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  • 什么是epistatic effects | 上位效应

    epistatic与interaction之间的区别与联系?

    genetic上的interaction是如何定义的?

    Epistasis is the phenomenon where the effect of one gene (locus) is dependent on the presence of one or more 'modifier genes', i.e. the genetic background.

    Epistasis上位效应,是指一个基因或者基因座在表型上的体现,依赖其他基因或基因座。换句话说就是一个基因的效果被其他基因mask了。

    In classical genetics, if genes A and B are mutated, and each mutation by itself produces a unique phenotype but the two mutations together show the same phenotype as the gene A mutation, then gene A is epistatic and gene B is hypostatic. For example, the gene for total baldness is epistatic to the gene for brown hair.

    在经典遗传学中,如果基因A和B都突变了,理论上它们都有各自独特的表型,但是如果A和B都突变了的表型与单独A突变的表型一样,那么就可以称A是epistatic,B是hypostatic。举一个极端的例子:比如控制秃顶的基因A就是控制发色的基因B的epistatic。

    这时就会出现有趣的悖论:显性隐性的规律不起作用了。

    sample size极大地影响了power,对于rare variant的影响更大,最大的就是interaction了。 

    如下:我们想看rare RET CD variants对表型的影响是否被common的RET risk alleles改变了。这里的common的就相当于秃顶基因座,rare就是发色基因座。

    RET Common and Rare Variants Epistasis
    To assess if the effects of rare RET protein-alternating variants changed with the dosage of common HSCR associated risk alleles (T for rs2435357 and A for rs9282834), we stratified samples into 3 groups: carrying zero, 1, or at least 2 common HSCR-associated risk alleles. Samples were further subdivided into 3 subgroups (totaling 9 , 3x3 combinations), according to the presence of mutations and their predicted pathogenicity (damaging and benign).

    Epistasis:The effects of an allele at one gene hide the effects of alleles at another gene;
    Recessive epistasis: The recessive allele of one gene hides the effect of another gene;
    Dominant epistasis: The dominant allele of one gene hides the effect of another gene;

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  • 原文地址:https://www.cnblogs.com/leezx/p/10835069.html
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