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CHANGES IN THE GENETIC CODE. Ectrodactyly. What do they all have in common? They’re all mutations!. MUTATIONS. a change in the DNA code causes a different (sometimes wrong) type of protein to be made may or may not be good for the organism. ALONG THE WAY. good changes occur
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What do they all have in common? • They’re all mutations!
MUTATIONS • a change in the DNA code • causes a different (sometimes wrong) type of protein to be made • may or may not be good for the organism
ALONG THE WAY • good changes occur • bad changes occur • changes that don’t matter either way
CHANGE IS NECESSARY • without changes we would all look alike • without changes we would not evolve • without changes we would not develop immunities to disease • SO… Is change/variation a good thing??? • YES!
Causes of Variation • Crossing Over • Mutations • Some happen randomly • Some caused by Mutagens (agents that cause mutations) • Nuclear Radiation • Ultraviolet Light • X Rays • http://learn.genetics.utah.edu/units/disorders/sloozeworm/mutationbg.cfm
CROSSING OVER • occurs when homologous chromosomes trade segments • occurs during Prophase I of Meiosis
entire gene is switched • involves the variation of a single trait • gene for big ears exchanges with gene for small ears
Advantages • variation of offspring from parents • allows for “good” changes • Better chance of passing on genes for survival
3 TYPES OF MUTATIONS • Chromosomal mutations • Gene mutations • Somatic mutations • these usually occur during mitosis and involve a chromosomal mutation • involved with body cells, not sex cells • tumors are the result
Research your mutation • 1. Answer these questions • What does the name of the mutation mean? • What happens to the chromosome? • What is an example?
CHROMOSOMAL MUTATIONS • NONDISJUNCTION • DELETION • INVERSION • DUPLICATION • TRANSLOCATION • INSERTION
NONDISJUNCTION • failure of homologous pairs to separate during meiosis • correct number of chromosomes are not present in the gamete • after fertilization, diploid number is not restored
Examples • Trisomy 21(Down Syndrome)- 3 copies of chromosome 21 • Klinefelters Syndrome- XXY • Turner Syndrome- X • “Supermales” - XYY
DELETION A SEGMENT OF A CHROMOSOME IS DELETED
Examples • Cri-du-chat syndrome- “cry of the cat”- deletion of piece of chromosome #5 • Angelman Syndrome- deletion of piece of chromosome #15 • Prader-Willi Syndrome- deletion of piece of chromosome #15
INVERSION A SEGMENT OF THE CHROMOSOME IS FLIPPED IN THE OPPOSITE DIRECTION
DUPLICATION A SEGMENT OF THE CHROMOSOME IS COPIED TWICE
TRANSLOCATION SEGMENTS FROM TWO DIFFERENT CHROMOSOMES ARE SWITCHED
Example • Translocation Down Syndrome • Instead of being 3 separate copies of chromosome 21, the extra copy is actually attached to another chromosome
INSERTION A SEGMENT OF ONE CHROMOSOME IS INSERTED INTO A DIFFERENT CHROMOSOME
GENE MUTATIONS • POINT MUTATIONS • FRAME SHIFT • insertions • deletions • INVERSIONS
LETS MUTATE! • Start with an original strand of DNA GCC TTA CGT TTA CGA CTG TAC GTA CGG AATGCAAATGCT GAC ATG CAT A B C D • lets assume this strand codes for a protein AMINO ACIDS
POINT MUTATIONS TTA CGT TTA CGA AAT GCA AAT GCT ORIGINAL 1 base is replaced with another base TTA CTT TTA CGA AAT GAA AAT GCT MUTATION B E
Example • Sickle Cell Anemia- changing 1 base causes mutation that codes for valine instead of glutamate in the protein hemoglobin • Individuals produce different type of hemoglobin • Red Blood Cells become sickle shaped and don’t pass thru blood vessels as easily • Cells die sooner than normal • Individuals don’t get as much oxygen
http://www.montgomerycollege.edu/~wolexik/Sickle%20Cell%20Anemia%20400x.jpghttp://www.montgomerycollege.edu/~wolexik/Sickle%20Cell%20Anemia%20400x.jpg
FRAME SHIFTS TTA CGT TTA CGA AATGCAAATGCT ORIGINAL A B C D TTA CGT TTA ACG A AATGCAAATTGC T INSERTION-base is inserted A B C F TTA CGT TAC GA AATGCAATG CT DELETION- base is deleted A B G
INVERSIONS TTA CGT TTA CGA AATGCAAATGCT ORIGINAL A B C D Codon is found in reverse order TTA TGC TTA CGA AATACGAATGCT INVERSION A H C D
Consequences • Sometimes mutations are bad and cause for different proteins to be made • But- if you look at the amino acid chart- several different codons code for the same amino acids • Mutations can occur but wouldn’t be noticed • Some mutations are masked by other genes