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腾讯登录Science：研究揭示人类数量激增后出现的罕见等位基因
| 导读 | 5月11日，国际著名杂志<em>Science</em>在线刊登了国外研究人员的最新研究成果“Recent Explosive Human Population Growth Has Resulted in an Excess of Rare Genetic Variants，”，文章中，研究者揭示了自人类数量激增以来出现了更多的罕见等位基因。
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5月11日，国际著名杂志<em>Science</em>在线刊登了国外研究人员的最新研究成果“Recent Explosive Human Population Growth Has Resulted in an Excess of Rare Genetic Variants，”，文章中，研究者揭示了自人类数量激增以来出现了更多的罕见等位基因。
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据研究人员报告，人类群体中的罕见基因变异体数量随着人口数在过去的1万年间的暴增而有所增加。这些发现对模拟人口变化的遗传模型有影响，因为这些模型通常是以数目相对较少的完全获得了测序的基因组为基础的。众所周知，人类种群在过去的400个世代中至少扩大了3个数量级，而其真正开始大规模扩大是在过去的2000年中。
但是，该种增长对我们基因组的影响则不甚清楚。应用人类基因组的数据，Alon Keinan 和 Andrew Clark检测了人群数目的增长对我们探查罕见基因变异能力的影响。他们发现，在人类基因组中的罕见变异体数目比那些没有考虑这一人口快速增长的人口遗传模型，或由样本规模相对较小的实证研究所决定的人口遗传模型所预测的要大得多。相反，结合了这一高增长率的较大种群的研究则能较好地识别突变的频率。
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<br/><strong>Recent Explosive Human Population Growth Has Resulted in an Excess of Rare Genetic Variants</strong><br/>
Alon Keinan1,*, Andrew G. Clark1,2
Human populations have experienced recent explosive growth, expanding by at least three orders of magnitude over the past 400 generations. This departure from equilibrium skews patterns of genetic variation and distorts basic principles of population genetics. We characterized the empirical signatures of explosive growth on the site frequency spectrum and found that the discrepancy in rare variant abundance across demographic modeling studies is mostly due to differences in sample size. Rapid recent growth increases the load of rare variants and is likely to play a role in the individual genetic burden of complex disease risk. Hence, the extreme recent human population growth needs to be taken into consideration in studying the genetics of complex diseases and traits.
稿件<br/>来源：生物谷
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据研究人员报告，人类群体中的罕见基因变异体数量随着人口数在过去的1万年间的暴增而有所增加。这些发现对模拟人口变化的遗传模型有影响，因为这些模型通常是以数目相对较少的完全获得了测序的基因组为基础的。众所周知，人类种群在过去的400个世代中至少扩大了3个数量级，而其真正开始大规模扩大是在过去的2000年中。
但是，该种增长对我们基因组的影响则不甚清楚。应用人类基因组的数据，Alon Keinan 和 Andrew Clark检测了人群数目的增长对我们探查罕见基因变异能力的影响。他们发现，在人类基因组中的罕见变异体数目比那些没有考虑这一人口快速增长的人口遗传模型，或由样本规模相对较小的实证研究所决定的人口遗传模型所预测的要大得多。相反，结合了这一高增长率的较大种群的研究则能较好地识别突变的频率。
<div id="ztload">
<div>
<div>
<img src="http://www.bioon.com/biology/UploadFiles/201205/2012051110260328.jpg" alt="" width="113" height="149" border="0" />
</div>
<div>
<br/><strong>Recent Explosive Human Population Growth Has Resulted in an Excess of Rare Genetic Variants</strong><br/>
Alon Keinan1,*, Andrew G. Clark1,2
Human populations have experienced recent explosive growth, expanding by at least three orders of magnitude over the past 400 generations. This departure from equilibrium skews patterns of genetic variation and distorts basic principles of population genetics. We characterized the empirical signatures of explosive growth on the site frequency spectrum and found that the discrepancy in rare variant abundance across demographic modeling studies is mostly due to differences in sample size. Rapid recent growth increases the load of rare variants and is likely to play a role in the individual genetic burden of complex disease risk. Hence, the extreme recent human population growth needs to be taken into consideration in studying the genetics of complex diseases and traits.
稿件<br/>来源：生物谷
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