1. Disorders are caused by changes in DNA aka mutations

2. Karyotype: A picture of all the chromosomes in one cell Used to analyze genetic disorders

3. Karyotypes Male What is the difference? What are the numbers for?

4. Down Syndrome Trisomy 21 (three copies of chromosome 21) Characterostics include learning difficulties, mental deficit, & a characteristic facial appearance Heart defects

5. Sex Chromosome Disorders Turners Syndrome (females) 45, X -symptoms: shorter than average, usually infertile, An especially wide neck (webbed neck) and a low or indistinct hairline Klinefelters syndromes (males) 47, XXY -symptoms include tall stature, and abnormal body proportions, may be infertile, have feminine features and less developed male features

6. Klinefelters vs Turners

7. Cystic Fibrosis Most common fatal genetic disorder in US – 30,000 CF produces thick mucous that clogs the lungs, leads to infection, and blocks the pancreas, which stops digestive enzymes Caused by a mutation in a single gene

8. Sickle Cell Anemia Inherited blood disorder About 80000 affected in America More prevalent in African Americans Causes blood cells to be sickle shaped due to abnormal hemoglobin protein Blood cannot carry _____________________efficiently

9. Hemophilia Bleeding disorder ; individuals do not have clotting facto and can bleed profusely from small injuries or bruises X linked trait Treatment includes clotting factor, physical therapy and even ice packs Affected the Royal Family

10. Genetic Engineering Manipulating or changing the DNA of an organism Often done with plants to create genetically modified (GMO) food that is resistant to pesticide Useful applications in medicine – creating insulin textile industry – fiber production

11. Manipulating DNA DNA can be cut at certain place using restriction enzymes DNA can be combined with other DNA to from recombinant DNA PCR (polymerase chain reaction) copies DNA quickly

12. Manipulating DNA Genes such as insulin can be taken from a normal human cell and inserted into a bacterial cell. The bacteria can then produce insulin. Transgenic organisms

13. Manipulating DNA Agriculture - such as larger sheep that grow more wool Medicine - such as cows that produce insulin in their milk Industry - such as goats that produce spider silk for materials production “Designer Babies” scientists can now manipulate the sex of a baby as well as eye color

14. DNA Fingerprinting Analyzes and identifies a person based on small differences in DNA Uses Gel Electrophoresis to analyze bands of DNA http://www.shsu.edu/~chm_tgc/sounds/pushmovies/ GE.gif http://www.shsu.edu/~chm_tgc/sounds/pushmovies/ GE.gif Used in CSI and Paternity tests Who is the father?