At the End of Today, You

Should Know:
 What is a mutation?
 What are some examples of harmful
mutations?
 Neutral Mutations are…
 What are some examples of beneficial
mutations?
What is a Mutation?

 Abrupt, heritable changes in a single

gene or a region of a chromosome,
can also include alterations in
chromosome number
 Mutations are the fuel for evolution
and are the basis for the variation in
population.
 What is a Mutation?

 Can be when one letter is switched - accidentally

copied incorrectly within the DNA.
 When one section of the DNA, sometimes an entire
gene, is not properly connected to the rest of the
DNA; sometimes it even reconnects to another
chromosome
 One section of DNA, sometimes an entire gene,
appears more than once
 What is a Mutation?

 More or less chromosomes than 46

 Will only get passed on to offspring when the
sex cells contain the mutation
 Can be caused after birth by environmental
factors like radiation and chemicals, which can
alter a person’s DNA, even in their sex cells,
causing their offspring to have disorders
Down’s Syndrome

• Offspring receives 3 copies of 21st

chromosome
 90% of the time the extra chromosome
comes from the mother
 Affects 1 in 800 live births
 Effects of Down’s Syndrome

 Different in each person

 Does not usually pass this onto children
 Common effects include
 Learning Disabilities
 Heart defects (can usually be corrected with
modern technology)
Turner’s Syndrome

 45 (instead of 46) chromosomes

 offspring are born with one X chromosome
(no Y; only one X)
 only affects women
 In about 80% of cases the X comes from the
mother and the father’s sperm has no Y
 Affects 1 in 2500 live births
Effects of Turner’s
Syndrome
• Sometimes a lack of ovarian development
• Can have more masculine qualities (stronger),
although are female
 In some cases:
 Webbed neck
 Arms that turn in at the elbow
 Low hairline on the back of the head
 Klinefelter’s Syndrome

• Offspring inherit a Y chromosome and

two X chromosomes
 Because there is a Y all offspring are male
 Sometimes the extra X comes from the
egg and sometimes it comes from the
sperm
 Occurs in 1 out of every 500 – 1000 live
births
Effects of Klinefelter
Syndrome
 Sparse facial and body hair
 Underdeveloped muscles
 Wide hips
 Tall height
 Long legs & arms
 Higher-pitched voice
Albinism

 Caused by a recessive gene

 Causes genes to release unusual
amounts of melanin (chemical that
provides color)
 Affects 1 in 17,000 people
 People of all races are susceptible
 All animals are susceptible
Effects of Albinism

 Light skin
 Light hair
 Reddish or violet eyes (in some
albinos)
 Lack of eye pigment leads to vision
problems
 Skin cancer – especially in third world
countries
 
                                                         
                                           
 
     
                                          
 
     
                                             
 
        
                                 
There are MANY other
mutations…
Not all
Mutations
Are Bad…
 Mutations Can Be Neutral

 They may have little or no effect on the survival

of an organism or on its ability to reproduce.
 They may result in the same kind of organism -
meaning that the change still tells the cell to do
what it should, so there is no difference.
 It is estimated that the average human has 50-
100 mutations within their DNA - most (if not
all) are neutral or beneficial
Mutations Can Be Beneficial

 Bacterial resistance to antibiotics

 Insecticide resistance in bugs

 Rapid mutation rates in virus’s

proteins allowing them to adapt to
new “hosts”
 Mutations Can Be Beneficial

 In humans, it can be a different set of

circumstances… Here’s an example:
 Sickle-Cell Anemia is a genetic disorder in which
there is a defect in the structure of red blood
cells. This leads to fatigue and anemia when not
treated.
 However, it has been found that people who are
carriers for Sickle-Cell Anemia also has some
genetic protection against another disease,
malaria.
 Mutations Can Be Beneficial
• In evolutionary studies, scientists have connected
the presence of a brain chemical microcephalin (a
proposed mutation) with the human’s development
of art, music, and complex tool-making practices
 This same research indicates that the human brain is
still evolving and becoming more and more capable
of more complex tasks
 Some humans have been found to have mutations
that protect them from other diseases, such as AIDS