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Mutations PowerPoint Presentation

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Description : Check out this medical presentation on Genetics, which is titled "Mutations", to learn about Mutations, changes in the nucleotide sequence of DNA.

Tags : Genetics, Mutations, nucleotide sequence, DNA

Published on : Aug 29, 2021 | Views : 2053 | Downloads : 0

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Slide 1-

Warm Up 1. Place DNA Extraction lab into the basket located at the front 2. Pick up your plicker card from me 3. In your warm up notebook, write down a few sentences answering the following prompt: If you could have the powers of one animal, what would it be and why?
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Mutations
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What Are Mutations? Changes in the nucleotide sequence of DNA May occur in somatic cells (aren’t passed to offspring) May occur in gametes (eggs & sperm) and be passed to offspring
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Are Mutations Helpful or Harmful? Mutations happen regularly Almost all mutations are neutral Chemicals & UV radiation cause mutations Many mutations are repaired by enzymes
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Are Mutations Helpful or Harmful? Some type of skin cancers and leukemia result from somatic mutations Some mutations may improve an organism’s survival (beneficial)
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Quick Review: What is a chromosome? A chromosome is a DNA molecule that is tightly coiled around proteins called histones, which support its structure, to form a thread-like structures.
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Types of Mutations
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Chromosome Mutations May Involve: Changing the structure of a chromosome The loss or gain of part of a chromosome
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Chromosome Mutations Five types exist: Deletion Inversion Translocation Nondisjunction Duplication
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Deletion Due to breakage A piece of a chromosome is lost
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Inversion Chromosome segment breaks off Segment flips around backwards Segment reattaches
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Duplication Occurs when a gene sequence is repeated
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Translocation Involves two chromosomes that are NOT homologous Part of one chromosome is transferred to another chromosome
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Translocation
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Nondisjunction Failure of chromosomes to separate during meiosis Causes gamete to have too many or too few chromosomes Disorders: Down Syndrome – three 21st chromosomes Turner Syndrome – single X chromosome Klinefelter’s Syndrome – XXY chromosomes
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Down Syndrome Down syndrome (DS or DNS), also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is typically associated with physical growth delays, characteristic facial features and mild to moderate intellectual disability.
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Turner Syndrome A condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop and heart defects.
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Klinefelter’s Syndrome A genetic disorder that affects males. Klinefelter’s syndrome occurs when a boy is born with one or more extra X chromosomes. Most males have one Y and one X chromosome. Having extra X chromosomes can cause a male to have some physical traits unusual for males such as weaker muscles, greater height, poor coordination, less body hair, and sterility
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Chromosome Mutation Animation
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Gene Mutations Change in the nucleotide sequence of a gene May only involve a single nucleotide May be due to copying errors, chemicals, viruses, etc.
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Types of Gene Mutations Include: Point Mutations Substitutions Insertions Deletions Frameshift
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Point Mutation Change of a single nucleotide Includes the deletion, insertion, or substitution of ONE nucleotide in a gene
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Point Mutation Sickle Cell disease is the result of one nucleotide substitution Occurs in the hemoglobin gene
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Frameshift Mutation Inserting or deleting one or more nucleotides Changes the “reading frame” like changing a sentence Proteins built incorrectly
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Frameshift Mutation Original: The fat cat ate the wee rat. Frame Shift (“a” added): The fat caa tet hew eer at.
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Amino Acid Sequence Changed
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Gene Mutation Animation
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Substitution Mutation A substitution is a mutation that exchanges one base for another (i.e., a change in a single "chemical letter" such as switching an A to a G)
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Insertion Mutation The addition of one or more nucleotide base pairs into a DNA sequence
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Deletion Mutation A part of a chromosome or a sequence of DNA is lost during DNA replication. Any number of nucleotides can be deleted, from a single base to an entire piece of chromosome
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Normal Male 34 2n = 46
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Normal Female 35 2n = 46
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Male, Trisomy 21 (Down’s) 36 2n = 47
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Female Down’s Syndrome 37 2n = 47
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Klinefelter’s Syndrome 38 2n = 47
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Turner’s Syndrome 39 2n = 45