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Get out spiral Grab Mutations Worksheet Turn to Page: 72 Title it: Chromosome Mutations

Title yesterday’s Notes: Gene Mutations. Get out spiral Grab Mutations Worksheet Turn to Page: 72 Title it: Chromosome Mutations Critical Question: What is the difference between gene mutations and chromosome mutations?. Chromosome vs. Gene.

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Get out spiral Grab Mutations Worksheet Turn to Page: 72 Title it: Chromosome Mutations

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  1. Title yesterday’s Notes: Gene Mutations Get out spiral Grab Mutations Worksheet Turn to Page: 72 Title it: Chromosome Mutations Critical Question: What is the difference between gene mutations and chromosome mutations?

  2. Chromosome vs. Gene • A Gene is section of DNA which can code for a single protein • A Chromosome is a entire strand of DNA coiled and condensed.

  3. Humans usually have 23 pairs of chromosomes, 46 total. • They are numbered 1-22 with the 23rd pair being the sex chromosome, XX in girls or XY in boys.

  4. Karyotype

  5. Scientists use Karyotypes to look for mutations. • Karyotype • A tool used to show the number and visual appearance of the chromosomes in an organism’s nucleus This is a normal karyotype of human chromosomes. A karyotype is a picture of chromosomes lined up to look at and compare.

  6. 2 Main Types of Mutations 1.) Chromosomal Mutations 2.) Gene Mutations (What we did yesterday)

  7. Chromosomal Mutations Chromosomes are your DNA!!! • Any change involving long segments of DNA (thousands of nucleotides are changed)

  8. 46 46 46 46 46 46 46 46 46 46 23 23 46 23 23 How do these mutations occur? During Meiosis Sometimes mutations can occur here!! gametes meiosis  fertilization  mitosis + development Mom meiosis egg Dad zygote mitosis &development fertilization mitosis sperm

  9. Types Chromosomal Mutations • Duplication • Inversion • Translocation • Non Disjunction

  10. Chromosomal Duplication A segment of genes is copied twice and added to the chromosome (remember each letter is representing thousands of bases) Causes: Charcot–Marie–Tooth disease (high arched foot, claw feet, confined to a wheelchair)

  11. Chromosomal Inversion a segment of genes flip end-to-end on the chromosome Causes: Four-Ring Syndrome (cleft pallate, club feet, testes don’t descend)

  12. Chromosomal Translocation Material is swapped with another chromosome Causes: Promyelocytic Leukemia (translocation of chromosomes 15 and 17)

  13. Nondisjunction • the failure of one or more pairs of chromosomes to separate normally during cell division • Produces gametes (sperm and egg) (and therefore a baby) with one missing chromosome or one extra chromosome

  14. Down Syndrome • Cause: Nondisjunction of chromosome 21 • Three copies of chromosome 21 = “TRISOMY 21”

  15. Chromosomal Mutations • Most chromosomal mutations are lethal • If the fetus survives: Tend to cause wide-spread abnormalities • Example: Down Syndrome

  16. Critical Question: What is the difference between gene mutations and chromosome mutations?

  17. Using todayand yesterday’s notes, complete the flow chart

  18. Trisomy 21 - Down Syndrome

  19. Mutation Practice Normal Chromosome A B C D E F G H A B C F E D G H Mutated Chromosome Inversion

  20. Mutation Practice Normal Chromosome A B C D E F G H A B C C D D E F G H Mutated Chromosome Duplication

  21. Mutation Practice Normal Chromosome A B C D E F G HJ K L M N O P Q A B C D J K L M Mutated ChromosomeN O P Q E F G H Translocation

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