1. AIM: How do mutations occur in DNA ?
DO NOW:
HW:
Quiz Tuesday!!
Castle learning: genetics 2 and 4

2. Mutation When you hear the word mutation what words do you think of?
Abnormal
A Change
Mutation
Alternation

3. Mutation:
Any change in the DNA sequence that also changes the protein it codes for.
Mutation

4. Mutations in DNA can happen through two causes
1.) Damage from environmental agents
Aka mutagenic agents
Examples
Ultra Violet Light
Toxic Chemicals
X-Rays

5. DNA Strands are copied during_____________ Mitosis
2.) Mistakes made in replication of DNA during cell division
DNA Strands are copied
during_____________
Mitosis
What could go wrong?

6. ATT GCC ACT GCC After Replication in nucleus
This single Base exchanged in the DNA is known as point mutation
What happens to the
protein?_____________________________
Forms with different amino acids

7. THE DOG BIT THE CAT THE DOB ITT HEC AT Deleted letter G
Added the letters A & Z
THE DOB ITT HEC ATA Z
Frame Shift Mutation
When one or more bases are deleted or inserted into the newly copied DNA strand

10. Aim: How do genetic disorders occur?
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Complete Quiz

11. Genetic Disorder
is a disease that is caused by an abnormality in an individual's DNA (mutations).
Abnormalities can range from a small mutation in a single gene to the addition or subtraction of an entire chromosome or set of chromosomes.

12. Classification of genetic disorders
Gene Mutations
Level 1
These disorders result when a mutation causes the protein product of a single gene to be altered or missing
Examples: Galactosemia and Cystic Fibrosis

13. Galactosemia is a rare disorder that affects the body's ability to break down a food sugar called galactose (found in milk and other dairy products).

14. Chromosome mutations Level 2
In these disorders, entire chromosomes, or large segments of them, are missing, duplicated, or otherwise altered
Examples:
Sickle Cell Anemia,
Turner’s syndrome,
Huntington’sDisease,
PKU,
Down’s syndrome,
Klinefelter’s syndrome

15. Chromosomal Mutations
1.) Gene duplications leading to multiple copies of same gene located within the chromosome.
2.) Deletions of large chromosomal regions, leading to loss of the genes
3.) Chromosomal inversions: reversing the orientation of a chromosomal segment.
Gene P Gene Q
Gene Q
Gene P

16. 4.) Chromosomal translocations: interchange of genetic parts from non-homologous chromosomes.

17. Down Syndrome
Down syndrome is a developmental disorder caused by an extra copy of chromosome 21 called "trisomy 21".
Having an extra copy of this chromosome means that each gene may be producing more protein product than normal.
downs animation

18. Turner Syndrome
is caused by a missing or incomplete X chromosome. People who have Turner syndrome develop as females.
The genes affected are involved in growth and sexual development, which is why girls with the disorder are shorter than normal, inability to produce egg cells and have abnormal sexual characteristics.

19. is a disorder that affects only males have an extra X chromosome (XXY)
Klinefelter syndrome
is a disorder that affects only males
have an extra X chromosome (XXY)
giving them a total of 47 instead of the normal 46 chromosomes.

20. affects the way the body breaks down protein
PKU Phenylketonuria
affects the way the body breaks down protein
If not treated shortly after birth,
PKU can be destructive to the nervous system, causing mental retardation
PKU is caused by a mutation in a gene on chromosome 12

21. HD is caused by a mutation in a gene on chromosome 4.
Williams syndrome
affects a child's growth, physical appearance, and cognitive development.
People who have Williams syndrome are missing genetic material from chromosome 7, including the gene elastin.
Huntington’s disease
destroys cells in part of the brain that controls movement, emotion, and cognitive ability.
HD is caused by a mutation in a gene on chromosome 4.

22. Multifactorial Level 3 Examples: Colon, Breast, Ovarian Cancers,
Disorders that result from mutations in multiple genes, often coupled with environmental causes.
Examples: Colon, Breast, Ovarian Cancers,
Hypothryoidism, Alzheimer’s

23. Six-Legged Boy suffering from Polymelia

24. Polymelia
The disorder occurs in the womb when the cells form abnormally during embryonic development and the embryo begins to develop as conjoined twins, but later stops developing and leaves remaining developments of the disintegrated fetus attached to the body of the other.   
The extra limbs and legs were the result of a genetic disease which would affect only one in a million or more babies.

25. Polymelia
Doctors had to first examine MRI, blood tests and CT scan reports to determine which of the legs belonged the boy and which to his parasitic twin before the operation

26. After Surgery