What is the Difference Between Germline Mutation and Somatic Mutation?

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Germline mutations and somatic mutations are two types of genetic alterations that can occur in an individual's DNA. Here are the main differences between them:

Germline Mutations:

  • Occur in the sperm or egg cells during conception, making them hereditary.
  • Present in all the body's cells, including the germ cells.
  • Changes can be passed on to offspring.
  • Germline mutations are responsible for inherited conditions and can contribute to the development of certain diseases.
  • Germline pathogenic variants are identified through blood samples or buccal cells from a patient.

Somatic Mutations:

  • Occur after conception in any cell other than the egg and sperm, making them not hereditary.
  • Present in both healthy and cancer cells, but they are not present in every cell in the body.
  • Changes are not passed from parent to child.
  • Somatic mutations can occur sporadically and do not pass to future generations.
  • Somatic mutations are detected by either testing the tumor directly or through a liquid biopsy of a blood sample.

In summary, germline mutations are inherited and can be passed on to offspring, while somatic mutations are not hereditary and are present in specific cells. Germline mutations can lead to inherited diseases, whereas somatic mutations often contribute to the development of cancers and are not passed on to the next generation.

Comparative Table: Germline Mutation vs Somatic Mutation

Here is a table comparing germline mutations and somatic mutations:

Feature Germline Mutations Somatic Mutations
Definition Changes to the DNA sequence inherited from the egg and sperm cells during conception. Changes to the DNA sequence that happen after conception to cells other than the egg and sperm.
Inheritance Inheritable, meaning they can be passed from parents to their children. Not hereditary, meaning they cannot be passed from parents to their children.
Occurrence Occur in the germ cells (sperm and egg) and can be passed on to offspring. Occur in somatic or body cells and are not passed on to offspring.
Timing Occur during meiotic division during the formation of gametes. Occur after conception in any cell of the body.
Effects Can cause genetic disorders, variations, and species evolution. May lead to genetic conditions that affect health, but most mutations do not cause problems.
Examples Inherited genetic disorders like cystic fibrosis, sickle cell anemia, etc. Spontaneous mutations in body cells that cause cancer, other diseases, but not hereditary.

In summary, germline mutations are inherited from parents and occur in germ cells, while somatic mutations occur in body cells and are not inherited. Germline mutations can lead to genetic disorders, while somatic mutations may cause diseases like cancer but are not hereditary.