Body processes

Genotype – Function, Task & Diseases


The genotype is the totality of all genes in the cell nucleus . Based on their arrangement, processes in the body are initiated and body compartments such as organs and external features are formed. The causes of many diseases are also hidden in the genotype.

What is the genotype?

The genes of the genotype are located on the 46 chromosomes of the human cell . The genotype includes the entire set of chromosomes that the individual inherited from his parents. Previously, the double sets of chromosomes in the parents were halved during meiosis . For this reason, the zygote, the resulting life, inherits a double set of chromosomes, since a halved chromosome is passed on from the parent generation.

On the one hand, genes are responsible for the expression of a phenotype , which is expressed in characteristics of the physical appearance and in the internal structure of the body. On the other hand, they carry the information for many different processes in the human organism. The genotype is nothing less than a microscopic imprint of the living thing. For this reason it is also known as a biological fingerprint .

function & task

The genes determine the biological process in the human and animal organism. They are based on specific base chains arranged in a double helix structure. The bases that make up genes include adenine and thymine , as well as guanine and cytosine . Adenine supplements thymine and guanine docks onto cytosine on the opposite DNA strands, which contain the genes and together support the double helix. 

Man is a eukaryotic organism. This means that its genetic material is enclosed in and protected by a cell nucleus. In prokaryotic organisms, the strands of DNA reside in the cytoplasm and swim throughout the organism.

All metabolic processes begin at the genetic level. As part of its genetic predisposition, the body is able to produce metabolic products and to react to external influences. Messenger substances in the human organism read the genetic material like a data carrier and use this data to initiate processes such as protein production or the formation of individual enzymes . In addition, the genetic material determines certain characteristics of the body such as size, appearance or the functionality of organs. These traits are formed during ontogeny and body growth due to genetic predisposition.

The genes are previously recombined during intercourse and subsequent fertilization of the egg cell , giving the zygote a unique gene complex. The recombination of the genotypes of the parent generation ensures a high variability and flexibility of the population.

Evolutionary advantages can arise thanks to mechanisms such as recombination and mutation , a random change in the genetic makeup. In this way, the gene pool of a population is effectively updated. This favors the adaptability of organisms to constantly changing environmental influences. Species with high adaptability have an increased chance of surviving.

Therefore, genotype composition has been shown to be a fundamental condition for an individual’s survival and reproductive success. Effective changes in a species’ gene pool, however, occur over time periods that a human lifetime cannot cover. For this reason, nowadays humans can only determine large-scale mutations retrospectively. In epigenetics , however, small-scale gene changes can also be detected in the course of a human life.

It is undeniable that man’s success story over the past millennia is due to a high degree of adaptability and fortunate mutations in genetic material.

Diseases & Ailments

Accordingly, genetic predispositions determine many aspects of human life from the outset. While some people have an exceptionally good predisposition, other people suffer from faulty or insufficient genetic predispositions. In today’s research, the opinion is that a large part of the diseases emanate from the genetic material. For example, allergies and intolerances are highly hereditary. A weak immune system can also have genetic causes. 

People with a high susceptibility to lung disease or the common cold often have relatives with the same susceptibility. In many families, clinical pictures occur more frequently. For example, someone who has several relatives who have or have had heart disease also shows an increased risk of potential heart disease . The same is true of the many different types of diseases that belong to the group of carcinogenic diseases. Cancer risk appears to be passed from parent to child. A young woman who has many cases of breast cancerin the family is exposed to a significantly higher risk of developing the disease than a person without cancer in the family.

With other diseases, the so-called hereditary diseases , it is not just a risk that is inherited. Since the diseases are encoded by specific sections on the chromosomes, they can be inherited in their entirety in the child generation. The best-known hereditary diseases include Wilson’s disease , albinism and cystic fibrosis . A special feature among hereditary diseases is trisomy 21 , also known as Down syndrome. Here the zygote receives three instead of the usual two chromosomes of the 21st chromosome pair.

The unveiling of the genotype and the recording of its sequence of data has led to advances in diagnostics. With prenatal diagnostics , the risk of disease in an embryo for many pathological phenomena can now be calculated. This means that prophylactic measures can be taken more and more frequently. Unfortunately, the discovery of the risk of many diseases has not yet coincided with strategies to combat them. Nevertheless, knowledge of the genotype helps to localize responsible, defective areas and thus research the origins of the disease.

Lisa Newlon
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Hello! I am Lisa Newlon, and I am a medical writer and researcher with over 10 years of experience in the healthcare industry. I have a Master’s degree in Medicine, and my deep understanding of medical terminology, practices, and procedures has made me a trusted source of information in the medical world.