4.2 Article

Effective population size of current human population

Journal

GENETICS RESEARCH
Volume 93, Issue 2, Pages 105-114

Publisher

HINDAWI LTD
DOI: 10.1017/S0016672310000558

Keywords

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Funding

  1. Korean Government (MOEHRD) [KRF-2007-532-C00017]
  2. Korean Government [NRF-2009-353-C00061]
  3. Korea Institute of Science and Technology Information (KISTI) [KSC-2009-S01-0003]
  4. National Research Foundation of Korea [353-2009-2-C00061] Funding Source: Korea Institute of Science & Technology Information (KISTI), National Science & Technology Information Service (NTIS)

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In order to estimate the effective population size (N-e) 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 N-e of the current population, and the former provides the same when the N-e is constant. If N-e fluctuates, recent N-e changes are reflected in the estimates based on LE, and the comparison between two estimates can provide information regarding recent changes of N-e. Using HapMap Phase III data, the estimates were varied from 622 to 10 437, depending on populations and estimates. The N-e appeared to fluctuate as it provided different estimates for each of the two methods. These N-e estimates were found to agree approximately with the overall increment observed in recent human populations.

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