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计算三联体 STR 在亲权鉴定中的父权指数。

Calculation of the Paternity Index for STR with tri-allelic patterns in paternity testing.

机构信息

Department of Forensic Medicine, School of Basic Medical Sciences, Fudan University, Shanghai 200032, China.

Department of Forensic Medicine, School of Basic Medical Sciences, Fudan University, Shanghai 200032, China; Shanghai Key Laboratory of Crime Scene Evidence, Institute of Criminal Science and Technology, Shanghai Municipal Public Security Bureau, Shanghai 200083, China.

出版信息

Forensic Sci Int. 2021 Jul;324:110832. doi: 10.1016/j.forsciint.2021.110832. Epub 2021 May 15.

Abstract

The calculation of the paternity index (PI) value of common bi-allelic genotypes at STR loci has been standardized in paternity cases. However, for tri-allelic patterns, a rare category of genotyping aberration in forensic practice, the statistical analysis in paternity testing remains disputed. The Type 1 tri-allelic pattern generally results from somatic mutation in the early stage of individual development. The Type 2 tri-allelic pattern is commonly generated by segmental duplication in the genome. In this study, practical and theoretical aspects of the evaluation of evidence concerning the Type 1 and Type 2 tri-allelic patterns in healthy individuals are discussed based on the likelihood ratio (LR) in different categories of kinship cases. The calculation of the PI value concerning tri-allelic genotypes is formulated according to the generation and genetic transmission of tri-allelic patterns. Meanwhile, a package tool named TriPI is developed to assist the calculation of the PI value in paternity testing concerning tri-allelic subjects, which could benefit the evaluation of the weight of evidence in the interpretation of tri-allelic pattern in forensic practice.

摘要

在亲子鉴定案例中,已经对常见双等位基因 STR 基因座的亲权指数(PI)值的计算进行了标准化。然而,对于三等位基因模式这种法医学实践中罕见的基因分型异常情况,其在亲子鉴定中的统计分析仍存在争议。1 型三等位基因模式通常是个体发育早期的体细胞突变引起的。2 型三等位基因模式通常是由基因组中的片段重复产生的。在这项研究中,基于不同亲属关系案例中的似然比(LR),讨论了健康个体中 1 型和 2 型三等位基因模式的证据评估的实际和理论方面。根据三等位基因模式的产生和遗传传递,制定了三等位基因基因型 PI 值的计算方法。同时,开发了一个名为 TriPI 的工具包,用于辅助三等位基因个体亲子鉴定中 PI 值的计算,这有助于在法医学实践中解释三等位基因模式时评估证据的权重。

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