What is it in genetics?

In genetics, some gene mutations are able to cause disease. Sometimes everyone with mutation shows symptoms of this disease and sometimes only some people carrying mutation symptoms show. The proportion of people who show symptoms of mutation is called the penetration of the gene.

If a person bears a gene that is associated with health, this does not necessarily mean that the gene will cause disease. Like the action of the gene, other parameters such as environmental stress and coexistence of other interactive genes can change the development of health conditions. On the other hand, the presence of some genes means that the disease always occurs.

complete penetration is a scientific term where the presence of a gene always leads to a disease. One example of complete penetration is the condition of type 1 neurofibomatosis. Another example is a certain mutation of a particular gene called FGFR3, which always causes the carrier to have achondroplasia and show KLInic signs of dwarf.

Marfan syndrome is another health condition with complete penetration. Although the presence of a mutated gene leads to clinically visible symptoms, symptoms may vary in severity from humans to humans. More obvious cases have bone abnormalities or circulatory problems, but mild cases can only show small, almost unnoticed features such as long fingers and high figure.

Reduced or incomplete penetration means that not all people with genetic mutation develop symptoms of related disease. Some mutations have a high probability of symptoms, while others have low penetration. The reasons why some people's absence of illness and the development of problems in other people is not very well understood. However, research into the involvement of coexisting genes in the development of the disease has found that in some cases other genes act as mutated gene modifiers andThey prevent expressing unhealthy properties.

Incomplete penetration indicates mutations that have less than 100 percent penetration. One such example is the BRCA1 gene mutation, which is associated with breast cancer. This gene mutation means that about 80 percent of women with mutation will develop breast cancer at some point in their lives, but 20 percent will not. Retinoblastoma, eye cancer, also has a genetic cause, although mutations do not always lead to cancer.