Medical Definition of Mutation, germline

  • Medical Author:
    William C. Shiel Jr., MD, FACP, FACR

    Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

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.

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Reviewed on 12/11/2018

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