1. Mutations and DNA Technology

2. What is a mutation? A mutation is a change in DNA
Two types of mutations are gene mutations and chromosome mutations.

3. Gene mutations
A POINT MUTATION is a mutation that affects one nucleotide or one base.
Sometimes your cell catches it when proofreading.
What will happen?
The wrong amino acid may be put into place.
Example: sickle cell anemia
YOU ARE FAT >>>> YOU ARE CAT
ATA TAG CCA >>>>> AAA TAG CCA

4. A FRAMESHIFT mutation involves the insertion or deletion of a nucleotide or base.
This causes a shift in the whole sequence.
This usually causes something bad to happen.
THE CAT ATE THE RAT. >>
THC ATA TET HER AT
ATT CCA TAG >>>> ATC CAT AG
Every amino acid put in will be wrong.

5. Chromosomal mutations
Occurs during meiosis.
The resulting gamete will have the wrong number of chromosomes.
These tend to increase as parents get older.

6. Down Syndrome

7. Turner syndrome

8. There is only one X chromosome on the 23rd pair.
This is a female. (1/2500)
She is underdeveloped.
She is short . 4’7”
May have webbed neck, low hairline on back of head, drooping eyelids, lower set ears, edema of hands and feet.
Usually sterile.

9. What about a person with only one Y chromosome? (lacks an X)
He will not live. Why?

10. Klinefelters

11. Male
1/500-1/1000 males
Tall
Reduced fertility
Less muscle control and coordination
Less facial hair and broader hips
Language and reading difficulty

13. XYY syndrome Tall male May not have any phenotypic differences
Was associated with criminal or antisocial behavior.

14. Trisomy Can be any chromosome.
Usually cause extreme effects in people and animals.
Plants survive.

15. Are all mutations bad? Some are bad. Some are harmless
Some may actually be beneficial.

16. Mutations in body cells affect the organism.
Mutations in gametes affect the offspring.

17. Mutagens A mutagen is something that causes a mutation.
Industrial chemicals
UV light
Any radiation
Drugs
Chemicals

18. Genetic engineering

19. DNA fingerprinting Every person has their own unique DNA fingerprint.
Can be used for identification.
Can be used to establish paternity.
Study human migration.

21. Cloning Genetically identical copy of an organism.
Can be done easily with plants. (Also occurs naturally.)
Can be done with animals.
Should it be done with people.

23. the boys from brazil - rabbit cloning – YouTube
GCSE Science Revision - Cloning Dolly The Sheep - YouTube

24. Genetic engineering
Taking DNA from one organism and inserting it into the DNA of another organisms. This is called recombinant DNA.
The new organism is a transgenic organism.
We do this to make insulin.
We take an insulin gene from a person and put it into the DNA of a bacteria. What do we get? Bacteria that produce insulin.

25. We have created plants that are resistant to frost, diseases and insects.
We can increase crop yields.
We have developed animals for research.

26. Human genome project Sequence the human genome.
Find all of the genes on all of the chromosomes.

31. Gene therapy Repair defective genes. Still very experimental.
Should we do it?