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法医亲缘关系调查中使用单核苷酸多态性(SNPs)的利弊:与短串联重复序列(STRs)的比较分析

Pros and cons in the use of SNPs in forensic kinship investigation: a comparative analysis with STRs.

作者信息

Amorim António, Pereira Luísa

机构信息

IPATIMUP-Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Rua Dr. Roberto Frias s/n, 4200-465 Porto, Portugal.

出版信息

Forensic Sci Int. 2005 May 28;150(1):17-21. doi: 10.1016/j.forsciint.2004.06.018.

Abstract

Recent advances in single nucleotide polymorphisms (SNPs) research have raised the possibility that these markers could replace the forensically established short tandem repeats (STRs). In this work, we compare STRs and SNPs applicability for kinship investigation in terms of expected informative content and probability of occurrence of "difficult cases" (when isolated Mendelian incompatibilities between alleged father and child are found). Since SNPs have a much lower mutation rate than STRs, these difficulties were expected to occur less frequently if SNPs were used instead of STRs. The purpose of this paper is to make some simulations allowing the estimation of how often such difficult cases are expected to occur using both types of markers and how serious can be their impact in routine work. Our results demonstrate that a battery based exclusively on SNPs matching the informative power of current STR kits would be prone, if applied to routine paternity investigation, to the occurrence of cases where the statistical evidence would be inconclusive. We infer that the introduction of a SNP based strategy, as a substitute to the now classical STR approach poses statistical problems that must be carefully evaluated.

摘要

单核苷酸多态性(SNP)研究的最新进展引发了一种可能性,即这些标记物可能会取代法医鉴定中常用的短串联重复序列(STR)。在这项研究中,我们从预期的信息含量和“疑难案例”(即发现被指控的父亲与孩子之间存在孤立的孟德尔不相容性)出现的概率方面,比较了STR和SNP在亲缘关系调查中的适用性。由于SNP的突变率比STR低得多,如果使用SNP而非STR,预计此类疑难案例出现的频率会更低。本文的目的是进行一些模拟,以估计使用这两种标记物时此类疑难案例预计多久出现一次,以及它们在日常工作中的影响会有多严重。我们的结果表明,如果仅基于与当前STR试剂盒信息能力相当的SNP构建一个检测组合,并应用于常规亲子鉴定调查,那么可能会出现统计证据无法得出结论的情况。我们推断,引入基于SNP的策略来替代目前经典的STR方法会带来一些统计问题,必须仔细评估。

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