1. Genetic Disorders & Mutations
Mrs. Harper
Biology
2/26/18

2. December 7, 2015 Download notes Begin working on Do Now
UNIT 4 TEST IS THURSDAY!!!

3. Do Now 12/7/15
1. How did you feel you did on your quiz? What grade did you hope to achieve? 2. What is the central dogma of biology? 3. Review: What is a mutation? 4. What are the three point mutations? 5. What are the four chromosomal mutations? 6. What is nondisjunction? 7. What is a somatic mutation? 8. What is a germ mutation?

4. Causes of Genetic Mutations
Random events
Mutations are spontaneous, they mostly happen by accident
Environment Factors
Exposure to specific chemicals/radiation

5. Effects of Having Genetic Disorders
Health problems and shorter life span
Frequent medical attention
Discrimination/ Social Stigma due to abnormalities

6. Nondisjunction
Nondisjunction is the failure of homologous chromosomes to separate properly during meiosis I, meiosis II or mitosis.
Results in daughter cells having abnormal chromosome numbers.

7. Examples of Nondisjunction
1. Down Syndrome (Trisomy 21)- extra chromosome on the 21st pair 2. Turner Syndrome- loss of an entire X chromosome 3. Klinefelter Syndrome- adds an extra X chromosome to a male (XXY)

8. Types of Mutations
Somatic mutations- occur in body cells, are NOT passed onto offspring
Example: Cancer
Germ mutations- occurs in sex cells (gametes), they CAN be passed onto offspring
Example: Colorblindness, Hemophilia

9. Karyotypes
Illustration of all the chromosomes inside a person’s cells.
Used to identify and diagnose genetic
disorders

10. EOC Practice
-Extra chromosomes is due to a failure to separate during mitosis.
-Which mutation is this?

11. EOC Practice
-The bottom part of the chromosome is missing on the mutated chromosome.
-Which mutation is this?

12. EOC Practice -Chromosome 21 has three instead of 2 chromosomes
-This is Down’s Syndrome, which is which type of mutation?

13. Assignment
Use the information given on genetic disorders to complete the chart.
UNIT 4 TEST IS THURSDAY!!!
Cri du chat syndrome
Infants cry
like a cat
Chromosome 5
Deletion/Deficiency