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插入缺失多态性——在法医分析中的应用。

Insertion-deletion polymorphisms--utilization on forensic analysis.

机构信息

Laboratório de Genética Forense, Departamento de Laboratórios Forenses, Polícia Técnico-Científica do Amapá, Macapá, Amapá, Brazil.

出版信息

Int J Legal Med. 2012 Jul;126(4):491-6. doi: 10.1007/s00414-011-0588-z. Epub 2011 Jun 7.

Abstract

Insertion-deletion (INDEL) markers are very frequent in the human genome and present several advantages for population and forensic studies, such as low mutation rates, easy interpretation, small amplicons, easy genotyping, and the possibility of using multiplex PCR. The great adaptability of INDELs for amplification of low copy number or degraded DNA allows its using as an interesting platform of genetic identity by DNA in forensic cases. In the present study, we tested the ability of 48 diallelic INDEL markers on genotyping forensic samples collected from different biological samples related to criminal cases. Moreover, we evaluated the lowest DNA concentration with which there was amplification of all markers from each one of three indel-plex panels. When comparing the performances obtained by the indel-plex panels described in this study with results obtained using Identifiler® kit (Applied Biosystems) related to forensic samples, as well as to control samples with different concentrations of DNA, we observed superior efficiency on samples with low copy number or in the presence of inhibitors.

摘要

插入缺失(INDEL)标记在人类基因组中非常普遍,在人群和法医研究中有几个优势,如低突变率、易于解释、小扩增子、易于基因分型,以及使用多重 PCR 的可能性。INDEL 非常适合扩增低拷贝数或降解 DNA,因此可作为法医案件中 DNA 遗传身份鉴定的一个有趣平台。在本研究中,我们测试了 48 个二态 INDEL 标记在对不同生物样本相关的法医样本进行基因分型的能力。此外,我们评估了每个三标记 INDEL 复合扩增组中所有标记都能扩增的最低 DNA 浓度。当将本研究中描述的 INDEL 复合扩增组的性能与使用 Identifiler®试剂盒(Applied Biosystems)获得的法医样本的结果进行比较,以及与具有不同浓度 DNA 的对照样本进行比较时,我们观察到在低拷贝数或存在抑制剂的样本中具有更高的效率。

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