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Testing for Genetic Linkage in Families by a Variance-Components Approach in the Presence of Genomic Imprinting

机译:在存在基因组印迹的情况下通过方差成分方法测试家庭中的遗传联系

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摘要

Some genes that affect development and behavior in mammals are known to be imprinted; and ⩾1% of all mammalian genes are imprinted. Hence, incorporating an imprinting parameter into linkage analysis may increase the power to detect linkage for these traits. Here we propose theoretical justifications for a recently developed model for testing of linkage, in the presence of genetic imprinting, between a quantitative-trait locus and a polymorphic marker; this is achieved in the variance-components framework. We also incorporate sex-specific recombination fractions into this model. We discuss the effects that imprinting and nonimprinting have on the power of the usual variance-components method and on the variance-components method that incorporates an imprinting parameter. We provide noncentrality parameters that can be used to determine the sample size necessary to attain a specified power for a given significance level, which is useful in the planning of a linkage study. Optimal strategies for a genome scan of potentially imprinted traits are discussed.
机译:已知某些影响哺乳动物发育和行为的基因已被印记。并且所有哺乳动物基因中有⩾1%被留下了印记。因此,将印迹参数结合到连锁分析中可以提高检测这些特征连锁的能力。在这里,我们提出了一种新近开发的模型的理论依据,该模型用于在存在遗传印记的情况下,对数量性状基因座和多态性标记之间的连锁进行测试。这是在方差成分框架中实现的。我们还将性别特异性重组分数纳入该模型。我们讨论了压印和非压印对通常的方差分量方法和结合了压印参数的方差分量方法的影响。我们提供非中心性参数,这些参数可用于确定在给定的显着性水平下达到指定功效所需的样本量,这在规划链接研究中很有用。讨论了潜在印迹特征的基因组扫描的最佳策略。

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