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Lesson 7 - DNA Mutations

The document discusses how genetic mutations occur through changes in DNA sequences and chromosome numbers. Mutations can be caused during DNA replication and cell division, through substitution or frameshift mutations in DNA bases, or from the non-disjunction of chromosomes. Different types of mutations can have varying effects on proteins and result in genetic disorders.

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tanishknandal2009
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16 views

Lesson 7 - DNA Mutations

The document discusses how genetic mutations occur through changes in DNA sequences and chromosome numbers. Mutations can be caused during DNA replication and cell division, through substitution or frameshift mutations in DNA bases, or from the non-disjunction of chromosomes. Different types of mutations can have varying effects on proteins and result in genetic disorders.

Uploaded by

tanishknandal2009
Copyright
© © All Rights Reserved
Available Formats
Download as PPTX, PDF, TXT or read online on Scribd
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Starter

• Can a father who is red-green colour blind and a mother who is not (or
a carrier) have a child who is red-green colour blind?

• Can a mother who is red-green colour blind and a father who is not
have a child who is red-green colour blind?
Mutations
Not just in X-men
Learning Intention
• To learn how genetic mutations happen

Success Criteria
• I can describe how genetic mutations happen
Vocabulary
• Mutation – a permanent change in the sequence or amount of DNA
• Mutagen – a chemical or physical agent that causes change in genetic
material such as DNA
• Frameshift – a type of mutation in which a nucleotide is added or
deleted, causing a shift in the reading frame of codons and resulting in
a deformed protein
• Non-disjunction – the failure of one or more chromosomes to separate
during meiosis; can result in an abnormal number of chromosomes in
the daughter cells
Mutations
• Change in the sequence or amount of genetic material (DNA) that can
be passed on to a daughter cell
• Permanent change in the DNA
• Genetic mutation - in one gene or a number of genes
• Chromosomal mutation - part or all of a chromosome
How mutations happen
• Before meiosis or mitosis the DNA needs to be copied
• 3 billion nucleotides
• The order of the nucleotides nitrogen bases needs to be kept the same –
it is critical
• One tiny change in the sequence will change the order of amino acids in the
protein being made which may then affect how the protein functions
• On many occasions these changes are corrected or they do not change an
important part of the protein
• Blue eyes are actually the prevention of the production of the brown
pigment – a single nucleotide mutation many thousands of years ago
• Some mutations are deadly – like cancer
Mutagens
• Natural mutations occur at a continuous low rate
• Environmental factors (mutagens) can increase the frequency of
mutations
Genetic mutations
• Two types of single nucleotide (point) mutations
• Substitution mutations
• Frameshift mutations
Substitution mutation
• One nucleotide base is substituted for another
• Genetic code is read in groups of 3 (triplets) it may or may not have an effect on the
final protein
Consider the sentence:
THE CAT ATE THE RAT AND RAN FAR
With a substitution mutation it might read:
THE CAR ATE THE RAT AND RAN FAR
This small change will be passed on to the RNA but may not affect the order of amino
acids in the protein
• Sickle cell anaemia is an example of substitution mutation that does not affect the
final protein
• The protein haemoglobin produces is sticky and deformed so it doesn’t carry oxygen
as effectively leaving the person feeling tired
Frameshift mutation
• A deletion or an addition can have a large impact on how the genetic
code is read
Consider the sentence:
THE CAT ATE THE RAT AND RAN FAR
With a deletion it might read:
THE CAA TET HER ATA NDR ANF AR
With an addition it might read:
THE CAR TAT ETH ERA TAN DRA NFA R
Frameshift mutation
• Can have more damaging effects than substitution mutation because
they change the entire reading frame of DNA and RNA
• This produces a very different protein
• They will always produce a damaged protein
Mutations involving
chromosome number
• Usually the result of non-disjunction – the failure of a
chromosome pair to separate at the centromere in meiosis
• The daughter cells (gametes) will have too many or too
few chromosomes
• This will produce offspring with too many or too few
chromosomes if it is fertilised
• Down syndrome has 3 copies (trisomy) of chromosome
21.
Non-disjunction in sex chromosomes

• Can occur with both X and Y chromosomes


• Turner syndrome – Females only have 1 X chromosome
• Symptoms can include shorter than average height, infertility, webbing on
the neck, swollen hands and feet. It does not normally affect intellectual
ability
• Kleinfelter syndrome – Males with an extra X chromosome
• Affects fertility, muscle development and intellectual ability. Often
undiagnosed. Affects 1 in 660 males.
Cri du chat syndrome

• Caused by missing a portion of


chromosome 5
• Both males and females are affected
• Symptoms include having a high-pitched
cry (similar to that of a cat) as a baby
• Slow to grow
• Often have a small head
• Intellectual difficulties
• Fingers and toes can sometimes fuse
together
What am I doing now?
• Questions 1-4, 6, 7
Write a three-sentence summary of what you
have learned in the genetics topic

Exit task

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