Gene Mutations: What Are They?

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Genetic mutations can occur naturally or be induced and have varying effects, from benign to malignant. They can be hereditary, acquired, or deliberately created through genetic engineering. Natural variation is important for the health and evolution of a species.

A genetic mutation is a change in the genetic material of an organism. Gene mutations can occur for a variety of reasons and have a range of effects, from benign to malignant. Benign mutations in the genetic material explain why people look very different, for example, while cancer is caused by malignant genetic mutations. Using genetic testing, doctors and researchers can identify individual spots in an organism’s DNA where a genetic mutation has occurred and learn more about the mutation process.

Hereditary or germline mutations occur when the egg or sperm develop mutations that are passed on to the baby. These mutations often occur due to errors in the generation of eggs and sperm, although they can also be errors passed down from generation to generation. If a genetic mutation occurs after fertilization, as might happen when some of the rapidly dividing cells in a developing fetus change, it is a new or de novo mutation. Both types of mutation can lead to congenital disabilities or can be so minimal that they are not apparent.

People can also acquire genetic mutations during their lifetime, in response to random errors in cell division, environmental pressures, or exposure to substances that interact with DNA. These types of acquired mutations tend to cause mosaicism, in which a genetic mutation is present in only some cells of an organism, rather than throughout the body. Cancer is a classic example of an acquired genetic mutation.

Researchers can also use genetic engineering to deliberately create a mutant gene. Scientists sometimes induce genetic mutations in the laboratory to study how mutations occur and what effects they have on the body, and they can also introduce beneficial mutations, such as resistance to crop pests, into commonly grown crops. Creating genetic variance for research purposes can be very useful, as researchers can take a generation of similar animals and alter their DNA to see a full spectrum of presentations of a mutation, from mild to severe.

Natural variation in a population is a sign of good health. Variations in the genetic material ensure that the organisms are robust and suggest that a large pool of interbreeding organisms is perpetuating the species. Along the way, both harmful and beneficial mutations can emerge, slowly contributing over time to the continued evolution of a species or the emergence of an entirely new species. The researchers used stable mutations to trace the evolutionary history of the organisms of interest.




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