What are the types of genetic mutations?
NewsWhat are mutations?
Experts distinguish 2 types:
- germinal
- somatic
Germinal (from the English germ – germ) mutations are called congenital DNA changes or germline mutations.
They:
- present in all cells of the body;
- arise due to changes in the genetic material of the germ cells of the parents, after which these changes are transmitted to the children.;
- may indicate the hereditary nature of the disease;
- may be found in relatives.
To determine germinal mutations, practically any fabric the body.
Typically, these are blood (nucleated cells – lymphocytes) or buccal (buccal) epithelium for a reason accessibility and simplicity work with this material.
Somatic (from the Greek soma-body) mutations are changes in the genetic material of one somatic cell (any cells of the body, except sex), which leads to the emergence of cell clone (tissue site, organ) with a genotype that different from the genotype of neighboring "normal" cells (somatic mosaicism).
They:
- present only in "damaged" tissues;
- arise during life;
- not inherited;
- but they can occur in some hereditary syndromes (for example, Proteus syndrome), as well as in patients with malignant neoplasms.;
- allow you to individually select targeted drugs.
To determine somatic mutations, the DNA of damaged tissue.
Most often this is the material biopsies.
