Santos V R D, Pena H B, Pena S D J
GENE - Núcleo de Genética Médica, Belo Horizonte, MG, Brasil.
GENE - Núcleo de Genética Médica, Belo Horizonte, MG, Brasil
Genet Mol Res. 2015 Apr 10;14(2):2947-52. doi: 10.4238/2015.April.10.2.
We have previously developed a panel of 40 insertion-deletion (INDEL) human DNA polymorphisms that was proven to ad-equately cover the span of global human genetic diversity. The panel was found to have very low matching probabilities with respect to both the global and Brazilian populations. To optimize the panel for application with degraded DNA samples, which are commonly encountered in fo-rensic analysis, we have significantly reduced the amplicon size of the INDELs and developed a new multiplex panel. The panel has an ampli-con size ranging from 50 to 153 base pairs, with a mean of 93 base pairs. It could be amplified by polymerase chain reaction in two multiplex re-actions, which were then combined for electrophoretic separation and identification of the individual products in the ABI3130 four-color DNA analyzer. The results of the new panel were fully validated.
我们之前开发了一组包含40个插入缺失(INDEL)的人类DNA多态性,经证实其能充分覆盖全球人类遗传多样性范围。结果发现,该组多态性在全球人群和巴西人群中的匹配概率都非常低。为了优化该组多态性以便用于法医分析中常见的降解DNA样本,我们显著减小了INDEL的扩增子大小,并开发了一个新的多重检测组。该检测组的扩增子大小范围为50至153个碱基对,平均为93个碱基对。它可以通过聚合酶链反应在两个多重反应中进行扩增,然后合并用于在ABI3130四色DNA分析仪中进行电泳分离和个体产物鉴定。新检测组的结果得到了充分验证。