Austerlitz Frédéric, Kalaydjieva Luba, Heyer Evelyne
Laboratoire Ecologie, Systématique et Evolution, Université Paris-Sud, F-91405 Orsay, France.
Genetics. 2003 Nov;165(3):1579-86. doi: 10.1093/genetics/165.3.1579.
The frequency of a rare mutant allele and the level of allelic association between this allele and one or several closely linked markers are frequently measured in genetic epidemiology. Both quantities are related to the time elapsed since the appearance of the mutation in the population and the intrinsic growth rate of the mutation (which may be different from the average population growth rate). Here, we develop a method that uses these two kinds of genetic data to perform a joint estimation of the age of the mutation and the minimum growth rate that is compatible with its present frequency. In absence of demographic data, it provides a useful estimate of population growth rate. When such data are available, contrasts among estimates from several loci allow demographic processes, affecting all loci similarly, to be distinguished from selection, affecting loci differently. Testing these estimates on populations for which data are available for several disorders shows good congruence with demographic data in some cases whereas in others higher growth rates are obtained, which may be the result of selection or hidden demographic processes.
在遗传流行病学中，常对罕见突变等位基因的频率以及该等位基因与一个或多个紧密连锁标记之间的等位基因关联水平进行测量。这两个量都与该突变在群体中出现后所经历的时间以及突变的内在增长率（可能与群体平均增长率不同）有关。在此，我们开发了一种方法，利用这两类遗传数据对突变的发生时间以及与其当前频率相符的最小增长率进行联合估计。在缺乏人口统计学数据的情况下，它能提供对群体增长率的有用估计。当有此类数据时，对来自多个基因座的估计值进行对比，可以区分对所有基因座有类似影响的人口统计学过程与对不同基因座有不同影响的选择作用。在有多种疾病数据的群体上检验这些估计值，结果显示在某些情况下与人口统计学数据高度一致，而在另一些情况下则得到较高的增长率，这可能是选择或隐藏的人口统计学过程导致的。
