What is a mutation?

„ Any change in DNA

„ Any abnormal change in genetic material.
Mutations Some can be inherited by the next
generation.
The process by which the sequence
of base pairs in a DNA molecule is
altered.
Remember that genes are located in DNA!!!

What causes a mutation? Types of mutations

1.) Changes in the environment OR „ Point mutations
mutagens small (but significant) changes, often in
a. ultraviolet radiation a single nucleotide base.
b. pollutants and chemicals „ Deletions
c. tar from tobacco
remove information from the gene. A
deletion could be as small as a single base
2.) Errors during replication, transcription, or as large as the gene itself.
or translation

Types of mutations Guess which type of mutation..

„ Insertions Normal:
occur when extra DNA is added into an As the man saw the dog hit the can end it is
existing gene.

As the man saw the doT hit the can end

„ Frame Shift
when either addition or deletion of one or two Point mutation
nucleotide bases. When this occurs, the “reading
frame” is changed so that all the codons read As the man saw thehit the can end
after the mutation are incorrect.
deletion

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Guess which type of mutations…
As the man saw the FAT dog hit the can end
insertation
As the man saw the ogh itt hec ane nd it is
frameshift
SICKLE CELL ANEMIA
„ Sickle cell anemia is a hereditary disease
that causes red blood cells to be shaped
like moons.
„ It is due to a single nucleotide sibstitution.
„ This results in a single amino acid
substitution in the hemogloblin molecule.
CYSTIC FIBROSIS
„ Affect mucus and sweat glands of the body
and is caused by a defective gene.
„ Thick mucus is formed in the breathing
passages of the lungs
„ Predisposes the person to chronic lung
infections
Disorders that result from mutations
„ Sickle Cell Anemia
„ PKU
„ Cystic Fibrosis
Phenylketonuria (PKU)
„ Inherited disorder that causes a lack of the
enzyme that metabolizes phenylalanine
(an amino acid).
„ Results in a build up of phenylalanine and
effect the central nervous system.
How else do mutations occur?
„ Errors can occur in the processes of Mitosis or
meiosis
„ This is NOT hereditary…. Its just a mistake in
procedure!!
„ This is called NONDISJUNCTION
„ The chromosomes fail to separate so you get
some homologous chromosomes migration over
together instead of separating.
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„ If this happens you get sex cells like this:
„ sperm cellegg cell
24
23 chromosomes
chromosomes
„ Example:
„ Trisomy 21 (Down’s syndrome)
„ Person will develop ALL cells with 47
chromosomes….they will have 3
chromosome # 21
Edwards Syndrome
„ It is like they stop developing ….
„ their brains are not properly developed
certain neurons don't make it all the way to
the outside of the brain but remain in little clusters
throughout the brain.
This means that they will frequently have
problems doing basic, instinctive, functions like
sucking, swallowing, and breathing.
„ When the egg and sperm cell come
together ….
„ You get a baby with 47 chromosomes!
„ All the homologous chromosomes pair up
and but you get one group of 3!
Where is the extra chromosome?
„ holes in the heart that don't close
„ openings in the back (spina bifida) and
stomach (omphalocele)
„ organs that are not properly formed.
„ Additionally, Trisomy 18 babies are usually
small, as if they stopped developing and
growing about the 7th month in utero.
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