CB3e Gene Mutation

Learning Outcomes:
CB3.19 Give examples of characteristics controlled by multiple genes.
CB3.20 Define the term mutation.
CB3.21 Describe some potential applications of mapping human
genomes.
CB3.22 Explain how a mutation can cause variation (limited to changes
in the protein formed, which can affect processes in which that
protein is needed).
CB3.23 Give examples of mutations in human genes that affect the
phenotype, and examples of those that have little or no obvious effect.
CB3.23 Explain why many mutations have no effect on the phenotype.

In a sentence in your book…

… explain what determined why you are the gender

that you are.
RECAP: Determining Sex

XX
Females have two X sex chromosomes.
Meaning we all received an X
chromosome from our mother.

XY
Males have one X and one Y sex
chromosome.
Meaning the boys in the room received
a Y chromosome from their father and
the girls received an X.
 Genes
Most characteristics are controlled by a
lot of genes, instead of just one.

Eye colour for instance:

 Mutation
How would you define the word mutation?

End
 Mutations

A mutation is a change in the sequence of

bases in the genetic code.
Mutations are what have brought about
variation amongst people.
 Mutations
Mutations in the DNA sequence won’t
always give you cool powers like the
X-men.

Most of the time

mutations have no
effect on the
phenotype.
 Mutations
A small change in the genetic code may
code for the same protein, meaning there
is no effect of the mutation.

A small change to the protein coded for

will also have a small effect on the
phenotype.
 Mutations
Sometimes a mutation produces an allele
that causes a big change in the protein
that is made.

This will affect the body in a big way.

A Sickle-cell mutation in the gene
that produces haemoglobin replaces
one amino acid with another.

This causes the protein to fold in a different way affecting

the way it works.
 Progress check
Answer the following questions:
1. What is a mutation?
hard
2. Why do some mutations not effect
the phenotype?
medium
3. How does a small change to DNA
affect the protein coded for?
easy
4. Explain one way in which a
mutation has a big effect on the
body.
When do Mutations Happen?
When do you think mutations might
happen? Where have we seen processes
that involve DNA?

End
 When do Mutations Happen?

Mutations happen when there is a mistake

copying division
in ……………… DNA during cell …………………
What are the names of the two types
of cell division we have looked at?

MITOSIS MEIOSIS
 RECAP
• Mitosis for growth and repair
• Meiosis for making sperm cells and egg cells
 Mutations
We know mutations occur naturally during
cell division.
How might mutations of cells be triggered
by external factors though?

Think about the hulk and other

superheroes that have had
their cells mutated.
 Mutations
Causes
• Naturally during cell division
• Radiation
• Other substances that change
DNA
• Radiation can cause mutation