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A haplotype sharing method for determining the relative age of SNP alleles.

机译:用于确定SNP等位基因相对年龄的单倍型共享方法。

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摘要

There are two aspects regarding the age of alleles that are relevant as indicators of the timing of mutational events. The first is to know which alleles are species-specific; the second is about the time of origin of species-specific alleles. Both aspects can be analyzed using haplotype-sharing methods, by using the length of shared haplotypes as a measure of the speed of coalescence to common ancestors. The availability of sequence data for closely related species makes it possible to infer the original SNP allele. The allele present in more than one species is the original allele. In general, original alleles are expected to be more frequent, because the cumulative effects of genetic drift determine the maximum frequency a new mutant can reach. The human species is relatively young, and founder effects are still observable as extended linkage disequilibrium. Coalescence to a single founder takes place in human populations over a time frame that is so small that original haplotypes spanning several markers are still observable in current high-density SNP genotyping arrays. We show here that the length of shared haplotypes surrounding alleles is an indicator of the relative ages of alleles, and it is applicable to original and species-specific alleles.
机译:有两个方面有关与突变事件的时机的指标相关的等位基因年龄。首先要知道哪些等位基因是特定的物种;第二个是关于物种特异性等位基因的起源的时期。通过使用单倍型共享方法可以使用单倍型共享方法来分析两个方面,作为共同的单倍型作为共同祖先的聚结速度的量度。密切相关的物种的序列数据的可用性使得可以推断出原始的SNP等位基因。在一个以上物种中存在的等位基因是原始等位基因。通常,预期原始等位基因更频繁,因为遗传漂移的累积效应决定了新突变体可以达到的最大频率。人类物种是相对较小的,创始的作用仍然可观察到延长的连锁不平衡。对单个创始人的聚结在人口中发生在人口中,这是如此小的,这使得跨越几个标记的原始单倍型仍然可观察到当前的高密度SNP基因分型阵列中。我们在这里展示共享单倍型周围等位基因的长度是等位基因相对年龄的指标,适用于原始和物种特异性等位基因。

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