Park Leeyoung
Natural Science Research Institute, Yonsei University, 134 Shinchon-Dong, Seodaemun-Ku, Seoul 120-749, Korea.
Genet Res (Camb). 2011 Apr;93(2):105-14. doi: 10.1017/S0016672310000558. Epub 2011 Mar 31.
In order to estimate the effective population size (Ne) of the current human population, two new approaches, which were derived from previous methods, were used in this study. One is based on the deviation from linkage equilibrium (LE) between completely unlinked loci in different chromosomes and another is based on the deviation from the Hardy-Weinberg Equilibrium (HWE). When random mating in a population is assumed, genetic drifts in population naturally induce linkage disequilibrium (LD) between chromosomes and the deviation from HWE. The latter provides information on the Ne of the current population, and the former provides the same when the Ne is constant. If Ne fluctuates, recent Ne changes are reflected in the estimates based on LE, and the comparison between two estimates can provide information regarding recent changes of Ne. Using HapMap Phase III data, the estimates were varied from 622 to 10 437, depending on populations and estimates. The Ne appeared to fluctuate as it provided different estimates for each of the two methods. These Ne estimates were found to agree approximately with the overall increment observed in recent human populations.
为了估计当前人类群体的有效种群大小(Ne),本研究采用了两种源自先前方法的新方法。一种基于不同染色体上完全不连锁位点之间连锁不平衡(LE)的偏差,另一种基于哈迪-温伯格平衡(HWE)的偏差。当假设群体中随机交配时,群体中的遗传漂变自然会导致染色体之间的连锁不平衡(LD)以及偏离HWE。后者提供了当前群体Ne的信息,当Ne恒定时,前者也提供相同信息。如果Ne波动,近期Ne的变化会反映在基于LE的估计中,两种估计之间的比较可以提供有关Ne近期变化的信息。使用国际人类基因组单体型图计划(HapMap)第三阶段数据,根据群体和估计方法的不同,估计值在622到10437之间变化。Ne似乎存在波动,因为两种方法各自给出了不同的估计值。这些Ne估计值与近期人类群体中观察到的总体增长大致相符。