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Mutations & Genetic Engineering
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A change in the nucleotide sequence of the genome of an organism
Mutation A change in the nucleotide sequence of the genome of an organism
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A mutation that changes one base
Substitution A mutation that changes one base Possible outcomes: New codon codes for the same amino acid – silent New codon changes the amino acid – missense Sickle cell anemia New codon codes for a stop codon – non sense
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Frameshift Mutations A change in the reading pattern of the DNA
Causes: Deletions Sections of DNA are missing Cystic Fibrous Tay Sacs Insertions Mutations in which an extra base is inserted Crohn’s disease
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Chromosomal Mutations
Involves changes in the number or structure of chromosomes Deletion- loss of all or part Example: Williams Syndrome Duplication – segment is repeated Huntington’s disease Inversion – orientation is in the reverse direction Translocation – two non homologous chromosomes exchange segments The most common mutation, ΔF508, is a deletion (Δ signifying deletion) of three nucleotides[39] that results in a loss of the amino acid phenylalanine (F) at the 508th position on the protein. The HTT mutation that causes Huntington disease involves a DNA segment known as a CAG trinucleotide repeat. Normally, the CAG segment is repeated 10 to 35 times within the gene. In people with Huntington disease, the CAG segment is repeated 36 to more than 120 times. This altered form, called mHtt (mutant Htt), increases the decay rate of certain types of neurons. Regions of the brain have differing amounts and reliance on these type of neurons, and are affected accordingly.[7] Generally, the number of CAG repeats is related to how much this process is affected, and accounts for about 60% of the variation of the age of the onset of symptoms.
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Manipulating an organism’s genome using biotechnology
Genetic Engineering Manipulating an organism’s genome using biotechnology
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Transgenic Organisms Organisms with altered genomes through biotechnology Microorganisms Insulin production Clotting Factors Plants (Genetically Modified Organisms or GMOs) Insect resistant Weather Resistant Animals Agriculture Medicine Commercial Fastfoward video to 5:15 or so….it will progress to the continuation of the video-watch until about 7 minutes in on the second video
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Making an exact genetic copy of an organism
Cloning Making an exact genetic copy of an organism Why clone? Medical purposes Reviving extinct or endangered organisms Pet trade Under “Organism” is a link to clone a mouse Video link on pet trade at 24:12- 40:45 this will cover 1, 2, & 3 on this slide.
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Cells that can divide and differentiate into diverse specialized cells
Stem Cells Cells that can divide and differentiate into diverse specialized cells Why study stem cells? They are unspecialized & can reproduce (mitosis) 2. They can be induced to become specific cells with specific functions. Great info: Link to new stem cell developments Two types: Embryonic Adult
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Clustered Regularly Interspaced Short Palindromic Repeats
CRISPR Clustered Regularly Interspaced Short Palindromic Repeats Gene editing mechanism Idea from how bacteria fight viral infections Three Part System: Cas9 enzyme – molecular scissors RNA sequence – directs enzyme to specific sequence to cut New DNA sequence to insert is introduced After cut, the cell frantically tries to repair DNA so giving it the instructions to change is easy
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CRISPR Benefits Disadvantages Already been done:
Technology – cheap & user friendly Cure disease Study genome (98% non protein coding) Disadvantages Designer babies? Already been done: Monkeys with mutations to prevent HIV Child cured of leukemia Malaria resistant mosquitos
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DNA Fingerprinting A method of isolating and making images of a person’s unique DNA sequence Process: Gel Electrophoresis with help from restriction enzymes Restriction enzymes cut DNA at certain base sequences…..everyone (except identical twins) will have different size segments We use “junk” DNA – the part of our sequences that are different Gel Electrophoresis link to DNA fingerprinting interactive
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DNA Fingerprints 1st – identical vs fraternal twins
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