Genotype – Concept, importance, examples and human genome

We explain what the genotype is and what is its difference with the phenotype. Also, why is it important, what is the human genome and examples.

Genotype - DNA - metabolism
All the characteristics that make up the individual are found in the genotype.

What is the genotype?

By genotype we mean set of genetic information stored in the DNA of an organism particular, whose totality in terms of species makes up the genome. Or put another way: each living being has a specific genotype, which is the total of genetic information housed in its cells; but the genotype of the entire species constitutes the human genome.

In the information contained in the genotype are all the characteristics that constitute the individual, from its internal functioning, its physical appearance and its possible congenital diseases. The physical manifestation of such information, also influenced by the environment, is what is considered the phenotype. I mean:

Genotype + Environment = Phenotype.

The study of genes and inheritance has allowed us humans to understand much better than ever the ways in which biological information is transmitted from one generation to the next, which occurs through the replication of genes contained in the genotype.

Difference between genotype and phenotype

Genotype - Phenotype
The phenotype is the physical manifestation of the genotype influenced by the environment.

The difference between genotype and phenotype is the difference between the mold and the result. The genotype operates as a template or a pattern, that is, as a set of genetic information that determines each fundamental aspect of the constitution and functioning of the body of a living being.

Instead, the phenotype is the result of the materialization or expression of said template, which It can be more or less faithful to the guidelines, depending on the environment in which the individual develops.

Thus, the genotype allows the transmission of genetic information, even when said information is not expressed or materialized in the phenotype of the individual. That is the reason why it could instead manifest itself in a descendant of hers, since he has received the genetic information in inheritance.

Importance of the genotype

The genotype is the set of genetic information, which contains the evolutionary successes and failures of a species, something fundamental for future generations that will perpetuate it. In this sense, it is the greatest biological treasure of each species of living being, and the damage that it may suffer from sources such as ionizing radiation, certain diseases or some chemical substances, put the permanence of this information at risk.

Human genome

Genotype - human genome - DNA
Studies try to know which segments determine which phenotypes in each individual.

The genome of the human species has been the object of study during the second half of the 20th century, especially after the inauguration in 1990 of the Human Genome Project, aimed at determining the exact sequence of the chemical bases that make up the DNA of our species, and then identifying and mapping them, in order to be able to “translate” that genetic information and know which segments determine what phenotypes in the genome of each individual of the species. This task was completed in July 2016, although the exact function of each segment is not yet known, but there is a very good map of its entirety and its main content areas.

Thanks to that many congenital diseases can be better understood and attacked in contemporary medicine, and the doors were opened to gene therapy, which is giving great results in the eradication of diseases until now considered incurable.

Genotype examples

It is difficult to properly give examples of a genotype, but we can give examples of information contained in the genotype of a species, such as:

  • Predispositions to suffer certain diseases or suffer from conditions derived from a specific condition in the metabolism or any other body system.
  • Visually identifiable physical features, such as hair and eye color, skin tone, facial features, or hair density.
  • Body proportions, such as height, propensity to obesity, etc.
  • Certain behavioral tendencies that are linked in some way to the brain, nerve transmission or the assimilation of substances ingested through food.