Dakin E E, Avise J C
Department of Genetics, University of Georgia, Athens, GA 30602, USA.
Heredity (Edinb). 2004 Nov;93(5):504-9. doi: 10.1038/sj.hdy.6800545.
Highly polymorphic microsatellite markers are widely employed in population genetic analyses (eg, of biological parentage and mating systems), but one potential drawback is the presence of null alleles that fail to amplify to detected levels in the PCR assays. Here we examine 233 published articles in which authors reported the suspected presence of one or more microsatellite null alleles, and we review how these purported nulls were detected and handled in the data analyses. We also employ computer simulations and analytical treatments to determine how microsatellite null alleles might impact molecular parentage analyses. The results indicate that whereas null alleles in frequencies typically reported in the literature introduce rather inconsequential biases on average exclusion probabilities, they can introduce substantial errors into empirical assessments of specific mating events by leading to high frequencies of false parentage exclusions.
高度多态的微卫星标记广泛应用于群体遗传分析(例如生物亲子关系和交配系统的分析),但一个潜在的缺点是存在无效等位基因,这些等位基因在聚合酶链反应(PCR)检测中无法扩增到可检测水平。在这里,我们研究了233篇已发表的文章,作者在这些文章中报告了疑似存在一个或多个微卫星无效等位基因的情况,并且我们回顾了在数据分析中这些所谓的无效等位基因是如何被检测和处理的。我们还采用计算机模拟和分析处理方法来确定微卫星无效等位基因如何影响分子亲子关系分析。结果表明,虽然文献中通常报道的频率下的无效等位基因对平均排除概率产生的偏差通常无关紧要,但它们可能会通过导致高频率的错误亲子关系排除,在特定交配事件的实证评估中引入重大误差。