1. Mutations Announcement Quiz over Mutations on Monday!
Test Wednesday!!! All genetics lessons

2. Any _________in DNA is a ________.
I. Mutations
Any _________in DNA is a ________.
Most mistakes/changes happen during…
_______________(during mitosis OR meiosis)
_______________
_______________ (nondisjunction)
These occur _________or can be caused by the _____________, called mutagenic factors, like…
______________(UV, X-Ray, Gamma Ray)
_______________(Tobacco use, pollution)

3. II. Mutations in Reproductive (Sex) Cells VS. Body cells
-Mutations in ___________(a.k.a. gametes) can be _______________to a person’s children, but might not affect the parent
-Mutations in _____________cannot be _____________to your children, however, they can cause cancer or other problems

4. II. Mutations in sex cells
-X-men and X-women would be a result of mutations in sex cells.
These people inherited mutated (changed) DNA from their parents:

5. III. Cancer as a result of mutations in body cells:

6. III. Cancer as a result of mutations in body cells:
___________________environmental/chemical factors that cause cancer
Tongue cancer and lung cancer are often caused by changes in body cells as a result of smoking, so don’t smoke!!!

7. Radiation- Think Spider-Man!!!

8. Gene mutations There are two types of gene mutations:
_________________

9. Example: DNA  RNA  Amino Acid
IV. Point mutation
Also called a _________________
a _______________of ______________in a DNA sequence.
can cause an _______________to change, which then _____________________being made.
Example: DNA  RNA  Amino Acid
TAC  AUG Met
TTC  AAG Lys
-Only one letter was SUBSTITUTED (the A to a T) and the entire amino acid changed (from methionine to lysine).

10. IV. Point mutation Normal Point mutation mRNA Protein Stop
Replace G with A
Point mutation
mRNA
Protein
Stop

11. Point mutations in our lives!
Sickle cell anemia is a blood disease caused by a ________________point mutation.
A single nucleotide is changed from “A” to “T” which causes the amino acid to change from glutamic acid to valine:
Amino acids: Thr – Pro – Glu – Glu
Normal: ACT CCT GAG GAG
Sickle cell: ACT CCT GTG GAG
Amino acids: Thr – Pro – Val – Glu

12. V. Frameshift mutation
A _______________mutation is when one nucleotide is ____________________from the DNA or mRNA strand.
Ex: DNA TACTTCAAACCGCGTAACATT
mRNA
Protein

13. Difference between a substitution mutation and a frameshift mutation.

14. Questions: Is this a substitution mutation or a frameshift mutation?
-It’s a ____________________mutation because G was __________________with a T!

15. Questions: THE DOG BIT THE CAT THE DOG BIT THE CAR
Substitution or frameshift?
____________________!

16. Questions THE DOG BIT THE CAT THE DOB ITT HEC AT
Substitution or frameshift?
________________! The mutated sentence makes _________(non-sense) and thus the protein will not be made

17. ATCGCGTATTCG ATCGGGTATTCG
What mutation is this??
ATCGCGTATTCG ATCGGGTATTCG

18. What mutation happened here??
ATCGCGTATTCG ATCGCTATTCG

19. What mutation happened here??
ATCGCGTATTCG ATCGCGTTATTCG

20. Chromosome Mutations There are two types of ______________mutations
_____________of chromosome mutated
_____________chromosome missing/ added

21. Partial chromosome mutations
4 major types
_______________

22. Partial Chromosome Mutations
_________________
Part of the chromosome ___________during __________________
The illustration on the right depicts a deletion of the tip of the p arm of chromosome 5

23. deletion of the tip chromosome 5.
causes a genetic condition called cri du chat syndrome(cry of the cat).
Approximately 1 infant in 50,000
Common findings in children with cri du chat include a cat-like meowing cry, mental retardation, hypotonia in infancy, microcephaly, and characteristic facial features 
Age 6
And
Age 16

24. Partial Chromosome Mutations
______________
___________of chromosome ___________, changes ___________and reattaches

25. Partial Chromosome Mutations
______________
A section of chromosome is ____________

26. Duplication of Chromosome mutation
Charcot–Marie–Tooth disease
 disorder of the peripheral nervous system characterised by progressive loss of muscle tissue and touch sensation across various parts of the body.
Currently incurable; affects approximately 1 in 2,500 people

27. Partial Chromosome Mutations
_________________
Piece of broken chromosome __________with a ____________chromosome

28. Translocation Chromosome mutation
 leukemia (acute myelogenous leukemia and chronic myelogenous leukemia)
Infertility: One of the would-be parents carries a balanced translocation, where the parent is asymptomatic but conceived fetuses are not viable.

29. Whole chromosome Mutations
______________
Chromosomes fail to ________correctly during ___________
Can result in ________ or _________________chromosomes
Examples: Down Syndrome, Turner syndrome

30. Turner Syndrome
Loss of an X chromosome
 Complications include: short stature, swelling, broad chest, low hairline, low-set ears, and webbed necks, nonworking ovaries,  congenital heart disease, hypothyroidism , diabetes
Down Syndrome
Additional 21 chromosome
Complications include:  physical growth delays, characteristic facial features, and mild to moderate intellectual disability. Max IQ of 8-9 year old.