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03 Somatic and Germline Mutations
03 Somatic and Germline Mutations
Genetic Change
Inquiry Question 1
How does mutation introduce
new alleles into a population?
Content:
• Recall effect of mutations on alleles in a population
• Distinguish between somatic and germline cells
• Discuss cause and impact of somatic mutations
• Discuss impact of germline mutations on successive generations
Somatic and
Germline Mutations
Remember:
• Genes code for proteins
• A change in a gene can mean a change in a
protein
• Alleles are different versions of a gene
• Mutations are a source of new alleles in a
population.
Somatic and germline cellls.
• Somatic cells are non-reproductive cells
• Germline cells are in the gonads and produce gametes
Somatic and Germline Mutations
• The type of cell in which a mutation occurs determines
whether it will be inherited and the impact of its effect.
• Most mutations are in somatic cells and not inherited.
• Mutations in germline cells may be inherited by successive
generations.
Somatic Mutations
• Often due to replication
errors prior to mitosis
• Occur in S phase of cell cycle
• Not repaired during
proofreading in G2 phase –
passed onto daughter cells
• Mutated cell continues to
divide – error is replicated
• Skin cancer is a common type
of mutation in somatic cells
Germline Mutations
• Occur in the sexual
reproductive cells that
produce gametes
• Mutations pass to offspring
• When embryo forms,
mutation is replicated in
every cell affecting all cells
in the resulting child
• cystic fibrosis, breast and
ovarian cancers are
common examples of
germline mutations
Activity: Write an extended response