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Hardy-Weinberg Principle

Hardy-Weinberg Principle

Diploid organisms have two alleles of each gene, one from each parent, in their somatic cells. Therefore, each individual contributes two alleles to the gene pool of the population. The gene pool of a population is the sum of every allele of all genes within that population and has some degree of variation. Genetic variation is typically expressed as a relative frequency, which is the percentage of the total population that has a given allele, genotype or phenotype.

Genetics of Speciation

Genetics of Speciation

Speciation is the evolutionary process resulting in the formation of new, distinct species—groups of reproductively isolated populations.

What is Population Genetics?

What is Population Genetics?

A population is composed of members of the same species that simultaneously live and interact in the same area. When individuals in a population breed, they pass down their genes to their offspring. Many of these genes are polymorphic, meaning that they occur in multiple variants. Such variations of a gene are referred to as alleles. The collective set of all the alleles within a population is known as the gene pool.

Gene Flow

Gene Flow

Gene flow is the transfer of genes among populations, resulting from either the dispersal of gametes or from the migration of individuals.

Mutation, Gene Flow, and Genetic Drift

Mutation, Gene Flow, and Genetic Drift

In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).

X-linked Traits

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.

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Native American admixture in the Quebec founder population.

Claudia Moreau¹, Jean-François Lefebvre, Michèle Jomphe

¹Centre de Recherche, CHU Sainte-Justine, Université de Montréal, Montréal, Québec, Canada.

|June 19, 2013

Summary

Early Native American admixture in Quebec, though modest, increased population diversity and stratification. This genetic heterogeneity impacts genetic mapping studies, particularly for complex diseases.

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Next-generation Sequencing of 16S Ribosomal RNA Gene Amplicons

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Published on: August 29, 2014

Area of Science:

Population genetics
Human genomics
Genetic epidemiology

Background:

Founder populations and genetic isolates have been historically crucial for genetic mapping of Mendelian disorders and complex diseases due to presumed genetic homogeneity.
The Quebec founder population, established by French settlers, exhibits specific disease-causing mutations, but its genetic homogeneity has been questioned.
Previous studies have not investigated early Native American admixture as a factor contributing to genetic heterogeneity in this population.

Purpose of the Study:

To investigate the extent and impact of early Native American admixture in the Quebec founder population.
To assess the contribution of this admixture to genetic heterogeneity and its implications for genetic mapping studies.

Main Methods:

Genome-wide autosomal data analysis using ADMIXTURE and HAPMIX software.
Identity-by-descent analysis with fastIBD software comparing Quebec individuals to Native American populations.
Correlation of genomic admixture estimates with genealogical data.

Main Results:

Consistent estimates of approximately 1% Native American admixture were found using multiple genomic methods.
Genomic admixture results showed good correlation with genealogical estimates, despite limitations in historical records.
The admixture, while modest overall, significantly contributes to population diversity and demographic stratification across Quebec.

Conclusions:

Early Native American admixture is a significant factor in the genetic heterogeneity of the Quebec population.
The variable degree of admixture among individuals and regions challenges the assumption of homogeneity, impacting genetic susceptibility locus mapping.
Understanding this admixture is crucial for refining genetic association studies and interpreting results in the Quebec population.