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