Human genetic variation in the context of "Copy-number variation"

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⭐ Core Definition: Human genetic variation

Human genetic variation is the genetic differences in and among populations. There may be multiple variants of any given gene in the human population (alleles), a situation called polymorphism.

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. Differences between individuals, even closely related individuals, are the key to techniques such as genetic fingerprinting.

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Human genetic variation in the context of Schizophrenia

Schizophrenia is a mental disorder characterized variously by hallucinations (typically, hearing voices), delusions, disorganized thinking or behavior, and flat or inappropriate affect. Symptoms develop gradually and typically begin during young adulthood and rarely resolve. There is no objective diagnostic test; diagnosis is based on observed behavior, a psychiatric history that includes the person's reported experiences, and reports of others familiar with the person. For a formal diagnosis, the described symptoms need to have been present for at least six months (according to the DSM-5) or one month (according to the ICD-11). Many people with schizophrenia have other mental disorders, especially mood, anxiety, and substance use disorders, as well as obsessive–compulsive disorder (OCD).

About 0.3% to 0.7% of people are diagnosed with schizophrenia during their lifetime. In 2017, there were an estimated 1.1 million new cases and in 2022 a total of 24 million cases globally. Males are more often affected and on average have an earlier onset than females. The causes of schizophrenia may include genetic and environmental factors. Genetic factors include a variety of common and rare genetic variants. Possible environmental factors include being raised in a city, childhood adversity, cannabis use during adolescence, infections, the age of a person's mother or father, and poor nutrition during pregnancy.

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Human genetic variation in the context of Recent human evolution

Recent human evolution refers to evolutionary adaptation, sexual and natural selection, and genetic drift within Homo sapiens populations, since their separation and dispersal in the Middle Paleolithic about 50,000 years ago. Contrary to popular belief, not only are humans still evolving, their evolution since the dawn of agriculture is faster than ever before. It has been proposed that human culture acts as a selective force in human evolution and has accelerated it; however, this is disputed. With a sufficiently large data set and modern research methods, scientists can study the changes in the frequency of an allele occurring in a tiny subset of the population over a single lifetime, the shortest meaningful time scale in evolution. Comparing a given gene with that of other species enables geneticists to determine whether it is rapidly evolving in humans alone. For example, while human DNA is on average 98% identical to chimpanzee DNA, the so-called Human Accelerated Region 1 (HAR1), involved in the development of the brain, is only 85% similar.

Following the peopling of Africa some 130,000 years ago, and the recent Out-of-Africa expansion some 70,000 to 50,000 years ago, some sub-populations of Homo sapiens have been geographically isolated for tens of thousands of years prior to the early modern Age of Discovery. Combined with archaic admixture, this has resulted in relatively significant genetic variation. Selection pressures were especially severe for populations affected by the Last Glacial Maximum (LGM) in Eurasia, and for sedentary farming populations since the Neolithic, or New Stone Age.

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