Departament de Ciència Animal i dels Aliments, Universitat Autònoma de Barcelona, 08193 Bellaterra, Spain.
Genetics. 2012 May;191(1):247-59. doi: 10.1534/genetics.111.135988. Epub 2012 Feb 23.
Transmission ratio distortion (TRD) is the departure from the expected genotypic frequencies under Mendelian inheritance. This departure can be due to multiple physiological mechanisms during gametogenesis, fertilization, fetal and embryonic development, and early neonatal life. Although a few TRD loci have been reported in mouse, inheritance patterns have never been evaluated for TRD. In this article, we developed a Bayesian binomial model accounting for additive and dominant deviation TRD mechanisms. Moreover, this model was used to perform genome-wide scans for TRD quantitative trait loci (QTL) on six F2 mouse crosses involving between 296 and 541 mice and between 72 and 1854 genetic markers. Statistical significance of each model was checked at each genetic marker with Bayes factors. Genome scans revealed overdominance TRD QTL located in mouse chromosomes 1, 2, 12, 13, and 14 and additive TRD QTL in mouse chromosomes 2, 3, and 15, although these results did not replicate across mouse crosses. This research contributes new statistical tools for the analysis of specific genetic patterns involved in TRD in F2 populations, our results suggesting a relevant incidence of TRD phenomena in mouse with important implications for both statistical analyses and biological research.
传递率失真(TRD)是指在孟德尔遗传规律下,偏离预期的基因型频率。这种偏离可能是由于配子发生、受精、胎儿和胚胎发育以及新生儿早期的多个生理机制造成的。尽管在小鼠中已经报道了少数几个 TRD 基因座,但从未对 TRD 的遗传模式进行过评估。在本文中,我们开发了一种贝叶斯二项式模型,该模型考虑了加性和显性偏差的 TRD 机制。此外,该模型还用于对涉及 296 至 541 只小鼠和 72 至 1854 个遗传标记的六个 F2 小鼠杂交进行全基因组 TRD 数量性状基因座(QTL)扫描。通过贝叶斯因子在每个遗传标记处检查每个模型的统计显著性。基因组扫描显示,在小鼠染色体 1、2、12、13 和 14 上存在超显性 TRD QTL,在小鼠染色体 2、3 和 15 上存在加性 TRD QTL,尽管这些结果在不同的小鼠杂交中没有复制。这项研究为分析 F2 群体中 TRD 所涉及的特定遗传模式提供了新的统计工具,我们的研究结果表明,TRD 现象在小鼠中具有较高的发生率,这对统计分析和生物研究都具有重要意义。