Developing a SNP panel for forensic identification of individuals
Developing a SNP panel for forensic identification of individuals
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DOI：
10.1016/j.forsciint.2005.11.017
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发表时间：
2006-12-01
影响因子：
2.2
通讯作者：
Kidd, Judith R.
中科院分区：
文献类型：
--
作者：
Kidd, Kenneth K.;Pakstis, Andrew J.;Kidd, Judith R.
单核苷酸多态性（SNPs）很可能在不久的将来在人类识别和描述的法医学中发挥重要作用。然而，需要进行大量的研究，为这些应用建立充分的科学基础。在身份识别的情况下，由于等位基因频率在种群之间差异很大，匹配概率的种群遗传学是一个关键问题。然而，一些SNPs在保持高度信息性的同时，在人群中显示出很小的等位基因频率变化。我们在这里描述了一个有效的策略，用于识别和表征这样的SNP，并测试该策略的广泛代表性的世界人口。选择在非洲裔美国人、欧洲裔美国人和东亚人群中具有高杂合性和小频率变异的标记，用于对提供来自世界主要地理区域的遗传变异样本的7个人群进行额外筛选。然后在总共40个群体（类似于2100个个体）上筛选在7个群体上具有小等位基因频率变异的那些，并保留最有希望的。从195个SNP的初始选择中，19个SNP的初步小组在所研究的40个群体中的大多数中给出了< 10（-7）的平均匹配概率，并且在最孤立的近交群体中不大于10（-6）。将该组扩展到类似于50个可比较的SNP应给出约10（-15）的匹配概率，具有小的全局范围。(c)2005爱思唯尔爱尔兰有限公司保留所有权利。
Single nucleotide polymorphisms (SNPs) are likely in the near future to have a fundamental role in forensics in both human identification and description. However, considerable research is necessary to establish adequate scientific foundations for these applications. In the case of identification, because allele frequencies can vary greatly among populations, the population genetics of match probabilities is a critical issue. Some SNPs, however, show little allele frequency variation among populations while remaining highly informative. We describe here both an efficient strategy for identifying and characterizing such SNPs, and test that strategy on a broad representation of world populations. Markers with high heterozygosity and little frequency variation among African American, European American, and East Asian populations are selected for additional screening on seven populations that provide a sampling of genetic variation from the world's major geographical regions. Those with little allele frequency variation on the seven populations are then screened on a total of 40 populations (similar to 2100 individuals) and the most promising retained. The preliminary panel of 19 SNPs, from an initial selection of 195 SNPs, gives an average match probability of < 10(-7) in most of 40 populations studied and no greater than 10(-6) in the most isolated, inbred populations. Expansion of this panel to similar to 50 comparable SNPs should give match probabilities of about 10(-15) with a small global range. (c) 2005 Elsevier Ireland Ltd. All rights reserved.