Human genetic variation is the genetic differences both within and among populations. There may be multiple variants of any given gene in the human population (genes), leading to polymorphism. Many genes are not polymorphic, meaning that only a single allele is present in the population: the gene is then said to be fixed.[1]
No two humans are genetically identical. Even monozygotic twins, who develop from one zygote, have infrequent genetic differences due to mutations occurring during development and gene copy number variation.[2] Differences between individuals, even closely related individuals, are the key to techniques such as genetic fingerprinting. Alleles occur at different frequencies in different human populations, with populations that are more geographically and ancestrally remote tending to differ more.
Causes of differences between individuals include the exchange of genes during meiosis and various mutational events. There are at least two reasons why genetic variation exists between populations. Natural selection
may confer an adaptive advantage to individuals in a specific
environment if an allele provides a competitive advantage. Alleles under
selection are likely to occur only in those geographic regions where
they confer an advantage. The second main cause of genetic variation is
due to the high degree of neutrality of most mutations. Most mutations do not appear to have any selective effect one way or the other on the organism. The main cause is genetic drift, this is the effect of random changes in the gene pool. In humans, founder effect
and past small population size (increasing the likelihood of genetic
drift) may have had an important influence in neutral differences
between populations. The theory that humans recently migrated out of Africa supports this.
The study of human genetic variation has both evolutionary
significance and medical applications. It can help scientists understand
ancient human population migrations as well as how different human
groups are biologically related to one another. For medicine, study of
human genetic variation may be important because some disease-causing
alleles occur more often in people from specific geographic regions. New
findings show that each human has on average 60 new mutations compared
to their parents.[3][4]
Apart from mutations, many genes that may have aided humans in ancient
times plague humans today. For example, it is suspected that genes that
allow humans to more efficiently process food are those that make people
susceptible to obesity and diabetes today.
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