Multi-Indel: A Microhaplotype Marker Can Be Typed Using Capillary Electrophoresis Platforms.
Multi-Indel: A Microhaplotype Marker Can Be Typed Using Capillary Electrophoresis Platforms.
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DOI：
10.3389/fgene.2020.567082
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发表时间：
2020
影响因子：
3.7
通讯作者：
Zhang L
中科院分区：
文献类型：
--
作者：
Qu S;Lv M;Xue J;Zhu J;Wang L;Jian H;Liu Y;Zhang R;Zha L;Liang W;Zhang L
自从2013年KIDD提出微单倍型的概念以来，各种微单倍型标记被用于不同的法医学目的，如个体识别、DNA混合物的去卷积或法医血统推断。在我们看来，各种复合标记也被认为是广义的微单倍型，包括一小段DNA(例如，200bp)中的两个或两个以上变异。也就是说，在一定长度内的一组变体(本文中称为多变体)包括单核苷酸多态(SNP)、插入/缺失多态(INDELs)或短串联重复多态(STR)。目前，多变型主要针对多个SNPs。然而，多变种的单倍型基因分型依赖于单链分析，主要使用大规模平行测序(MPS)。在这里，我们描述了一种基于毛细管电泳法(CE)平台的方法，可以直接获得个体的单倍型。筛选出含有3个或3个以上插入或缺失长度在小于200bp范围内的微单倍型，每个微单倍型至少有3个单倍型。因此，个体的单倍型是通过其多态的长度来反映的。最后，我们建立了一个包含18个多Indel标记的多重扩增体系，可以识别个体每条染色体上的单倍型。综合识别力和累计排除概率分别为0.999999999997234和0.9984。
Since the concept of microhaplotypes was proposed by Kidd in 2013, various microhaplotype markers have been investigated for various forensic purposes, such as individual identification, deconvolution of DNA mixtures, or forensic ancestry inference. In our opinion, various compound markers are also regarded as generalized microhaplotypes, encompassing two or more variants in a short segment of DNA (e.g., 200 bp). That is, a set of variants (referred to herein as multi-variants) within a certain length includes single nucleotide polymorphisms (SNP), insertion/deletion polymorphisms (Indels), or short tandem repeat polymorphisms (STRs). At present, multi-variant is mainly aimed at multi-SNPs. However, the haplotype genotyping of multi-variants relies on single-strand analysis, mainly using massively parallel sequencing (MPS). Here, we describe a method based on a capillary electrophoresis (CE) platform that can directly obtain haplotypes of individuals. Several microhaplotypes consisting of three or more Indels with different insertion or deletion lengths in the range of less than 200 bp were screened out, each of which had at least three haplotypes. As a result, the haplotype of an individual was reflected by the length of its polymorphism. Finally, we established a multiplex amplification system containing 18 multi-Indel markers that could identify haplotypes on each chromosome of an individual. The combined power of discrimination (CPD) and the cumulative probability of exclusion (CPE) were 0.999999999997234 and 0.9984, respectively.
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影响因子：
3.1
作者：
de la Puente, M.;Phillips, C.;Lareu, M., V
通讯作者：
Lareu, M., V
DOI：
10.1186/s13323-014-0018-3
发表时间：
2015
期刊：
Investigative genetics
影响因子：
--
作者：
Kidd KK;Speed WC
通讯作者：
Speed WC
一组新的 DIP™SNP 标记，用于检测不平衡和降解的 DNA 混合物
影响因子：
2.9
作者：
Liu, Jinding;Li, Wenyan;Yun, Keming
通讯作者：
Yun, Keming
影响因子：
3.9
作者：
Castella, Vincent;Gervaix, Joelle;Hall, Diana
通讯作者：
Hall, Diana
影响因子：
30.8
作者：
Kong A;Masson G;Frigge ML;Gylfason A;Zusmanovich P;Thorleifsson G;Olason PI;Ingason A;Steinberg S;Rafnar T;Sulem P;Mouy M;Jonsson F;Thorsteinsdottir U;Gudbjartsson DF;Stefansson H;Stefansson K
通讯作者：
Stefansson K