DIP-STR: highly sensitive markers for the analysis of unbalanced genomic mixtures.
DIP-STR: highly sensitive markers for the analysis of unbalanced genomic mixtures.
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DOI：
10.1002/humu.22280
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发表时间：
2013-04
期刊：
影响因子：
3.9
通讯作者：
Hall, Diana
中科院分区：
文献类型：
--
作者：
Castella, Vincent;Gervaix, Joelle;Hall, Diana
含有来自两个个体的高度不平衡的DNA混合物的样品通常发生在法医混合染色和由妊娠或器官移植诱导的外周血DNA微嵌合体中。由于PCR扩增偏倚，对混合样品中微量DNA的遗传鉴定是一个巨大的挑战。这意味着标准遗传标记，即微卫星，也称为短串联重复序列（STR）和单核苷酸多态性（SNP）在解决法医和医学遗传学的常见问题方面的能力有限。为了解决这个问题，我们开发了一种分子标记，命名为DIP-STR，它依赖于配对的缺失-插入多态性（DIP）与STR。这种新的分析方法允许明确的基因分型的一个次要组成部分的存在下，一个主要组成部分，其中DIP-STR基因型的次要成功采购的比例高达1：1000。该标志物的复合性质产生了高水平的多态性，适用于同一性检测。在这里，我们在瑞士人群中调查的最初一组九个标志物上展示了DIP-STR方法的功效。最后，我们讨论了我们的新系统的局限性和潜在的应用，包括对临床样本的初步测试和对模拟DNA混合物的性能估计。
Samples containing highly unbalanced DNA mixtures from two individuals commonly occur both in forensic mixed stains and in peripheral blood DNA microchimerism induced by pregnancy or following organ transplant. Because of PCR amplification bias, the genetic identification of a DNA that contributes trace amounts to a mixed sample represents a tremendous challenge. This means that standard genetic markers, namely microsatellites, also referred as short tandem repeats (STR), and single-nucleotide polymorphism (SNP) have limited power in addressing common questions of forensic and medical genetics. To address this issue, we developed a molecular marker, named DIP–STR that relies on pairing deletion–insertion polymorphisms (DIP) with STR. This novel analytical approach allows for the unambiguous genotyping of a minor component in the presence of a major component, where DIP–STR genotypes of the minor were successfully procured at ratios up to 1:1,000. The compound nature of this marker generates a high level of polymorphism that is suitable for identity testing. Here, we demonstrate the power of the DIP–STR approach on an initial set of nine markers surveyed in a Swiss population. Finally, we discuss the limitations and potential applications of our new system including preliminary tests on clinical samples and estimates of their performance on simulated DNA mixtures.
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影响因子：
3.1
作者：
Ballantyne, Kaye N.;Keerl, Victoria;Kayser, Manfred
通讯作者：
Kayser, Manfred
DOI：
10.1186/2041-2223-2-23
发表时间：
2011-11-24
期刊：
Investigative genetics
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