Discover The Main Types Of Genetic Mutations
Did you know that there are many types of genetic mutations? These are changes in genotype. Genotype refers to the genetic information that is found in the DNA of each of us. DNA (deoxyribonucleic acid) contains our hereditary material.
When DNA undergoes mutations, different proteins are synthesized, which modifies the original phenotype. The phenotype consists of the visible characteristics of a person, which results from the interaction between the genotype and the environment. The new phenotype, resulting from genetic mutations, is usually less favorable than the original. But this is not always the case.
Although many diseases develop due to genetic mutations, biological evolution is based on this process. Mutations allow living things to adapt to the environment, make it possible for new species to appear and prevent their extinction.
There are also neural mutations. Their effects are neither negative nor positive.
In the following, we will show you the different types of genetic mutations, as well as the diseases they can cause.
Where do genetic mutations take place?
Genetic mutations can occur at different levels:
- Gene mutations: Represents changes in DNA molecules. They affect one or more nitrogenous bases, ie the units that make up the strands of DNA.
- Genomic, numerical or karyotypic mutations: They occur at the genomic level. In other words, they occur when a chromosome is missing or there is an extra one.
- Chromosomal or structural mutations: Occur in chromosomes.
Types of genetic mutations
As mentioned earlier, genetic mutations affect the chemical composition of genes. In other words, there is a change in the nucleotide sequence of the DNA that makes up the gene. Genetic mutations differ depending on the mechanism that triggered them.
There are four types of genetic mutations that alter DNA strands differently. These chains are proteins that, like small walls, make up the DNA of living things. Their organization and arrangement determine the functioning of the body.
1. Substitutions
As their name suggests, substitution mutations involve changing one nitrogenous base to another. These mutations occur during the duplication process, when the mechanism fails and a wrong base is inserted into the DNA strand.
Substitutions are not harmful as long as a codon is not formed and none of the amino acids in the active center of the protein are affected. Diseases caused by substitutions include sickle cell anemia.
2. Inserts
This type of genetic mutation occurs when an additional nitrogenous base appears. As a consequence, the patient may suffer from diseases such as:
- Albinism (reduction of melanin levels in eyes, skin and hair)
- Alkaptonuria (a disease involving dark urine, connective tissue pigmentation and osteoarthritis)
- Phenylketonuria (inability of the liver to synthesize tyrosine from phenylalanine)
3. Delights
Unlike inserts, deletions involve the loss of a nitrogenous base. These two types of genetic mutations are more serious than substitutions because they alter the entire chain of amino acids. Because of them, the message that DNA has to convey is encoded in the wrong way.
4. Relocations
Last but not least, translocations aim at changing the position of certain segments of DNA. Specifically, a fragment of the molecule breaks and subsequently binds to another section of it. The relocations cause the appearance of new triplets of nitrogenous bases. As with inserts and deletions, they change the message encoded in DNA.
conclusions
Genetic mutations are changes in DNA. Because of them, different proteins can be synthesized, leading to the appearance of certain disorders. But this does not always happen. The process of evolution depends on mutations that allow living things to adapt in order to survive.
Scientists must continue to study genetic mutations to discover new therapies to treat the diseases they cause. At the same time, genetic studies allow a better understanding of the human species, our performance and our ability to adapt.
