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一组用于法医应用的 20 个新的多重插入缺失标记。

A new set of 20 Multi-InDel markers for forensic application.

机构信息

School of Forensic Medicine, Shanxi Medical University, Jinzhong, Shanxi, P. R. China.

Institute of Criminal Science and Technology of Hangzhou Public Security Bureau, Hangzhou, P. R. China.

出版信息

Electrophoresis. 2022 Jun;43(11):1193-1202. doi: 10.1002/elps.202100361. Epub 2022 Apr 18.

Abstract

Insertion/deletion markers (InDels) become an important marker for forensic medicine because of their compatible typing techniques with STRs and lower mutation rates. Recent years, a new kind of DNA marker named Multi-InDel was reported as characterized by two or more tightly linked InDel loci within a short length of physical position, usually 200-300 nucleotides. Many pieces of research showed that Multi-InDels had excellent application values in ancestry inference and forensic medicine. Since the identical number of insertion/deletion nucleotides of the InDel markers that composing the Multi-InDel marker, the genotypes of most reported Multi-InDels could not be directly typed by capillary electrophoresis (CE) due to the lack of length discrepancy among the composing InDel sequence. In this study, we applied a typing system of 20 Multi-InDels including 41 InDels, whose genotypes could be deduced by CE and assessed their potential applications in forensic medicine. A total of 200 unrelated Chinese Han individuals and five mother-child-father trios with proven paternity with one STR locus transmission incompatibilities from Shanxi province were genotyped by the multiplex system. The results showed that a total of 70 specific alleles were observed, more than three alleles were observed in 19 loci and seven alleles were observed in one locus. The combined probability of exclusion and the combined power of discrimination were 0.992 and 0.99999999993, respectively. This study demonstrates their potential usefulness for individual identification and paternity tests. The development of Multi-InDels provided another genetic tool inherent in higher polymorphic and lower mutation rates.

摘要

插入/缺失标记(InDels)由于其与 STR 兼容的分型技术和较低的突变率而成为法医学中的重要标记。近年来,一种新型的 DNA 标记物被称为多 InDel,其特点是在短的物理位置内(通常为 200-300 个核苷酸)存在两个或更多紧密连锁的 InDel 位点。许多研究表明,多 InDels 在祖籍推断和法医学中具有极好的应用价值。由于构成多 InDel 标记的 InDel 标记物具有相同数量的插入/缺失核苷酸,因此大多数报道的多 InDels 的基因型不能直接通过毛细管电泳(CE)进行分型,因为构成 InDel 序列之间缺乏长度差异。在这项研究中,我们应用了一种包含 41 个 InDels 的 20 个多 InDel 的分型系统,其基因型可以通过 CE 推断,并评估了它们在法医学中的潜在应用。我们对来自山西省的 200 名无关汉族个体和 5 个经证明具有父子关系的母子父子三代个体进行了基因分型,其中一个 STR 位点存在遗传不兼容。结果表明,共观察到 70 个特异性等位基因,19 个位点观察到 3 个以上等位基因,1 个位点观察到 7 个等位基因。联合排除概率和联合判别能力分别为 0.992 和 0.99999999993。本研究表明,它们在个体识别和亲子鉴定中具有潜在的应用价值。多 InDels 的开发为具有更高多态性和更低突变率的固有遗传工具提供了另一种选择。

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