Mitochondrial and nuclear genetic contribution of female founders to a contemporary population in northeast Quebec

Am J Hum Genet. 1995 Jun;56(6):1450-5.


A common challenge in population genetics is to reconstruct the evolutionary history of populations on the basis of current allele frequencies. Through pedigree analysis, we have the opportunity to study the genetic contribution of founders to the contemporary population. This contribution over many generations accounts for the probable introduction, survival, and extinction of genes in the population. I use this method to follow nuclear and mitochondrial genes in the Saguenay population of northeast Quebec by tracing back ascending genealogies of 160,315 individuals born between 1950 and 1971 by using the BALSAC database. This study leads us to conclude that even in a growing population, the loss rate of mtDNA is high. The survival of mtDNA in the population is independent of the time of introduction in the population. The number of copies of a particular mtDNA gene in the contemporary population is higher for genes introduced earlier, but the correlation between these two variables is low (the relation is not linear). Compared to nuclear contribution, mitochondrial contribution is higher, but the loss rate of nuclear DNA is lower. The differential contribution (the fact that few founders contribute a lot) is the same proportion for nuclear and mtDNA, but only 592 female founders contribute 50% of the mtDNA gene pool of the contemporary cohort, compared to 994 for nuclear DNA. Since we have no molecular data on founders' haplotypes, these results cannot give us the diversity level in the population. However, this study enables us to compare the evolutionary fates of nuclear and mitochondrial genes in this expanding population.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biological Evolution
  • Cell Nucleus / genetics*
  • DNA, Mitochondrial / genetics*
  • Databases, Factual
  • Emigration and Immigration
  • Europe / ethnology
  • Female
  • Founder Effect*
  • Humans
  • Mitochondria / genetics*
  • Models, Genetic
  • Pedigree
  • Quebec
  • Time Factors
  • White People / genetics


  • DNA, Mitochondrial