Science

10 Examples of Mutations

These examples of mutations demonstrate the way in which the different alterations of the DNA or genetic code , cause modifications in the organism.

Mutations are changes that occur randomly at the level of a person’s genetic code that is represented by DNA, also known as Deoxyribonucleic Acid .

DNA is made up of nitrogenous bases, phosphate, sugar and hydrogen bonds, which form a double helix and establish the structure responsible for transmitting genetic information between different generations.

By mentioning 10 examples of mutations, it will be possible to determine how the occurrence of small but decisive errors in DNA can cause physical alterations of variable intensity.

However, mutations are not always a symbol of some alteration that is necessarily transmitted from generation to generation, since they are also responsible for the evolution of species.

Examples of mutations

Mutations are capable of causing damage at the structural and molecular level of DNA, which can have a greater or lesser impact on an organism depending on the type of alteration.

All the cells of the organism require an organization scheme that guarantees their functioning that is totally determined by DNA.

So the information is transmitted from one generation to the other because DNA is capable of replicating itself to multiply the information that it encodes.

When there is any alteration, the consequence will depend on the type of cell and the function it fulfills as well as the organ or system to which it belongs.

When errors occur in the process in which the sex cells of a man and a woman unite (fertilization), mutations occur that end up causing genetic syndromes:

1. Neurofibromatosis

Neurofibromatosis is a genetic alteration that causes, as a consequence, an alteration in the structure of the nerves, favoring the appearance of generally benign tumors.

However, there are some of them that do not escape suffering from cancer and this can be accompanied by bone involvement depending on the type of involvement.

2. Edwards syndrome

Also known as chromosome 18 trisomy, it also consists of an aneuploidy-type alteration in view of the existence of an excess of chromosome 18.

Consequently, there are brain and heart alterations and low weight and height at birth that make it incompatible with life.

3. Klinefelter syndrome

It is a syndrome that affects the number of sex chromosomes in men, who are born with an excess X chromosome, so that they have the XXY sex chromosomes .

The presence of the Y chromosome determines that they are men only who could present infertility and in some cases, a slight mental retardation.

4. Turner syndrome

Also known as X chromosome monosomy, it is a syndrome characterized by the presence of a single X chromosome in women, instead of XX.

Women born with this condition have physical growth retardation, do not reach sexual maturity and may be infertile and have a higher risk of kidney and heart disorders.

5. Down syndrome

Down syndrome, also known as chromosome 21 trisomy, is an aneuploidy-type chromosomal mutation characterized by an excess of chromosome 21.

This small alteration generates cognitive behavioral, cardiac, gastrointestinal and physiognomy alterations of the person who possesses it and occurs with a frequency of 1 case every 800 births.

6. Unipolar Depression

It is a type of depression that occurs as a consequence of the mutation in the G1463A gene that encodes an enzyme related to the metabolism of serotonin.

Its absence generates depressive states as there is no control over serotonin related to mood.

7. Gastritis Type A

Type A gastritis is a genetic alteration that ends up causing inflammation of the stomach in its highest portions, causing effacement of its folds and pernicious anemia.

8. Peutz-Jeghers syndrome

Peutz-Jeghers syndrome is the clinical syndrome caused by the mutation of a tumor suppression gene that causes gastrointestinal polyps and dark skin lesions.

Its presence has been associated with a high risk of developing cancer in the digestive system.

9. Cystic Fibrosis

Cystic fibrosis is a disease that occurs secondary to the alteration in the production of mucus by the lungs digestive system (pancreas) and reproductive system.

Consequently, severe alterations occur in the systems described above and those affected have serious physical limitations mainly due to pulmonary involvement that can lead to death.

10. Inflammatory Bowel Disease (IBD)

Inflammatory bowel disease is a disorder that affects the digestive tract, mainly the small and large intestine, which in turn includes two entities: Ulcerative Rectocolitis and Crohn’s disease .

Although there are a series of immunological factors, a genetic component has been established that is transmitted from generation to generation and favors its appearance.

People with these disorders suffer from diarrhea with blood that generates severe physical alterations.

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