genetic mutations

What is a genetic mutation?

A change in the DNA sequence of a gene

What do genes provide instructions for?

Making proteins

When can mutations occur?

Spontaneously during DNA replication or due to mutagenic agents

What are mutagenic agents?

External factors like radiation, chemicals, or viruses that cause mutations

Can mutations be inherited?

Yes, some are passed from parents to offspring

What are silent mutations?

Mutations that do not affect the protein's function or the individual

How can mutations affect proteins?

They can alter structure/function or prevent protein production entirely

What could happen if a gene for an enzyme is mutated?

The enzyme may be nonfunctional, leading to disease

Can mutations be beneficial?

Yes, some provide advantages like disease resistance

Can mutations be harmless?

Yes, some cause physical changes with no negative effects

What is a harmful mutation?

A mutation that negatively affects the organism’s health

What is a lethal mutation?

A mutation that causes a disease or disorder leading to death

Give an example of a beneficial mutation

A mutation that gives resistance to a disease

List 3 examples of diseases caused by mutant alleles

Colon cancer, cystic fibrosis, Huntington's disease

Name 3 more diseases caused by mutations

Malignant melanoma, sickle-cell anaemia, Tay-Sachs disease

Name 2 additional diseases caused by mutant alleles

Breast cancer, familial hypercholesterolaemia

What could cause a mutation besides an error in DNA replication?

Exposure to radiation, chemicals, or viruses

If a mutation has no effect on a protein, what is it called?

A silent mutation

What kind of mutation gives an organism a survival advantage?

A beneficial mutation

What do we call a mutation that leads to a deadly disease?

A lethal mutation

Which mutation-related disease affects red blood cells?

Sickle-cell anaemia

Which disease is linked to mutations and high cholesterol levels?

Familial hypercholesterolaemia

How can a mutation lead to a disorder?

By altering or preventing the production of a functional protein

Can mutations be both inherited and caused by the environment?

Yes

Figure 1: Gene mutations.