Thomson J A, Pilotti V, Stevens P, Ayres K L, Debenham P G
Life Sciences Group, LGC, Middlesex, UK.
Forensic Sci Int. 1999 Mar 15;100(1-2):1-16. doi: 10.1016/s0379-0738(98)00199-6.
This study details validation of two separate multiplex STR systems for use in paternity investigations. These are the Second Generation Multiplex (SGM) developed by the UK Forensic Science Service and the PowerPlex 1 multiplex commercially available from Promega Inc. (Madison, WI, USA). These multiplexes contain 12 different STR systems (two are duplicated in the two systems). Population databases from Caucasian, Asian and Afro-Caribbean populations have been compiled for all loci. In all but two of the 36 STR/ethnic group combinations, no evidence was obtained to indicate inconsistency with Hardy-Weinberg (HW) proportions. Empirical and theoretical approaches have been taken to validate these systems for paternity testing. Samples from 121 cases of disputed paternity were analysed using established Single Locus Probe (SLP) tests currently in use, and also using the two multiplex STR systems. Results of all three test systems were compared and no non-conformities in the conclusions were observed, although four examples of apparent germ line mutations in the STR systems were identified. The data was analysed to give information on expected paternity indices and exclusion rates for these STR systems. The 12 systems combined comprise a highly discriminating test suitable for paternity testing. 99.96% of non-fathers are excluded from paternity on two or more STR systems. Where no exclusion is found, Paternity Index (PI) values of > 10,000 are expected in > 96% of cases.
本研究详细介绍了用于亲子鉴定的两种独立多重短串联重复序列（STR）系统的验证情况。这两种系统分别是英国法医科学服务局开发的第二代多重系统（SGM）以及从美国威斯康星州麦迪逊市普洛麦格公司（Promega Inc.）商业获取的PowerPlex 1多重系统。这些多重系统包含12种不同的STR系统（其中两种在这两个系统中重复）。已针对所有基因座编制了白种人、亚洲人和非裔加勒比人群的群体数据库。在36种STR/种族组合中，除了两种组合外，没有获得证据表明与哈迪-温伯格（HW）比例不一致。已采用实证和理论方法来验证这些系统用于亲子鉴定的有效性。使用目前正在使用的既定单基因座探针（SLP）测试以及这两种多重STR系统，对121例有争议的亲子鉴定样本进行了分析。比较了所有三种测试系统的结果，尽管在STR系统中鉴定出了四个明显的生殖系突变实例，但在结论上未观察到不一致情况。对数据进行了分析，以提供有关这些STR系统预期父权指数和排除率的信息。这12个系统组合起来构成了一种适用于亲子鉴定的高度鉴别性测试。在两个或更多STR系统上，99.96%的非父亲被排除父权。在未发现排除情况的地方，预计在超过96%的案例中父权指数（PI）值大于10,000。
