germlinemutaties
Germlinemutaties, or germline mutations, are alterations in the DNA sequence that occur in the reproductive cells (sperm, egg, or early embryo) and are therefore heritable. Unlike somatic mutations, which arise in non‑reproductive cells and cannot be passed to offspring, germline mutations are present in every cell of the resulting individual. They can originate during meiosis, fertilization or early embryogenesis and are maintained through all subsequent cell divisions.
The spectrum of germlinemutaties includes single‑base substitutions, insertions or deletions, copy‑number variations, and chromosomal rearrangements. Many
Detection of germlinemutaties is routinely performed using genetic testing on germline tissue (blood, saliva, or cheek
Because germlinemutaties are inherited, their study intersects with ethics, particularly in the context of genetic counseling