1. Genetic Disease

2. What is a mutation?
A change in the sequence of nucleotides of the DNA.
Remember: nucleotides are the smaller building blocks of DNA. There are four varieties of nucleotides. A, T , G , C. We call these different letters bases

3. What happens when a mutation occurs?
Nothing. It can occur in the area between genes. Remember genes are only the special sections that code for proteins.
Disease
Death

4. Types of Mutations Mistake (A is there instead of G)
Deletion (a piece is missing)
Insertion ( there is extra DNA where there shouldn’t be!)

5. Big Mistakes!!
Change in chromosome number: If there is an EXTRA chromosome, or a MISSING chromosome that is bad news!!!
Ex: Down syndrome
Extra 21st chromosome = 47 total

6. Kleinfelter Syndrome Kleinfelter syndrome: Extra X in Males (XXY)
Tall, looks “normal”, sterile, may have more feminine body shape, breast development

7. Jacobs Syndrome Jacobs Syndrome Extra Y in Males (XYY)
Low mental ability, “Normal” appearance

8. Turner Syndrome
Single X Female,
infertile

9. Genetic Counselors
Discuss with expecting parents any genetic disorder that may effect their child
How can they get that information from an unborn child?

10. Amniocentesis
Needle is used to take fluid from around the baby & the DNA is examined.

11. How is the DNA examined?
Karyotype: a picture of a person's chromosomes that is taken under a microscope. Photoshop is used to arrange the chromosomes in pairs and the 23 pairs are placed in order.