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[新一代遗传标记InDel的研究进展]

[Progress in InDel as a new generation of genetic marker].

作者信息

Sun Kuan, Zhang Su-Hua, Zhu Ru-Xin, Zhao Shu-Min, Li Cheng-Tao

机构信息

Department of Forensic Medicine, Shanghai Medical College, Fudan University, Shanghai 200032, China.

出版信息

Fa Yi Xue Za Zhi. 2013 Apr;29(2):134-9, 143.

PMID:23930511
Abstract

As forensic DNA typing experienced three generations of genetic marker researching stage, short tandem repeat (STR) has been widely used in forensic identification as a mature tool. Further exploration of the human genome led to the discovery of polymorphism markers of single nucleotide polymorphism (SNP) and Insertion/Deletion (InDel). InDel, which combines the desirable characteristics of previous genetic markers as a new type of genetic marker, has got extensive concern in fields like medical molecular biology and forensic biology. This paper generally reviews the history of research and the corresponding results of InDel along the line of time axis as well as the different aims of these research focusing on the progress in the multiple amplification system with several InDel as the genetic marker (autosomal or X chromosome) in forensic biology and anthropology. Finally, the direction of research in this field and the problems to be solved have been put forward.

摘要

随着法医DNA分型经历了三代遗传标记研究阶段,短串联重复序列(STR)作为一种成熟的工具已被广泛应用于法医鉴定。对人类基因组的进一步探索导致了单核苷酸多态性(SNP)和插入/缺失(InDel)多态性标记的发现。InDel作为一种新型遗传标记,兼具了以往遗传标记的理想特性,在医学分子生物学和法医生物学等领域受到了广泛关注。本文沿着时间轴对InDel的研究历史和相应成果进行了综述,同时聚焦于以多个InDel为遗传标记(常染色体或X染色体)的多重扩增系统在法医生物学和人类学中的进展,阐述了这些研究的不同目的。最后,提出了该领域的研究方向和有待解决的问题。

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1
[Progress in InDel as a new generation of genetic marker].[新一代遗传标记InDel的研究进展]
Fa Yi Xue Za Zhi. 2013 Apr;29(2):134-9, 143.
2
Research Progress on InDel Genetic Marker in Forensic Science.法医科学中InDel遗传标记的研究进展
Fa Yi Xue Za Zhi. 2018 Aug;34(4):420-427. doi: 10.12116/j.issn.1004-5619.2018.04.016. Epub 2018 Aug 25.
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Forensic typing of short tandem repeat markers on the X and Y chromosomes.X和Y染色体上短串联重复序列标记的法医分型
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Forensic performance of two insertion-deletion marker assays.两种插入缺失标记检测法的法医学性能评估。
Int J Legal Med. 2012 Sep;126(5):725-37. doi: 10.1007/s00414-012-0721-7. Epub 2012 Jun 20.
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Typing short amplicon binary polymorphisms: supplementary SNP and Indel genetic information in the analysis of highly degraded skeletal remains.短扩增子二态性分型:高度降解骨骼遗骸分析中的补充 SNP 和 Indel 遗传信息。
Forensic Sci Int Genet. 2012 Jul;6(4):469-76. doi: 10.1016/j.fsigen.2011.10.006. Epub 2011 Nov 25.
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Evaluation of the Genplex SNP typing system and a 49plex forensic marker panel.Genplex单核苷酸多态性分型系统及49重法医标记物组合的评估。
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Analysis of 30 Biallelic INDEL Markers Using the Investigator DIPplex(®) Kit.使用Investigator DIPplex(®)试剂盒对30个双等位基因插入缺失标记进行分析。
Methods Mol Biol. 2016;1420:135-42. doi: 10.1007/978-1-4939-3597-0_11.
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Development and validation of a forensic multiplex InDel assay: The AGCU InDel 60 kit.法医多重 InDel 检测试剂盒(AGCU InDel 60 试剂盒)的开发与验证。
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