‘True’ null allele detection in microsatellite loci: a comparison of methods, assessment of difficulties and survey of possible improvements

作者: M. J. Dąbrowski , S. Bornelöv , M. Kruczyk , N. Baltzer , J. Komorowski

DOI: 10.1111/1755-0998.12326

关键词: Null alleleAllelePopulationStatisticsPopulation dataPcr assayFalse discovery rateGeneticsMicrosatelliteBiologyRough set

摘要: Null alleles are that for various reasons fail to amplify in a PCR assay. The presence of null microsatellite data is known bias the genetic parameter estimates. Thus, efficient detection crucial, but methods available indirect allele return inconsistent results. Here, our aim was compare different detection, explain their respective performance and provide improvements. We applied several approaches identify ‘true’ based on predictions made by five methods, used either individually or combination. First, we introduced simulated into 240 population sets measure success detecting alleles. single best-performing method ML-NullFreq_frequency. Furthermore, noise reduction improve For instance, combining results obtained more reliable than using one. Rule-based classification properties linked false discovery rate. Rules from classifier described which estimates loci characteristics were each method. have shown simulating set, may define frequency threshold, related desired true Moreover, such sets, expected homozygote be estimated independently equilibrium state population.

参考文章(33)
Hui-Ling Cheng, Yan-Horn Lee, Dai-Shion Hsiung, Mei-Chen Tseng, Screening of new microsatellite DNA markers from the genome of Platyeriocheir formosa. International Journal of Molecular Sciences. ,vol. 13, pp. 5598- 5606 ,(2012) , 10.3390/IJMS13055598
Stefan Enroth, Susanne Bornelöv, Claes Wadelius, Jan Komorowski, Combinations of Histone Modifications Mark Exon Inclusion Levels PLoS ONE. ,vol. 7, pp. e29911- 6 ,(2012) , 10.1371/JOURNAL.PONE.0029911
J. M. PEMBERTON, J. SLATE, D. R. BANCROFT, J. A. BARRETT, Nonamplifying alleles at microsatellite loci: a caution for parentage and population studies. Molecular Ecology. ,vol. 4, pp. 249- 252 ,(1995) , 10.1111/J.1365-294X.1995.TB00214.X
Mei-Chen Tseng, Evolution of microsatellite Loci of tropical and temperate anguilla eels. International Journal of Molecular Sciences. ,vol. 13, pp. 4281- 4294 ,(2012) , 10.3390/IJMS13044281
M. J. Dąbrowski, M. Pilot, M. Kruczyk, M. Żmihorski, H. M. Umer, J. Gliwicz, Reliability assessment of null allele detection: inconsistencies between and within different methods. Molecular Ecology Resources. ,vol. 14, pp. 361- 373 ,(2014) , 10.1111/1755-0998.12177
Marcin Kruczyk, Henrik Zetterberg, Oskar Hansson, Sindre Rolstad, Lennart Minthon, Anders Wallin, Kaj Blennow, Jan Komorowski, Mats Gunnar Andersson, Monte Carlo feature selection and rule-based models to predict Alzheimer’s disease in mild cognitive impairment Journal of Neural Transmission. ,vol. 119, pp. 821- 831 ,(2012) , 10.1007/S00702-012-0812-0
R. CHAKRABORTY, M. DE ANDRADE, S. P. DAIGER, B. BUDOWLE, Apparent heterozygote deficiencies observed in DNA typing data and their implications in forensic applications. Annals of Human Genetics. ,vol. 56, pp. 45- 57 ,(1992) , 10.1111/J.1469-1809.1992.TB01128.X
Arnaud Estoup, Pablo Presa, Francine Krieg, Daniel Vaiman, Rene Guyomard, (CT)n and (GT)n microsatellites: a new class of genetic markers for Salmo trutta L. (brown trout) Heredity. ,vol. 71, pp. 488- 496 ,(1993) , 10.1038/HDY.1993.167