1. Lecture 55 Mutations Ozgur Unal
NIS - BIOLOGY
Lecture 55
Mutations
Ozgur Unal

2. Mutations
What kind of mistakes do you do when you type a text in computer?

3. Mutations Cells sometimes make mistakes during replication.
However, these mistakes are rare and the cell has repair mechanisms that can repair some damage.
Sometimes a permanent change occurs in a cell’s DNA and this is called mutation.
Example: Wrinkled and round seeds
Pea plant seeds are wrinkled
due to the absence of an
enzyme  mutation in the
gene that produces the enzyme.

4. Types of Mutations
Mutations can range from changes in a single base pair in the coding sequence of DNA to the deletions of large pieces of chromosomes.
Point mutations involve a chemical change in just one base pair and can be enough to cause a genetic disorder.
A points mutation in which
one base is exchanged for
another is called a substitution.
There are 2 types of substitutions:
Missense mutations  wrong amino acid
Nonsense mutations  stop codon

5. Mutations
Another type of mutation involves the gain or loss of a nucleotide in the DNA sequence.
Insertion  addition of a nucleotide to the DNA sequence
Deletion  loss of a nucleotide in the DNA sequence
Insertions and deletions change the frame of the amino acid sequence!!
Chack out Table 12.3 for types of mutation and
associated genetic disorders.

6. Mutations Large portions of DNA also can be involved in a mutation.
Tandem repeats  increase in the number of copies of repeated codons.
Example: Fragile X syndrome (mental and behavior impairments)
Near the end of a normal X chromosome
there is a section of CGG codons that repeat
about 30 times.
Individuals with fragile X have CGG codons
that repeat hundreds of times.

7. Mutations
Even small changes, such as substitutions, can lead to genetic disorders.
The change of one amino acid for another can change the sequence of amino acids in a protein enough to change both the folding and stability of the protein.
Example: Sickle cell disease is caused by a single point mutation.
The codon for glutamic acid (GAA) has been changed to a valine (GUA) in the protein.
This change in composition changes the structure
of hemoglobin and is the cause of this disorder.

8. Causes of Mutation Some mutations can occur spontaneously  very rare
Some mutations occur due to substances that damage DNA.
Example: Radiation and certain chemicals
Substances which cause mutations are called mutagens.
X-rays and gamma rays have high energies  damage DNA
UV rays have lower energy, but they can still cause a damage in the DNA  causes adjacent thymines to bind to each other in the DNA

9. Mutation
When a mutation occurs in a body cell (also called somatic cell), it becomes a part of the genetic sequence in that cell and in future daughter cells.
When a mutation occurs in sex cells (also called germ-line cells), it is passed on to the organism’s offspring and will be present in every cell of the offspring.