Moura-Neto R S, Mello I C T, Silva R, Maette A P C, Bottino C G, Woerner A, King J, Wendt F, Budowle B
Laboratório de Biologia Molecular Forense, Instituto de Biologia, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
Instituto de Biofisica Carlos Chagas Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
Int J Legal Med. 2018 Jan;132(1):149-151. doi: 10.1007/s00414-017-1642-2. Epub 2017 Jul 26.
The use of bi-allelic markers such as retrotransposable element insertion polymorphisms or Innuls (for insertion/null) can overcome some limitations of short tandem repeat (STR) loci in typing forensic biological evidence. This study investigated the efficiency of the InnoTyper® 21 Innul markers in an urban admixed population sample in Rio de Janeiro (n = 40) and one highly compromised sample collected as evidence by the Rio de Janeiro police. No significant departures from Hardy-Weinberg equilibrium were detected after the Bonferroni correction (α' ≈ 0.05/20, p < 0.0025), and no significant linkage disequilibrium was observed between markers. Assuming loci independence, the cumulative random match probability (RMP) was 2.3 × 10. A lower mean Fis value was obtained for this sample population compared with those of three North American populations (African-American, Southwest Hispanic, US Caucasian). Principal component analysis with the three North American populations and one from 21 East Asian population showed that African Americans segregated as an independent group while US Caucasian, Southwest Hispanic, East Asian, and Rio de Janeiro populations are in a single large heterogeneous group. Also, a full Innuls profile was produced from an evidence sample, despite the DNA being highly degraded. In conclusion, this system is a useful complement to standard STR kits.
使用双等位基因标记,如反转录转座元件插入多态性或Innuls(插入/缺失),可以克服短串联重复序列(STR)基因座在法医物证分型中的一些局限性。本研究调查了InnoTyper® 21 Innul标记在里约热内卢城市混合人群样本(n = 40)和里约热内卢警方收集的一份高度降解的证据样本中的分型效率。经Bonferroni校正(α'≈0.05/20,p < 0.0025)后,未检测到显著偏离哈迪-温伯格平衡的情况,且标记之间未观察到显著的连锁不平衡。假设基因座独立,累积随机匹配概率(RMP)为2.3×10。与三个北美人群(非裔美国人、西南西班牙裔、美国白种人)相比,该样本群体的平均Fis值更低。对三个北美人群和一个东亚人群(共21个)进行主成分分析表明,非裔美国人作为一个独立群体分离出来,而美国白种人、西南西班牙裔、东亚人和里约热内卢人群处于一个单一的大的异质群体中。此外,尽管DNA高度降解,但仍从一份证据样本中获得了完整的Innuls图谱。总之,该系统是标准STR试剂盒的有用补充。