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开发用于个体法医鉴定的单核苷酸多态性(SNP)检测板。

Developing a SNP panel for forensic identification of individuals.

作者信息

Kidd Kenneth K, Pakstis Andrew J, Speed William C, Grigorenko Elena L, Kajuna Sylvester L B, Karoma Nganyirwa J, Kungulilo Selemani, Kim Jong-Jin, Lu Ru-Band, Odunsi Adekunle, Okonofua Friday, Parnas Josef, Schulz Leslie O, Zhukova Olga V, Kidd Judith R

机构信息

Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA.

出版信息

Forensic Sci Int. 2006 Dec 1;164(1):20-32. doi: 10.1016/j.forsciint.2005.11.017. Epub 2005 Dec 19.

Abstract

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 ( approximately 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 approximately 50 comparable SNPs should give match probabilities of about 10(-15) with a small global range.

摘要

单核苷酸多态性(SNPs)在不久的将来可能在法医鉴定的人类识别和描述方面发挥重要作用。然而,要为这些应用建立充分的科学基础,还需要进行大量的研究。在识别方面,由于等位基因频率在不同人群中可能有很大差异,匹配概率的群体遗传学是一个关键问题。然而,一些SNPs在不同人群中等位基因频率变化很小,但仍然具有很高的信息量。我们在此描述了一种识别和表征此类SNPs的有效策略,并在广泛的世界人群样本上对该策略进行了测试。选择在非裔美国人、欧裔美国人和东亚人群中具有高杂合性且频率变化小的标记,在另外七个能代表世界主要地理区域遗传变异的人群中进行进一步筛选。然后在总共40个人群(约2100人)中对在这七个人群中等位基因频率变化小的标记进行筛选,并保留最有前景的标记。从最初选择的195个SNPs中选出的19个SNPs初步组合,在研究的40个人群中的大多数人群中平均匹配概率<10^(-7),在最隔离、近亲繁殖的人群中不超过10^(-6)。将这个组合扩展到大约50个类似的SNPs,应该能在全球范围内给出约10^(-15)的匹配概率。

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