国际法医遗传学协会英语工作组2002 - 2008年亲子鉴定研讨会报告

A report of the 2002-2008 paternity testing workshops of the English speaking working group of the International Society for Forensic Genetics.

作者信息

Thomsen Anni Rønfeldt, Hallenberg Charlotte, Simonsen Bo Thisted, Langkjaer Rikke Breinhold, Morling Niels

机构信息

Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health Sciences, University of Copenhagen, 11 Frederik V's Vej, DK-2100 Copenhagen, Denmark.

出版信息

Forensic Sci Int Genet. 2009 Sep;3(4):214-21. doi: 10.1016/j.fsigen.2009.01.016. Epub 2009 Mar 4.

DOI:10.1016/j.fsigen.2009.01.016

PMID:19647705

Abstract

The English Speaking Working Group (ESWG) of the International Society for Forensic Genetics (ISFG) offers an annual Paternity Testing Workshop open to all members of the group. Blood samples, a questionnaire and a paper challenge are sent to the participants. Here, we present the results of the 2002-2008 Paternity Testing Workshops with the objective to evaluate the uniformity of DNA-profiling and conclusions of the participating laboratories as well as to clarify tendencies in typing strategies and biostatistical evaluations of the laboratories. The numbers of participating laboratories increased from 46 in 2002 to 68 in 2008. The results showed an increasing degree of concordance concerning methods and DNA systems used and a high degree of uniformity in typing results with discrepancies in 0.1 and 0.3 % of all submitted PCR-based results. The paper challenges showed uniformity in the calculation of the weight of evidence for simple cases with straight-forward genetic constellations. However, a high degree of variation existed in complex scenarios with rare genetic constellations such as genetic inconsistencies/possible silent alleles, rare alleles and haplotypes.

摘要

国际法医遗传学协会（ISFG）的英语工作小组（ESWG）每年都会举办一次亲子鉴定研讨会，面向该小组的所有成员开放。血液样本、一份调查问卷和一份书面挑战会发送给参与者。在此，我们展示2002 - 2008年亲子鉴定研讨会的结果，目的是评估参与实验室DNA分型和结论的一致性，以及阐明实验室在分型策略和生物统计学评估方面的趋势。参与实验室的数量从2002年的46个增加到了2008年的68个。结果显示，在所用方法和DNA系统方面的一致性程度不断提高，分型结果的一致性程度很高，在所有基于PCR的提交结果中，差异分别为0.1%和0.3%。书面挑战表明，对于具有直接遗传格局的简单案例，在证据权重的计算上具有一致性。然而，在存在罕见遗传格局的复杂情况下，如遗传不一致/可能的沉默等位基因、罕见等位基因和单倍型，存在高度的变异性。