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法医遗传学中的单核苷酸多态性:单核苷酸多态性分型方法综述

SNPs in forensic genetics: a review on SNP typing methodologies.

作者信息

Sobrino Beatriz, Brión María, Carracedo Angel

机构信息

Institute of Legal Medicine, University of Santiago de Compostela, San Francisco s/n, Spain.

出版信息

Forensic Sci Int. 2005 Nov 25;154(2-3):181-94. doi: 10.1016/j.forsciint.2004.10.020. Epub 2005 Jan 11.

Abstract

There is an increasing interest in single nucleotide polymorphism (SNP) typing in the forensic field, not only for the usefulness of SNPs for defining Y chromosome or mtDNA haplogroups or for analyzing the geographical origin of samples, but also for the potential applications of autosomal SNPs. The interest of forensic researchers in autosomal SNPs has been attracted due to the potential advantages in paternity testing because of the low mutation rates and specially in the analysis of degraded samples by use of short amplicons. New SNP genotyping methods, chemistries and platforms are continuously being developed and it is often difficult to be keeping up to date and to decide on the best technology options available. This review offers to the reader a state of the art of SNP genotyping technologies with the advantages and disadvantages of the different chemistries and platforms for different forensic requirements.

摘要

在法医学领域,人们对单核苷酸多态性(SNP)分型的兴趣日益浓厚,这不仅是因为SNP在定义Y染色体或线粒体DNA单倍群或分析样本地理来源方面有用,还因为常染色体SNP的潜在应用。法医研究人员对常染色体SNP产生兴趣,是由于其在亲子鉴定中因低突变率而具有潜在优势,特别是在使用短扩增子分析降解样本方面。新的SNP基因分型方法、化学技术和平台不断涌现,人们常常难以跟上最新进展并决定最佳可用技术选项。本综述向读者介绍了SNP基因分型技术的现状,以及不同化学技术和平台针对不同法医需求的优缺点。

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