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使用单核苷酸多态性(SNP)位点确定亲属关系的截断阈值的设定。

Set up of cutoff thresholds for kinship determination using SNP loci.

作者信息

Cho Sohee, Shin Eun Soon, Yu Hyung Jin, Lee Ji Hyun, Seo Hee Jin, Kim Moon Young, Lee Soong Deok

机构信息

Institute of Forensic Science, Seoul National University, College of Medicine, Seoul, South Korea.

DNA Link, Seoul, South Korea.

出版信息

Forensic Sci Int Genet. 2017 Jul;29:1-8. doi: 10.1016/j.fsigen.2017.03.009. Epub 2017 Mar 8.

Abstract

The usefulness of single nucleotide polymorphism (SNP) loci for kinship testing has been demonstrated in many case works, and suggested as a promising marker for relationship identification. For interpreting results based on the calculation of the likelihood ratio (LR) in kinship testing, it is important to prepare cutoffs for respective relatives which are dependent on genetic relatedness. For this, analysis using true pedigree data is significant and reliable as it reflects the actual frequencies of markers in the population. In this study, the kinship index was explored through 1209 parent-child pairs, 1373 full sibling pairs, and 247 uncle-nephew pairs using 136 SNP loci. The cutoffs for LR were set up using different numbers of SNP loci with accuracy, sensitivity, and specificity. It is expected that this study can support the application of SNP loci-based kinship testing for various relationships.

摘要

单核苷酸多态性(SNP)位点在亲缘关系鉴定中的实用性已在许多案例中得到证实,并被认为是一种很有前景的关系识别标记。在亲缘关系鉴定中,基于似然比(LR)计算来解释结果时,为各亲属准备依赖于遗传相关性的截断值很重要。为此,使用真实系谱数据进行分析意义重大且可靠,因为它反映了群体中标记的实际频率。在本研究中,利用136个SNP位点,对1209对亲子对、1373对全同胞对和247对叔侄对进行了亲缘指数探索。使用不同数量的SNP位点,根据准确性、敏感性和特异性设置了LR的截断值。预计本研究可为基于SNP位点的各种亲缘关系鉴定的应用提供支持。

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