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Genetic Mutations “The Tale of the Incorrect Code” What are Mutations? Mutations are mistakes in the DNA sequencing Can be acquired during an individuals life or passed from parent to child. Mistakes affect genetic information that is passed to offspring Some mistakes are so small they are never noticed, others cause severe problems o Remember: amino acids make up polypeptide chains. Polypeptide chains make up proteins. Proteins are a vital component of living materials and carry out vital cellular processes. Mutations During Mitosis MOST mutations occur when DNA is being copied Cells have processes to help it catch mistakes When mistakes aren’t repaired, it can lead to cellular malfunctions Affects the cell that produced the mistake Mistakes in somatic cells affect the individual ONLY Mutations During Meiosis Mutations can be passed on to offspring Becomes a part of the offspring’s DNA in almost every cell Can be passed on to the next generation External Causes of Mutations Mutagen: External things that can change DNA, such as radiation, xrays, or chemicals (tobacco, asbestos, benzene, etc.) Common result is cancer Ultraviolet radiation can “switch around” base pairs in DNA and cause skin cancer. Carcinogen: a mutagen that is directly involved in causing cancer Let’s Practice 1. Which of these would be LEAST likely to cause a gene mutation? A. Exposure to x-ray radiation B. Exposure to ultraviolet radiation C. Exposure to tobacco smoke D. Exposure to loud noises 2. A harmful chemical is inhaled into the lungs and causes a mutation in a lung cell. Which of the following is NOT likely to occur? A. The mutation results in lung cancer B. The mutation causes the lung cell to function improperly C. The mutation causes the lung cell to die D. The mutation is passed on to a son or daughter Examine the Effects of a Mutation Normal DNA: TAC ACA CGA RNA: __ __ __ __ __ __ __ __ __ PROTEIN: ____ ____ ____ Mutated DNA: TAC ACT CGA RNA: __ __ __ __ __ __ __ __ __ PROTEIN: ____ ____ ____ Did you get it? Types of mutations Gene Mutations: mutation that changes one gene Chromosomal Mutations: mutation caused when a chromosome or part of a chromosome is duplicated, deleted, or attached incorrectly Gene Mutations Point Mutation Frameshift Mutation Gene mutation that occurs if a nucleotide is added, deleted, or substituted in the nucleotide sequence Another name for when a single nucleotide is added or deleted Substitution Switch 1 nucleotide for another Addition/Deletion = Frameshift Addition: add a new nucleotide Deletion: remove a nucleotide Both result in a frame shift to the reading frame Common Inherited Gene Mutation Disorders Autosomal Recessive Disorders (defective gene from both parents) Sickle Cell Anemia: single substitution Tay-Sachs disease: Frameshift Cystic Fibrosis Sex-linked Disorders Red-Green Colorblindness Hemophilia Chromosomal Mutations The structure or numbers of chromosomes change. Structure changes if part of a chromosome is broken off or lost during mitosis or meiosis. Can pass on defective chromosomes, or can cause too many/few chromosomes to be passed on. Duplication Deletion Inversion translocation Common Chromosome Mutation Disorder Down’s Syndrome (trisomy 21) Caused by nondisjunction of chromosome 21, causing the individual to have 3 copies of chromosome 21 instead of 2 NONDISJUNCTION: chromosomes do not separate correctly during meiotic division causing gamete to have an extra or missing chromosome. Fertilization results in some form of genetic disorder Chromosomal Mutations 1. Duplication: make and extra copy of the gene 2. Deletion: remove a gene 3. Translocation: a gene moves another chromosome 4. Inversion: the genes reattach backward 1. Paracentric: occurs on same side of the centromere 2. Pericentric: occurs across the centromere Self Check! Karyotype Map of chromosomes that can be used to see if one or more chromosomes are misshapen. Chromosomes are easier to see if stained during metaphase Future Doctors of the World Sickle Cell Anemia 1 in 12 African Americans suffer from this disease A substitution point mutation occurred in the DNA. Results in the addition of Valine instead of Glutamic Acid in the amino acid sequence. This causes the Hemoglobin protein to be misshaped. Sickle Cell Anemia Hemoglobin is located in your red blood cells It carries oxygen to all of the cells of your body Sickle Cell Anemia The misshaped protein causes the round, red blood cells to become sickled in shape They cannot carry as much oxygen and they break very easily, clogging the arteries Tay-Sachs Enzyme needed to break down a certain type of fat is defective progressively destroys nerve cells (neurons) in the brain and spinal cord. infants lose motor skills such as turning over, sitting, and crawling. They also develop an exaggerated startle reaction to loud noises. As the disease progresses, children with Tay-Sachs disease experience seizures, vision and hearing loss, intellectual disability, and paralysis. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. Children with this severe infantile form of Tay-Sachs disease usually live only into early childhood. Cystic Fibrosis CF is most common among people of Central and Northern European ancestry abnormal transport of chloride and sodium across an epithelium, leading to thick, viscous secretions Down’s Syndrome typically associated with physical growth delays, a particular set of facial characteristics and a severe degree of intellectual disability. The average full-scale IQ of young adults with Down syndrome is around 50 (70 and below is defined as the cut-off for intellectual disability), whereas young adult controls have an average IQ of 100 Let’s Practice DNA Technology Due to improvements in technology a new branch of science, Molecular genetics, has been created. Molecular Genetics is the study of DNA DNA Extraction and Gel Electrophoresis DNA extraction is the process used to separate DNA from the rest of the cell. DNA must then be cut into smaller pieces to make them easier to study DNA is cut by using restriction enzymes and separated by gel electrophoresis Restriction Enzymes Cut DNA into smaller pieces Gel Electrophoresis After DNA is cut, it is separated by length in a gel DNA is attracted to positive side of the battery Smaller fragments move faster DNA fingerprinting Each person’s DNA will separate differently with gel electrophoresis Can be used to determine the father of an individual It’s the Maury Show!!! When it comes to the puppy in question, Dog # _______ you ARE the father!!! Recombinant DNA Made by taking short pieces of DNA from one organisn and joining it it the DNA of a completely different organism. Once it is made, it is placed back into a living cell in a process called transformation. Transformation is useful in medicine because scientist can transform bacteria to have human DNA in them. i.e. used to produce insulin Recombinant DNA Taking DNA from 2 different organisms and re-combining them together Gene splicing Transformation Recombinant DNA is put into cells (usually bacteria) to make human hormones Insulin How Does it Work? Bacterial cells contain a plasmid (small circular pieces of DNA). The gene for human insulin is curt from DNA with the same restriction enzyme used to cut bacterial plasmids The human DNA piece is placed in the bacterial plasmid and placed back into the bacteria cell Bacteria reproduce rapidly, making multiple copies of the insulin producing gene The gene is extracted and used to make medicine Transgenic Organisms Organism that contains genes from another organism Benefits Disadvantages Transgenic cows grow larger, faster, and with less fatty beef Cross pollination with wild plants could result in uncontrollable growth Transgenic plants are more resistant to pests, disease, insecticides Could cause allergies or other medical problems in people who eat it Cloning Transferring genetic material of a donor cell into an egg cell that has had it’s nucleus removed The egg is then stimulated by chemicals or electricity to cause it to divide Next, it is implanted into the uterus of a female until further development until birth The cloned organism is genetically identical to the original or parent organism May be used to save endangered species. Cloning Putting DNA into an egg cell The egg cell splits by mitosis to make an identical copy