What is the difference between a germ line and a somatic mutation?

Germline mutations were determined by calling SNVs in DNA from offspring not present in parental DNA, while somatic mutations were identified as those present in single amplified fibroblasts or unamplified fibroblast clones, but not present in bulk DNA from the same cell populations.

What type of mutation is VHL?

Mutations in the VHL gene cause von Hippel-Lindau syndrome. The VHL gene is a tumor suppressor gene, which means it keeps cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in this gene prevent production of the VHL protein or lead to the production of an abnormal version of the protein.

What is somatic line mutation?

Somatic mutation, genetic alteration acquired by a cell that can be passed to the progeny of the mutated cell in the course of cell division. Somatic mutations differ from germ line mutations, which are inherited genetic alterations that occur in the germ cells (i.e., sperm and eggs).

Can a mutation be both germline and somatic?

Genes and chromosomes can mutate in either somatic or germinal tissue, and these changes are called somatic mutations and germinal mutations, respectively. These two different types are shown diagrammatically in Figure 15-3.

Can germ cells mutate?

Mutations can occur in either cell type. If a gene is altered in a germ cell, the mutation is termed a germinal mutation. Because germ cells give rise to gametes, some gamete s will carry the mutation and it will be passed on to the next generation when the individual successfully mates.

What is an example of germline mutation?

Germline mutations are the cause of some diseases, such as cystic fibrosis and cancer (eg, breast and ovarian cancer, melanoma). Cystic fibrosis is a hereditary genetic disorder that results in a thick, sticky buildup of mucus in the lungs, pancreas and other organs.

What are the symptoms of von Hippel Lindau disease?

Symptoms may include headaches, problems with balance and walking, dizziness, weakness of the limbs, vision problems, deafness in one ear, and high blood pressure. Individuals with VHL are also at a higher risk than normal for certain types of cancer, especially kidney cancer.

How do you know if a mutation is somatic?

An alteration in DNA that occurs after conception. Somatic mutations can occur in any of the cells of the body except the germ cells (sperm and egg) and therefore are not passed on to children. These alterations can (but do not always) cause cancer or other diseases.

What are the types of somatic mutation?

Somatic mutations are not reduced to point mutations but can be any genomic variation: repeats, deletions, insertions, multiplication, loss of copy number, and others. Chromosomal somatic mutations occur when somatic cells divide.

Why are somatic mutations not transmitted to offspring?

Mutations in somatic cells are called somatic mutations. Because they do not occur in cells that give rise to gametes, the mutation is not passed along to the next generation by sexual means. To maintain this mutation, the individual containing the mutation must be cloned.

What is an example of germ mutation?

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.