Hereditary diseases are those diseases that are transmitted through the germ cells from generation to generation. In total, there are more than six thousand diseases of this type. About a thousand of them today can be identified even before the birth of the child. Also, these diseases can occur at the end of the second decade of life, and even after 40 years. The main cause of hereditary diseases are gene mutations or chromosomes.
Classification of hereditary diseases
Hereditary diseases are divided into two groups:
- Single cause or monofactor. These are diseases that are associated with mutations in the chromosomes or genes.
- Multi-cause or multi-factor. These are diseases that appear as a result of changes in various genes and due to the influence of numerous environmental factors.
For the appearance of a similar disease in one of the family members, this person must have a similar or the same combination of genes that his close relatives already have . That is why hereditary diseases are associated with the presence of common genes in relatives of varying degrees of kinship.
The degree of kinship and the proportion of total related genes
Since each relative of the first degree of relationship of the patient has 50% of his genes, therefore, these people can have an identical combination of genes that predisposes to the appearance of this disease. Relatives of the third and second degrees of kinship are slightly less likely to have the same gene set with the patient.
Hereditary Diseases - Species
Hereditary disease can have more than one look. Distinguish:
- Chromosomal diseases. In cell division, it often happens that individual pairs of chromosomes remain together. As a result, the number of chromosomes in a new cell is greater than in others. This fact leads to metabolic disorders. These diseases occur in 1 out of 180 newborns. These children have numerous congenital malformations, mental retardation and so on.
- Disorders in autosomes lead to multiple and serious ailments.
- Gene mutations. Monogenic diseases mean mutations in one gene. These diseases are inherited in accordance with Mendel’s law.
- Hereditary metabolic diseases. Almost all gene pathology is associated with hereditary metabolic diseases. When a mutation occurs during the structure of the operon, protein synthesis with an irregular structure occurs. As a result of this, pathological metabolic products accumulate, which is very harmful for the brain.
There are other hereditary diseases. Before proceeding with their treatment, it is necessary to undergo a complete diagnosis. Doctors recommend being extremely attentive to all expectant mothers in whose family there are patients with this diagnosis. This is because such pregnant women should be under special supervision. Only in this case, the degree of manifestation of this disease in the baby can be minimized. The main thing to remember is that any hereditary disease, with medical intervention in a certain desired period of time, can be much easier.