Institute of Applied Genetics, Department of Forensic and Investigative Genetics, University of North Texas Health Science Center, 3500 Camp Bowie Blvd., Fort Worth, TX 76107, USA.
Int J Legal Med. 2012 Jul;126(4):533-40. doi: 10.1007/s00414-012-0667-9. Epub 2012 Jan 15.
Marker sets that are based on small insertion/deletion (INDEL) alleles can serve as useful supplementary or stand-alone assays for human identification. A validation study has been performed on a human identification assay based on a panel of 30 INDELs and amelogenin using the Investigator DIPplex® kit (Qiagen). The assay was able to type DNA from a number of forensically relevant sample types and obtain full profiles with 62 pg of template DNA and partial profiles with as little as 16 pg of template DNA. The assay is reproducible, precise, and non-overlapping alleles from minor contributors were detectable in mixture analysis ranging from 6:1 to 19:1 mixtures. Population studies were performed on the 30 indels, and there were no significant departures from Hardy-Weinberg equilibrium or significant linkage disequilibrium between the markers (after correction for sampling). In all populations, the random match probability was 1.43 × 10(-11) or less, and the power of exclusion was greater than .999999999. We also discovered several microvariant alleles in our population samples. The data support that the Investigator DIPplex® kit provides a powerful supplement or stand-alone capability for human identity testing.
基于小插入/缺失(INDEL)等位基因的标记集可以作为人类识别的有用补充或独立检测方法。已经使用 Investigator DIPplex®试剂盒(Qiagen)对基于 30 个 INDEL 和 amelogenin 的人类识别检测方法进行了验证研究。该检测方法能够对多种法医学相关样本类型进行分型,并能够在模板 DNA 为 62 pg 时获得完整图谱,在模板 DNA 低至 16 pg 时获得部分图谱。该检测方法具有可重复性、精确性,并且在 6:1 至 19:1 的混合物分析中能够检测到来自次要供体的非重叠等位基因。对 30 个 INDEL 进行了群体研究,在经过(采样)校正后,标记之间没有出现明显的哈迪-温伯格不平衡或显著的连锁不平衡。在所有人群中,随机匹配概率均小于等于 1.43×10(-11),排除概率大于.999999999。我们还在人群样本中发现了几个微变异等位基因。这些数据表明 Investigator DIPplex®试剂盒为人类身份测试提供了强大的补充或独立检测能力。