Girard Philippe, Angers Bernard
GRIL, Département des Sciences Biologiques, Université de Montréal, Succ. Centre-Ville, C.P. 6128, Montreal, QC, Canada.
Genetica. 2008 Oct;134(2):187-97. doi: 10.1007/s10709-007-9224-8. Epub 2007 Dec 1.
Null alleles represent a common artefact of microsatellite-based analyses. Rapid methods for their detection and frequency estimation have been proposed to replace the existing time-consuming laboratory methods. The objective of this paper is to assess the power and accuracy of these statistical tools using both simulated and real datasets. Our results revealed that none of the tests developed to detect null alleles are perfect. However, combining tests allows the detection of null alleles with high confidence. Comparison of the estimators of null allele frequency indicated that those that account for unamplified individuals, such as the Brookfield2 estimator, are more accurate than those that do not. Altogether, the use of statistical tools appeared more appropriate than testing with alternative primers as null alleles often remain undetected following this laborious work. Based on these results, we propose recommendations to detect and correct datasets with null alleles.
无效等位基因是基于微卫星分析的常见假象。人们已提出快速检测和频率估计方法,以取代现有的耗时实验室方法。本文的目的是使用模拟数据集和真实数据集评估这些统计工具的效能和准确性。我们的结果表明,为检测无效等位基因而开发的测试都不完美。然而,组合测试能够高置信度地检测出无效等位基因。无效等位基因频率估计值的比较表明,那些考虑未扩增个体的估计值,如布鲁克菲尔德2估计值,比不考虑的更准确。总体而言,使用统计工具似乎比用替代引物进行测试更合适,因为经过这项费力的工作后,无效等位基因往往仍未被检测到。基于这些结果,我们提出了检测和校正含有无效等位基因数据集的建议。