Stacey Andrew, Sheffield Nathan C, Crandall Keith A
Department of Statistics, Brigham Young University, Provo, UT 84602, USA.
BMC Genet. 2008 Oct 17;9:66. doi: 10.1186/1471-2156-9-66.
Recent advancements in sequencing and computational technologies have led to rapid generation and analysis of high quality genetic data. Such genetic data have achieved wide acceptance in studies of historic human population origins and admixture. However, in studies relating to small, recent admixture events, genetic factors such as historic population sizes, genetic drift, and mutation can have pronounced effects on data reliability and utility. To address these issues we conducted genetic simulations targeting influential genetic parameters in admixed populations.
We performed a series of simulations, adjusting variable values to assess the affect of these genetic parameters on current human population studies and what these studies infer about past population structure. Final mean allele frequencies varied from 0.0005 to over 0.50, depending on the parameters.
The results of the simulations illustrate that, while genetic data may be sensitive and powerful in large genetic studies, caution must be used when applying genetic information to small, recent admixture events. For some parameter sets, genetic data will not be adequate to detect historic admixture. In such cases, studies should consider anthropologic, archeological, and linguistic data where possible.
测序和计算技术的最新进展使得高质量遗传数据能够快速生成和分析。此类遗传数据在历史人类群体起源和混合研究中已获得广泛认可。然而，在与近期小规模混合事件相关的研究中，诸如历史群体规模、遗传漂变和突变等遗传因素会对数据的可靠性和实用性产生显著影响。为解决这些问题，我们针对混合群体中有影响的遗传参数进行了遗传模拟。
我们进行了一系列模拟，调整变量值以评估这些遗传参数对当前人类群体研究的影响，以及这些研究对过去群体结构的推断。最终的平均等位基因频率根据参数不同，从0.0005到超过0.50不等。
模拟结果表明，虽然遗传数据在大型遗传研究中可能敏感且强大，但在将遗传信息应用于近期小规模混合事件时必须谨慎。对于某些参数集，遗传数据不足以检测历史混合情况。在这种情况下，研究应尽可能考虑人类学、考古学和语言学数据。
