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The assembling of a protein into a specific sequence of amino acids. |
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Uses DNA to make RNA Occurs in the nucleus |
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Uses RNA to make protein Occurs in the cytoplasm |
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One nitrogenous base substitutes for another. |
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A new amino acid is specified Enzyme may work poorly or not at all |
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A base substitution in which there is not change in the specified amino acid. No change in protein. |
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Premature appearance of stop codon Partial protein |
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Add or delete a nucleotide in DNA resulting in a shift in the reading frame Sequence of amino acids is changed Protein is non-functional |
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A substance that causes a DNA base change For example- Chemicals or radiation Natural exposure to mutagens- sunlight, radon, cosmic rays X-Ray |
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The development of cancer |
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Occurence of mutation in proto-oncogenes, tumor suppressor genes, or genes affecting DNA repair |
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Anything that causes expression of the recessive allele Wher cancer develops |
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Metastasis- spread of cancer from one part of the body to another |
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Something known to cause cancer in a lab animal Difficult and expensive Most are mutagens |
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Responsible for carrying oxygen molecules from lungs to cell |
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Osteogenesis Imperfecta Type I |
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Inactivation of one of the alleles Reduces collagen by 50% Easily broken bones |
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The use or alteration of cells or biological molecules for specific applications |
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Type of biotechnology that manipulates genetic material in cells |
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carries message from DNA to ribosomes each 3 bases is called a codon |
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combines with protein to form a ribosome |
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actually attaches to an amino acid and moves it into its proper location |
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Properties of the Genetic Code |
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- triplet code-3 consecutive nitrogenous bases specify an amino acid
- Non-ambiguous-each codon specifies a specific amino acid
- Degenerative(redundant)-an amino acid may have more than one codon
- Has stop & start signals
- Universal-all organisms use the same mRNA codons to specify the same amino acids
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transcribed into mRNA and translated into proteins |
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transcribed into tRNA molecules than folded into the clover shape (not translated) |
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transcribed into very long rRNA molecules which become incorporated into the ribosomes (not translated) |
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an interval of DNA used during transcription to make one RNA molecule |
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tips of double helix "biological clocks" consist of repeated sequences of 6 base pairs |
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can add copies of repeated sequence into the telomeres *only active in germ cells (eggs & sperm) |
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any heritable change in DNA |
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- From parents-every cell in offspring carries mutation it present in egg or sperm
- Mitosis-if changes in a cell (mutation) it is inherited by daughter cells
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- single based substitution mutation
- cells clump and obstruct blood vessels
- loss of function
- inherited
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Protein with 51 amino acids Before 1982 cow insulin was used-removed pancreas of dead cows, usually worked OK but 1/20 were allergic and it was very expensive
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Recombinant DNA Technology |
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DNA for making insulin in humns is inserted into bacteria Big vats of bacteria (E.Coli) produce insulin called "humulin" Can be purchased in drug stores |
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Blue dye Genetically Modified Organism Origianlly from plants & mollusks E.Coli-makes blue dye |
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Circular DNA Insert DNA into a plasmid Insert plasmid into cells of target organism Produces a Genetically Modified Organism (GMO) Example: RoundUp Ready Corn/Beans |
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Herbicide Corn & beans with genes inserted to make them resistant to Roundup, the corn/beans survive and weeds dies Reduces cost Increases yield |
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Produces Roundup-Big Business Can't sell it to Europeans- they have objections to consuming GMO's Concern of GMO's escaping into natural environment |
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- Movement of transgenes to other species
- Inability to predict long term consequences of introducing GMO's into the environment
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Benefits and Problems With GMO's |
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- Added vitamins and less fat
- Nutritional value
- Ex. rice with added vitamin A and iron
- According to the World Health Organization vitamin A prevents blindness
- Problem-eating DNA-average meal contains 93,000 miles of DNA, labeling food products
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- GMO's
- Gene targeting: creating genes in mice that produce human-like diseases
- Used in research to study human diseases
- Uses: find causes, drug testing, gene therapy testing, AIDS research
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- Alterting genes to treat an inherited disorder
- Not easy
- 1st therapy focused on well-studied disease-later advanced to more common diseases
- 3 Methods of Delivery-1. Ex Vivo 2. In Situ 3. In Vivo
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Gene therapy outside the body Alters DNA in cells outside the body and is than infused in the body |
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The healthy gene inside a DNA vector (deactivated virus) is injected into a very localized and accessible body part. Skin cancer |
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The vector introduced directly into the body Infused in blood stream or injected into the body Canavan Disease |
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Goal of the Human Genome Project |
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Identify all the 30,000 genes in the human DNA, determine the sequence of the 3 billion base pairs in the human DNA |
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Restriction Fragment Length Polymorphism DNA Fingerprinting |
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X and Y Autosomes- other 44 |
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Human female gametes contain only one kind of... |
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Human male gametes contain either |
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Sex determining region of the Y chromosome |
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Becomes female, unless there is a functioning SRY gene |
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Individual with both sexes |
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Having an abnormal number of chromosomes |
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SRY is functioning Testes usually present Female internal structures disappear Block in testosterone synthesis No male structure (penis) Child appears to be female At puberty, adrenal glands start functioning Masculization occurs |
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Female 2N+1=47 (2 barr bodies) 1/1000 females May be fertile and have normal pregnancy Often tall and thin May have internal abnormalities Some may appear "normal" Not mentally retarded, but often have reduction in mental abilities compared to siblings |
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Female 2N-1=45 (0 Barr Bodies) 99% of fetuses die 1/2000 females born Wide set nipples Slight webbing Short stature Coarse facial features Slow or little sexual development at puberty Poor development of ovaries (sterile) Symptoms can be treated with hormonal therapy Only aneuploid not related to mother's age |
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Male 2N+1=47 (1 Barr body) 1/500 males affected underdeveloped testes some breast development sparse facial hair long arms and legs sometimes slow to learn treated with testosterone some have no symptoms, except sterility |
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Male 2N+1=47 1/1000 Apparently normal Sometimes-very tall, acne, speech and reading problems
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