Definition of Mutation, germline

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Mutation, germline: A heritable change in the DNA that occurred in a germ cell (a cell destined to become an egg or in the sperm) or the zygote (the conceptus) at the single-cell stage. (This is also termed gonadal mosaicism) When transmitted to a child, a germline mutation is incorporated in every cell of their body.

Germline mutations play a key role in genetic diseases. They play a role, too, in certain types of cancer as, for example, the eye tumor retinoblastoma and Wilms tumor, a childhood malignancy of the kidney.

A germline mutation is in contrast to a somatic mutation which is acquired in a single body cell.