This document discusses different types of mutations that can occur in DNA. It defines mutations as changes in the nucleotide sequence of DNA that can happen either in somatic cells or gametes. There are two main types of mutations: chromosomal mutations, which involve changes to the structure or number of chromosomes, and gene mutations, which are changes to a single gene. Chromosomal mutations include deletions, inversions, translocations, nondisjunction, and duplications. Gene mutations can be point mutations such as substitutions, silent mutations, missense mutations, or nonsense mutations. Frameshift mutations are also a type of gene mutation that change the reading frame of DNA. Mutations can be either harmful if they cause diseases or beneficial if they improve organism

1. GOOD
DAY!

3. Mutations

4. What Are Mutations?
• Changes in the
nucleotide sequence
of DNA
• May occur in somatic
cells (aren’t passed
to offspring)
• May occur in
gametes (eggs &
sperm) and be
passed to offspring

5. Chromosome Mutation
Animation

6. Are Mutations Helpful or
Harmful?
• Some type of skin
cancers and leukemia
result from somatic
mutations
• Some mutations may
improve an organism’s
survival (beneficial)

7. TYPES OF
MUTATION
•CHROMOSOMAL
MUTATION
•GENE MUTATION

8. CHROMOSOMAL
MUTATIONS

9. CHROMOSOMES

10. KARYOTYPE
(complete sets of chromosomes)

11. Chromosomal Mutations
• May Involve:
–Changing the
structure of a
chromosome
–The loss or
gain of part of
a chromosome

12. Chromosomal Mutations
• Five types exist:
–Deletion
–Inversion
–Translocation
–Nondisjunction
–Duplication

13. Deletion
• Due to breakage
• A piece of a
chromosome is lost

14. Variable facial dysmorphology

15. Inversion
• Chromosome segment breaks off
• Segment flips around backwards
• Segment reattaches

16. Hemophilia

17. Duplication
• Occurs when a gene sequence is
repeated

18. Pallister Killian syndrome

19. Translocation
• Involves two
chromosomes that
aren’t homologous
• Part of one
chromosome is
transferred to
another chromosomes

20. Translocation

21. Leukemia

22. Nondisjunction
• Failure of
chromosomes to
separate during
meiosis
• Causes gamete to
have too many or
too few
chromosomes

25. Down syndrome

28. Have you ever
dreamed of being a
super hero?

29. Who’s your
favorite superhero?

30. Compare your work with the Original DNA
sequence:
1. Describe the difference between your mutated
DNA sequence and the Original DNA sequence.
2. Did the mRNA also change? If yes, describe
its difference between the original mRNA
transcript.
3. Did the Amino acid sequence also change? If
yes, describe its difference between the original
Amino acid sequence.

31. GENE
MUTATIONS

32. Gene Mutations
• Change in the nucleotide
sequence of a gene
• May only involve a single
nucleotide
• May be due to copying
errors, chemicals,
viruses, etc.

33. Point Mutation
• Change of a single
nucleotide
• Includes the
substitution of
ONE nucleotide in a
gene

34. Silent Mutation
• change in the DNA sequence of the
gene has no effect on the amino acid
sequence

35. Missense Mutation
• occurs when a single nucleotide base in
a DNA sequence is swapped for
another one, resulting in a different
codon and, therefore, a different amino
acid.

36. Nonsense Mutation
• occurs in DNA when a sequence
change gives rise to a stop codon
rather than a codon specifying an
amino acid.

37. Types of Point Mutations

38. Frameshift Mutation
• Inserting or
deleting one or
more nucleotides
• Changes the
“reading frame”
like changing a
sentence

39. Frameshift Mutation
 Original:
The fat cat ate the wee rat.
 Frame Shift (“a” added):
 The fat caa tet hew eer
at.
 Frame Shift (“h” deleted):
Tef atc ata tet hew eer at.

40. Amino Acid Sequence Changed
Proteins are built incorrectly.

41. GENETIC MUTATION:
HELPFUL OR HARMFUL?

42. GENE MUTATION
POINT MUTATION
SUBSTITUTION
SILENT MUTATION
NO EFFECT IN
AMINO ACID
SEQUENCE
MISSENSE
MUTATION
GIVE RISE TO
DIFFERENT AMINO
ACID
NONSENSE
MUTATION
GIVE RISE TO A
STOP CODON
FRAMESHIFT MUTATION
INSERTION DELETION

43. THANK YOU
FOR
LISTENING!