个样本，这些样本涉及17个常用于法医鉴定的STR位点。这些案例中的亲子关系都经过了高度验证（概率>99.99%）。我们共识别出178个突变。位点特异性突变率估计值在7.0×10⁻⁵至2.2×10⁻³之间，总体平均突变率估计值为8.4×10⁻⁴。观察到的STR突变特征对法医应用具有重要影响，例如亲子鉴定中排除标准的定义以及身份鉴定分析中DNA图谱的解读。为了丰富对法医应用有价值的STR突变参考数据，我们建议建立这样的数据库，并呼吁包括中国在内的整个法医界提供数据。
