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A method for adjusting allele frequencies in the case of microsatellite allele drop-out

机译:在微卫星等位基因缺失的情况下调整等位基因频率的方法

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A new method is proposed to adjust allele frequencies when allelic drop-out is common. This method assumes Hardy-Weinberg equilibrium (HWE), and treats the problematic alleles as a one-locus two-allele system with dominance. By assuming that the homozygote frequency of the 'recessive' allele is measured correctly, we can back calculate the allele frequency of the 'dominant' allele, and adjust the heterozygote frequency accordingly. The drawback is that multilocus genotypes cannot be constructed and tests that use deviations from Hardy-Weinberg such as tests for bottlenecks become impossible. An example is given where a large homozygote excess (F-IS = 0.44) is adjusted to a reasonable level (F-IS = 0.046). The effect of scoring error was set in relation to sampling error and while F-IS values can be seriously biased, F-ST values are not necessarily so, if scoring error and sample size are both low. As sample size increases, the effect of scoring error increases.
机译:当等位基因缺失很常见时,提出了一种调整等位基因频率的新方法。该方法假定哈迪-温伯格平衡(HWE),并将有问题的等位基因视为具有优势的一基因座两等位基因系统。通过假设正确测量了“隐性”等位基因的纯合子频率,我们可以反算“显性”等位基因的等位基因频率,并相应地调整杂合子频率。缺点是无法构建多基因座基因型,使用与Hardy-Weinberg偏离的测试(例如瓶颈测试)变得不可能。给出了一个示例,其中将较大的纯合子过量(F-IS = 0.44)调整到合理的水平(F-IS = 0.046)。得分误差的影响是相对于采样误差而设置的,虽然F-IS值可能会严重偏向,但如果得分误差和样本量均较低,则F-ST值不一定会如此。随着样本数量的增加,评分误差的影响也会增加。

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