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Genetic variation is the difference in DNA among individuals [1] or the differences between populations among the same species. [2] The multiple sources of genetic variation include mutation and genetic recombination. [3] Mutations are the ultimate sources of genetic variation, but other mechanisms, such as genetic drift, contribute to it, as ...
A graphical representation of the typical human karyotype The human mitochondrial DNA. Human genetic variation is the genetic differences in and among populations.There may be multiple variants of any given gene in the human population (), a situation called polymorphism.
The word "allele" is a short form of "allelomorph" ("other form", a word coined by British geneticists William Bateson and Edith Rebecca Saunders) in the 1900s, [7] [8] which was used in the early days of genetics to describe variant forms of a gene detected in different phenotypes and identified to cause the differences between them.
The letters B and b represent alleles for colour and the pictures show the resultant flowers. The diagram shows the cross between two heterozygous parents where B represents the dominant allele (purple) and b represents the recessive allele (white). Traits that are determined exclusively by genotype are typically inherited in a Mendelian pattern.
Because so many variants are tested, it is standard practice to require the p-value to be lower than 5 × 10 −8 to consider a variant significant. Variations on the case-control approach. A common alternative to case-control GWA studies is the analysis of quantitative phenotypic data, e.g. height or biomarker concentrations or even gene ...
A 2009 study in developmental psychology examined non-cognitive traits including blood parameters and birth weight as well as certain cognitive traits, and concluded that "greater intrasex phenotype variability in males than in females is a fundamental aspect of the gender differences in humans".
Ronald Fisher in 1913. Genetic variance is a concept outlined by the English biologist and statistician Ronald Fisher in his fundamental theorem of natural selection.In his 1930 book The Genetical Theory of Natural Selection, Fisher postulates that the rate of change of biological fitness can be calculated by the genetic variance of the fitness itself. [1]
Genetic variation in humans may mean any variance in phenotype which results from heritable allele expression, mutations, and epigenetic changes. While human phenotypes may seem diverse, individuals actually differ by only 1 in every 1,000 base pairs and is primarily the result of inherited genetic differences. [ 8 ]