1. Introduction to Genetic Disorders Project Background Information

2. The function of genes Proteins help To control the production of proteins in the organism's cells. Determine the size, shape, and many other traits of organisms

3. The 4 different bases of DNA Adenine - (A) Thymine - (T) Guanine - (G) Cytosine - (C)

4. A single gene can contain The order of the nitrogen bases Several hundred to a million or more bases Along a gene forms a genetic code that specifies what type of protein will be produced.

5. A mutation is NOT

6. A mutation is NOT

7. A mutation is Any change in a gene or chromosome

8. Causes for a mutation The Substitution of a single base for another When chromosomes don't separate correctly during meiosis

9. If a mutation happens in a body cell, it will only affect If a mutation happens in a sex cell, it can be The cells that carries it (only that person) Passed on to an offspring and affect the offspring phenotype

10. Some mutations are harmful, some are helpful some are neither ____________ nor ___________ Helpful harmful

11. Examples of mutations: Skin cancer: Caused by Bacteria: bacteria is able to build up a resistance to antibiotics (resistance is a mutation to help it survive) Over exposure to the ultraviolet radiation in sunlight

12. Human Inheritance ______________ determines if a person is male or female. What are the two chromosomes for a female? What are the two chromosomes for a male? Chromosomes

13. the egg in a female only carries the ____ chromosome. The sperm in the male can carry the ______ or _____ chromosome. X YX

14. Looking at the Punnet Square, what is the probability that the couple will have a boy? A girl? XY X X XXXY XXXY 50/50

15. Human Genetic Disorders A genetic disorder is Genetic disorders are caused by Abnormal condition that a person inherits through genes or chromosomes Mutations or changes in a person's DNA

16. Cystic Fibrosis Sickle-Cell Hemophilia Down Syndrome Achondroplasia Alpha-1 Antitrypsin Deficiency (AATD) Charcot-Marie-Tooth Duane Syndrome Familial Hypercholesterolemia Fragile X Syndrome Gaucher Disease Hemochromatosis Huntington’s DiseaseKlinefelter Syndrome Marfan SyndromeNoonan Syndrome Osteogenisis Imperfecta Phenylketonuria Porphyria Progeria Turner SyndromeWAGR Syndrome Wilson Disease

17. What Questions do you Expect to Answer Through Research?

18. Types of Websites to Avoid  Sites that are too difficult to understand  Wikipedia – although much of the information is now considered to be accurate, it is a site that can be edited by anyone.

19. To begin: go to www.genome.gov/10001204