1. Mutations

2. Quick Write
In your own words write down in complete sentences describing what a mutation is and give an example. Can they be helpful, harmful, or both.

3. -Alternations during replication. o Insertions o Deletions
SB2. Students will analyze how biological traits are passed on to successive generations.
d. Describe the relationships between changes in DNA and potential appearance of new traits including
-Alternations during replication.
o Insertions
o Deletions
o Substitutions
-Mutagenic factors that can alter DNA.
-High energy radiation (x-rays and ultraviolet)
-Chemical

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. Are Mutations Helpful or Harmful?
Mutations happen regularly
Almost all mutations are neutral
Chemicals & UV radiation cause mutations
Many mutations are repaired by enzymes

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 Mutations

8. Chromosome Mutations May Involve:
Changing the structure of a chromosome
The loss or gain of part of a chromosome

9. Chromosome Mutations Five types exist: Deletion Inversion
Translocation
Nondisjunction
Duplication

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

11. Inversion Chromosome segment breaks off Segment flips around backwards
Segment reattaches

12. Duplication
Occurs when a gene sequence is repeated

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

14. Translocation

15. Nondisjunction Failure of chromosomes to separate during meiosis
Causes gamete to have too many or too few chromosomes
Disorders:
Down Syndrome – three 21st chromosomes
Turner Syndrome – single X chromosome
Klinefelter’s Syndrome – XXY chromosomes

17. Chromosome Mutation Animation

19. 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.

20. Types of Gene Mutations
Include:
Point Mutations
Substitutions
Insertions
Deletions
Frameshift

21. Point Mutation Change of a single nucleotide
Includes the deletion, insertion, or substitution of ONE nucleotide in a gene

22. Point Mutation
Sickle Cell disease is the result of one nucleotide substitution
Occurs in the hemoglobin gene

23. Frameshift Mutation Inserting or deleting one or more nucleotides
Changes the “reading frame” like changing a sentence
Proteins built incorrectly

24. Frameshift Mutation Original: The fat cat ate the wee rat.
Frame Shift (“a” added):
The fat caa tet hew eer at.

25. Amino Acid Sequence Changed

26. Gene Mutation Animation

27. FYI

28. Normal Male
2n = 46

29. Normal Female
2n = 46

30. Male, Trisomy 21 (Down’s)
2n = 47

31. Female Down’s Syndrome

32. Klinefelter’s Syndrome

33. Turner’s Syndrome
2n = 45