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Genetic Mutations is a 56 slide power point presentation that explains the mechanisms of mutations, types of mutations: Deletion, invertion, translocationg, causes, types, genetic disorders and more. This presentation contains 3 formative assessments and 2 activities. In addition you will find 8 pages with students notes.
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What are Mutations?
Learning Outcomes:
The student will explain that during sexual reproduction, changes in genes (mutations) of sex cells can cause changes in characteristics that are inherited.
The student will discuss examples of beneficial and harmful mutations.

Protein synthesis summary

_______________ are changes in the genetic material.
Mutations can be INHERITED. This means that if a parent has a mutation in his or her DNA, then the mutation is passed on to his or her children.

Mutations can be ACQUIRED. This happens when environmental agents damage
DNA, or when mistakes occur when a cell copies its DNA prior to cell division.
Mutations can occur spontaneously when copying errors occur (replication is fast and there are lots of free nucleotides around during replication.) Exposure to mutagens – mutation causing agents in the environment

Frequency and repair of mutations. Chance of mutation is between
2-30 x 10-7. Faulty DNA can be repaired by specific enzymes.

Causes of mutations
Chromosomal Mutations
Results in changes in whole chromosomes and affect many genes. Can cause changes in the number of chromosomes
Trisomy 21 (Down Syndrome)
Trisomy 13
Turner’s Syndrome

Chromosome Mutations
Changes in number and structure of entire chromosomes, Chromosomal mutations affect many genes.

Original Chromosome ABC * DEF
Deletion AC * DEF
Duplication ABBC * DEF
Inversion AED * CBF
Translocation ABC * JKL
Chromosomal mutations
Gene deletion: Loss of chromosome sections

Chromosome mutations
Inversion: Flipping of parts of chromosomes
Chromosome Mutation Animation

Notice Any Patterns
Mutations can be Beneficial
Some mutations can provide an advantage which helps the organism survive
Beneficial Mutations

Sometimes, mutations can change a gene form in beneficial, way.

“Polymorphisms”: slight variations in a gene that make us different, ex: eye colors, blood types, etc.
Muscle bound: Gene mutation for muscle growth.
Helpful Mutations:

Some mutations do not effect the organism’s survival (the mutation does not help or hurt the organism)

Some mutations are harmful, and hurt the organism’s chances for survival
Harmful Mutations- Joined Parts
An example of webbed toes sometimes seen in Andersen's Syndrome, caused by a gene mutation.
Seven-Legged Frog
Mutation: Extra parts
Mutation: extra parts

Giant Rat
Hensel Twins

Learning Check No 1Task : Issues with Embryo screening?
Embryos can be screened
for the alleles that cause these
and other genetic disorders

Are you agree or disagree
To the screening of embryos to
Detect genetic disorders? Explain
Inherited Genetic Diseases

Tay–Sachs disease
Develops @ around 6 months of age
Nerves start deteriorating
accumulation of lipids on brain
brain malfunction; death by age 5
Child becomes blind, deaf, and unable to swallow
Down’s Syndrome
Caused by non-disjunction of the 21st chromosome. This means that the individual has a extra chromosome


Low muscle tone, Looseness
of joints, small skull, slanting eyes, excessive space between first and second toe.

In addition, down syndrome always involves some degree of mental retardation.

Turners Syndrome
Cystic fibrosis

Genetic disorder that results in accelerated aging
Caused by spontaneous mutations in autosomes

Huntington’s Disease
Huntington's is an inherited disease that affects the brain and nervous system
Causes damage to nerve cells in the areas of the brain involved in the control of movement and motivation
The symptoms include : tremor, clumsiness, lack of concentration, problems remembering things, depression, and mood changes.
Phenylketonuria or PKU
Caused by a deficiency of an enzyme which is necessary for proper metabolism of an amino acid called phenylalanine.
Phenylalanine is an essential amino acid and is found in nearly all foods which contain protein, dairy products, nuts, beans, tofu… etc.
Brain damage can result if the diet is not followed causing mental retardation
Patients are unable to produce skin or eye pigments, and thus are light-sensitive.
The altered gene does not allow the body to make the usual amounts of a pigment called "melanin".
Cause: homozygous recessives genes

Cancer occurs when cell division gets out of control.
Causes: exposure to some environmental factors : e.g. tobacco smoke or genetic predisposition

Blue People

Blue People of Troublesome Creek

1820 - French orphan Martin Fugate settled in Troublesome Creek
Married Elizabeth Smith - 7 children of whom 4 reported to be ‘blue’
Many consanguineous marriages (normally cousin - cousin)
One of their sons married an aunt

Genetic Detectives
Can you solve the mystery?

Some Human Genetic Disorders And Genetic Abnormalities
Genetic Detectives
Dr. Jones needs your help
Mystery disease
You must:
Read about the condition
Use the disease charts provided by your teacher
Determine how the mistery disease affects the body
Mysterious Disease symptoms
The patient doesn’t remember information or preform simple tasks. This is a mild mental illness. There is a loss of motor control as well as physical an mental habilities. At the end the nervous systems degenerates irreversibly.
What’s your diagnosis?
Your Task (10min)
Write a letter to the patient (Emma) that:
Identify the disorder
Explains what is a genetic mutation
Explains the symptoms, patterns of inheritance, and the description of the defect.
Explains why this disorder is harmful, neutral or beneficial mutation.

Great job
Total Pages
56 pages
Answer Key
Teaching Duration
90 minutes
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