Medical Genetics - V. M. Zaporozhan 2005

Etiology of Hereditary Diseases
Classification of Mutations
Somatic and Germline Mutations

Somatic Mutations occur in somatic Cells at any stage of ontogeny and are not inherited through sexual reproduction. Mutations that arise during early embryonic development can lead to mosaic forms of chromosomal and Monogenic Disorders. For example, sporadic cases of Duchenne muscular dystrophy may be driven by somatic mutations. They have also been described in neurofibromatosis.

In the postembryonic period, such mutations influence tumor formation. Every malignant tumor is the result of 4 to 7 or more sequential somatic mutations. They can also cause alterations in The Cell's antigenic structures, triggering an Immune Response from the body (autoimmune aggression). The accumulation of somatic mutations is considered one of the driving factors of Aging.

Germline mutations occur in sex cells. Phenotypically, they do not manifest in the individual themselves, but are inherited by their offspring.



Last update: 11/08/2026

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