What Are Gene Mutations And What Do They Mean?

Gene mutations are changes that occur in a person’s genotype. A genotype is a person’s genetic information that is located in each person’s DNA or deoxyribonucleic acid. DNA contains a person’s hereditary material.

When DNA mutates, different proteins are synthesized, changing the original phenotype. The phenotype is a person’s set of visible traits as a result of interaction between their genotype and the environment. This new genotype is usually also less favorable than the original. However, this is not always the case.

We say that this is not always the case because even though  many diseases develop due to gene mutations, biological evolution has been possible due to gene mutations. Mutations caused living things to adapt to their environment, new species to emerge, and this helped to ensure that some species did not become extinct.

There are also neutral mutations. A neutral gene mutation does not harm or benefit the individual.

In this article we will talk about the different types of gene mutations and some of the diseases associated with them.

Where can gene mutations occur?

Gene mutations can occur at different levels:

• Gene mutations  are changes that occur at a molecular level, specifically in the DNA molecule. They therefore affect one or more nitrogen-containing bases, which are units that make up DNA strands.
• Genomic, numerical and karyotype mutations  occur at a genomic level. In other words, they occur when there is an extra or a missing chromosome. Each person has 46 pairs of chromosomes. People with other numbers therefore have a mutation of this type.
• Chromosome or structure mutations  occur at a chromosomal level.

Types of gene mutations

As we have mentioned above, gene mutations affect the chemical composition of a gene. In other words, a change occurs in the nucleotide sequence of the DNA that makes up the gene. Over time  , these mutations differ depending on the mechanism that caused them.

There are  four types of genetic mutations,  depending on the change they produce in the DNA chain. The chains are proteins that make up DNA for living things, just like small bricks. Their organization and position in DNA depends on bodily function as a whole.

1. Substitution

As the name suggests,  this is the exchange of one nitrogen-containing base with another. It occurs during the duplication process when the mechanisms fail and put a wrong base on the DNA strand.

Substitutions  are usually not harmful unless a codon is formed  or an amino acid from the active center of the protein is affected. An example of a disease caused by this type of mutation is sickle cell anemia.

2. Insertion

This type of genetic mutation is when an extra base is added. As a result, the person may suffer from various diseases:

• Albinism  or a decrease in the melanin pigment in the eyes, skin and hair.
• Alcaptunori. This involves dark urine, pigmentation of connective tissue and osteoarthritis.
• Phenylketonuria  or inability to synthesize tyrosine from phenylalanine in the liver.

3. Deletions

In contrast to the above, the base is omitted in this type of mutation. Insertion and deletion are more serious than substitution,  since they alter the entire amino acid chain. As a result, the message that DNA should transmit is decoded incorrectly.

4. Translocations

As the latter, this refers to the change in the location of the DNA segment. In other words, a piece of the molecule breaks off and gets stuck somewhere else. This translocation causes new nitrogen-containing bases to form. This changes the message being decoded, just like deletion and insertion.

Gene mutations: Conclusion

Gene mutations are different types of changes that occur in DNA. As a result, different proteins can synthesize and diseases can occur. However, this is not always the case. This is because during evolution, various mutations have taken place that have allowed individuals to survive and adapt.

It is important to do even more research into these mutations  to try to develop new treatments to treat diseases caused by them. Genetic studies also allow for a better understanding of the human species, our performance, and our ability to adapt.