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AIM: How do mutations occur in DNA ?

AIM: How do mutations occur in DNA ?. DO NOW:. HW: Quiz Tuesday!! Castle learning: genetics 2 and 4. When you hear the word mutation what words do you think of?. Abnormal. A Change. Mutation. Alternation. Mutation :.

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AIM: How do mutations occur in DNA ?

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  1. AIM: How do mutations occur in DNA ? DO NOW: HW: Quiz Tuesday!! Castle learning: genetics 2 and 4

  2. When you hear the word mutation what words do you think of? Abnormal A Change Mutation Alternation

  3. Mutation: Any change in the DNA sequence that also changes the protein it codes for. Mutation

  4. Mutations in DNA can happen through two causes 1.) Damage from environmental agents Aka mutagenic agents Examples Ultra Violet Light Toxic Chemicals X-Rays

  5. 2.) Mistakes made in replication of DNA during cell division DNA Strands are copied during_____________ Mitosis What could go wrong?

  6. ATT GCC After Replication in nucleus ACT GCC This single Base exchanged in the DNA is known as point mutation What happens to the protein?_____________________________ Forms with different amino acids

  7. THE DOG BIT THE CAT Deleted letter G THE DOB ITT HEC AT Added the letters A & Z THE DOB ITT HEC ATA Z Frame Shift Mutation When one or more bases are deleted or inserted into the newly copied DNA strand

  8. Aim: How do genetic disorders occur? Do now: Complete Quiz

  9. Genetic Disorder is a disease that is caused by an abnormality in an individual's DNA (mutations). Abnormalities can range from a small mutation in a single gene to the addition or subtraction of an entire chromosomeorset of chromosomes.

  10. Classification of genetic disorders Gene Mutations Level 1 These disorders result when a mutation causes the protein product of a single geneto be altered or missing Examples: Galactosemia and Cystic Fibrosis

  11. Galactosemia is a rare disorder that affects the body's ability to break down a food sugar called galactose (found in milk and other dairy products).

  12. Chromosome mutations Level 2 In these disorders, entire chromosomes, or large segments of them, are missing, duplicated, or otherwise altered • Examples: • Sickle Cell Anemia, • Turner’s syndrome, • Huntington’sDisease, • PKU, • Down’s syndrome, • Klinefelter’s syndrome

  13. Chromosomal Mutations 1.) Gene duplications leading to multiple copies of same gene located within the chromosome. 2.) Deletions of large chromosomal regions, leading to loss of the genes 3.) Chromosomal inversions: reversing the orientation of a chromosomal segment. Gene P Gene Q Gene Q Gene P

  14. 4.) Chromosomal translocations: interchange of genetic parts from non-homologous chromosomes.

  15. Down Syndrome Down syndrome is a developmental disorder caused by an extra copy of chromosome 21 called "trisomy 21". Having an extra copy of this chromosome means that each gene may be producing more protein product than normal. downs animation

  16. Turner Syndrome is caused by a missing or incomplete X chromosome. People who have Turner syndrome develop as females. The genes affected are involved in growth and sexual development, which is why girls with the disorder are shorter than normal, inability to produce egg cells and have abnormal sexual characteristics.

  17. Klinefelter syndrome is a disorder that affects only males have an extra X chromosome (XXY) giving them a total of 47 instead of the normal 46 chromosomes.

  18. PKU Phenylketonuria affects the way the body breaks down protein If not treated shortly after birth, PKU can be destructive to the nervoussystem, causing mental retardation PKU is caused by a mutation in a gene on chromosome 12

  19. Williams syndrome affects a child's growth, physical appearance, and cognitive development. People who have Williams syndrome are missing genetic material from chromosome 7, including the gene elastin. Huntington’s disease destroys cells in part of the brain that controls movement, emotion, and cognitive ability. HD is caused by a mutation in a gene on chromosome 4.

  20. Multifactorial Level 3 Disorders that result from mutations in multiple genes, often coupled with environmental causes. Examples: Colon, Breast, Ovarian Cancers, Hypothryoidism, Alzheimer’s

  21. Six-Legged Boy suffering from Polymelia

  22. Polymelia • The disorder occurs in the womb when the cells form abnormally during embryonic development and the embryo begins to develop as conjoined twins, but later stops developing and leaves remaining developments of the disintegrated fetus attached to the body of the other.    • The extra limbs and legs were the result of a genetic disease which would affect only one in a million or more babies.

  23. Polymelia • Doctors had to first examine MRI, blood tests and CT scan reports to determine which of the legs belonged the boy and which to his parasitic twin before the operation

  24. After Surgery

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