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Introduction to Genetic Disorders Project

Introduction to Genetic Disorders Project. Background Information. The function of genes. To control the production of proteins in the organism's cells. Proteins help. Determine the size, shape, and many other traits of organisms. The 4 different bases of DNA.

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Introduction to Genetic Disorders Project

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  1. Introduction to Genetic DisordersProject Background Information

  2. The function of genes To control the production of proteins in the organism's cells. Proteins help 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 Several hundred to a million or more bases The order of the nitrogen 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 The cells that carries it (only that person) If a mutation happens in a sex cell, it can be 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 Over exposure to the ultraviolet radiation in sunlight Bacteria: bacteria is able to build up a resistance to antibiotics (resistance is a mutation to help it survive)

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

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

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

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

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

  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 towww.genome.gov/10001204

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