Hereditary diseases - the reasons for their occurrence
Hereditary diseases are those diseases,which are transmitted through the sex cells from generation to generation. In total there are more than six thousand diseases of this species. About a thousand of them today can be identified even before the birth of a child. Also, these diseases can occur at the end of the second dozen lives, and even after 40 years. The main cause of the emergence of hereditary diseases are mutations of genes or chromosomes.
Classification of hereditary diseases
Hereditary diseases are divided into two groups:
- Single-causal or mono-factorial. These are diseases that are associated with mutations in chromosomes or genes.
- Multichannel or multifactorial. These are the diseases that arise as a result of changes in different genes and due to the influence of numerous environmental factors.
For the appearance of a similar disease in someonefrom family members, this person should have a similar or the same combination of genes already available from his close relatives. That is why hereditary diseases are associated with the presence of common genes in relatives of various degrees of kinship.
The degree of kinship and the proportion of common related genes
Since every relative of the first degree of kinshipthe patient has 50% of his genes, so these people can have an identical combination of genes, predisposing to the appearance of this ailment. Relatives of the third and second degree of kinship have a somewhat lesser likelihood of possessing the same set of genes with the patient.
Hereditary diseases - species
Hereditary disease can have more than one species. Distinguish:
- Chromosomal diseases.Often when dividing a cell, it happens that individual pairs of chromosomes stay together. As a result, the number of chromosomes in a new cell is greater than in others. This fact leads to a metabolic disorder. These diseases occur in 1 of 180 newborns. These children have numerous congenital malformations, mental retardation, and so on.
- Violations in the autosomes lead to multiple and serious ailments.
- Gene mutations. Monogenic diseases imply 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 in the process of the structure of the operon, a protein with an irregular structure is synthesized. As a result, pathological metabolic products accumulate, which is very harmful to the brain.
There are other hereditary diseases.Before proceeding to their treatment, it is necessary to undergo a complete diagnosis. Doctors recommend to be extremely attentive to all future mothers, whose family has 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 reduced to a minimum. The main thing to remember is that any hereditary disease, with medical intervention at a certain desired period of time, can flow much easier.