Term
| the differentiated cells of your body, other than germ/sex cells. These are spontaneous mutations and not transmitted to the next generation. Could result in tumors, cancers, etc |
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Definition
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Term
mutation in sperm or egg- has been determined to be the source of evolution. Can be passed
through generations. |
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Definition
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Term
| are changes in nucleotide sequences. have no known causes. Occurs during replication of cells. This type of mutation is extremely infrequent. In bacteria occurrence is 1/100 million. Humans is 1/1000 to 1/1 million mutations per gamete formed. Mutations within gametes after formation. |
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Definition
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Term
| mutation resulting from external factors, can be from natural or artificial means. |
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Definition
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| hypothesis at best, says certain organisms can select to mutate in certain environments. |
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Definition
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| the state in which they can cause mutation, the states for adaptive mutations. Certain bacteria can do this. E. coli when you starve it, before they succomb to starvation and death they put themselves in __________ states to attempt survival. |
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Definition
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Term
base substitutions- substitution on one base pair for another. two types:
• Missense mutation- a change of one nucleotide that may result in a brand new codon. Once translated of course a new coded amino acid.
• Nonsense mutation - a change in a nucleotide sequence that happens to change it into a stop codon. Ex: UgA? |
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Definition
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Term
| Point mutation:: a change of one nucleotide that may result in a brand new codon. Once translated of course a new coded amino acid. |
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Definition
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Term
| Point mutation :: change in a nucleotide sequence that happens to change it into a stop codon. Ex: UgA? |
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Definition
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Term
does not result in any phenotypical changes. Most scientist believe this is the cause of gradual
evolutionary changes in an organism. |
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Definition
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Term
| when a pyrimidine replaces another pyrimidine, or purine replaces another purine. T replaces C, or vice versa, and/or A and G are interchanged. |
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Definition
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Term
| purine replaces pyridimine or vise versa. |
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Definition
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Term
insertion or deletion of nucleotides. Not merely changing them. Can result in the entire
thing not making sense. Can occur in any number sequence except multiples of 3 because that would result in a codon. Adding three results in a codon. Could also result in a stop codon. (UGA, UAA, UAG.) so the protein sequence ends prematurely. |
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Definition
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Term
based on the severity of the frameshift and point mutation it could become a null mutation (loss in organisms ability to do perform this particular function). This is heritable. Could be either dominant
or recessive condition. |
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Definition
| Loss of function mutation |
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Term
| you've lost enough of the function, you can result in a completely ineffective gene and function completely lost. |
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Definition
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Term
mutation of the regulatory gene that controls the production of certain functions or products. Not always good. If gained cyclins, the cell cycle will go out of control.
Sometimes these could result in
That type of mutation is done on a particular product. If regulatory protein, it becomes a null mutation. |
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Definition
| Gain of function mutation |
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Term
| exhibits nutritional effects, loss of ability to produce certain amino acids. Type of missence mutation, also a type of loss of function mutation. |
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Definition
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Term
| loss of PAH (phenylalanine hydroxylase) enzyme which is a liver enzyme. Degrades phenylalanine into tyrosine. It instead builds up and is converted into phenopyruvic acid (aka phenylketone) which is expelled in urine and is a tell tell sign of the disorder. We currently know of 400 different types of mutations that cause PKU that occur in PAH gene, located on chromosome 12. This muitaiton involves one nucleic acid change- Transversion- results in GCC or TCC is changed to ACC. (see slide) because of this single amino acid the entire enzyme is compromised to either not function properly or not function at all. Inverstion mean it is also a type of frame shift mutation codes for missence product or mutation. |
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Definition
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Term
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Definition
| PAH (phenylalanine hydroxylase |
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Definition
Neutral mutation - a type of silent mutation. Involves transition- involves a change in amino acid codon. Causes
very little detectaboe problems. Could be a gain of function. Change is very slight or non detectable. Safest way for evolution to occur in theory. Over time could gain benefit.
Ex: Glutanic acid is converted to aspartic acid (???) slide. The shape of the enzyme remains the same, both are negative amino acids. No change in shape = no change in function. There is a different in a macro and micro evolution. Macro- huge catastrophe and big change occurs. |
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Term
| classic pku is this, as well as sickle cell, and hemophilia. Hemophilia is separated into 2 groups with one latched on.. Some people say 3. Hemophilia A, Hemophilia B, and Von willebrand. |
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Definition
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Term
X-linked recessive disease in every 1/4000-5000 births. Males are mostly affected, obviously.
Females can be carriers/heterozygous, and produce about 50% of the coagulation factor 8. |
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Definition
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Term
| Xq28 is aka the f8 gene (xchromosome, q arm, ) this codes for coagulation factor 8 or |
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Definition
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Term
| Hemophilia A:: -the entire 28 band is turned around or inverted. Basically going backwards. Equates in a non functioning protein. Occurs in prophase 1 when crossing over is taking place. |
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Definition
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Term
| hemophilia A is ------, single nucleotide is changed.. Or it could result from frame shift mutation (addition or deletion of nucleotides in sequences other than 3s) |
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Definition
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Term
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Definition
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Term
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Definition
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Term
| deficiency in factor 9. X linked recessive condition, mutation occurs in the f9 gene. Rare occurrence- 1/20,000 births. Recessive X linked so its Hemizygous for male, homozygous for females. Heterozygous females are carriers. Caused by frame shift mutation. Very rarely caused by inversion |
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Definition
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Term
| Hemophilia B is caused by what mutation? |
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Definition
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Definition
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Definition
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Definition
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Definition
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Definition
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sometimes classified with hemophilia, it mimics the symptoms. 1/10,000 live birth occurrence. Failure of or very low production ------------ blood clotting protein. without this protein, the
platelets don't aggregate - no coagulation, no clot. Doesnt involve factor 8 or 9. This protein is formed by VWF gene, mutaton in this causes lack of production of this protein, or production of a malfunctioning protein, or stops production all together. Low, missing, or non functional. |
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Definition
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Term
Von williebrand: type ?
the most mild form. Individuals are producing periodically, the blood clotting protein. Most common form |
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Definition
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Term
Von williebrand: type?
subdivided clinically into 4 types. Theyre all based on severity. Type one is the most mild, four is most serious. Varying amount of protein but more severe in the symptoms. |
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Definition
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Term
| Von williebrand type? non, or none functioning. If they get cut they will bleed out. |
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Definition
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Term
| mutation that occurs in the peneal gland in the brain. (This is where the circadium rhythm occurs in the brain in most mammals-innate behavior) So a mutation here messes up the circadian rhythm which in turn affects mating rituals. |
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Definition
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Term
| involve mutations of regulatory genes such as the lac operon (lactose operon). The regulatory proteins in this case.. Turns on and suddeny off. So this bacteria generally doesn't survive. Sporadic food production-processing of. |
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Definition
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Term
| example is temperature sensitive mutation- when the Siamese cat is an albino- in certain conditions their enzymes work (lower temperatures). Extremities are dark because temperature is controlling the mutation. |
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Definition
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Term
| another way mutations can occur. when a short sequence of DNA is inserted or completely deleted. Occurs when a segment of the DNA loops out, not in linear format. When DNA polymerase alpha goes through it, it tends to jump it and misses the loop, so it's not transcribed= missing a codon. Accidental loopage. -Could also result from when a DNA polymerase alpha slips or studders or misses.. Instead of adding 1 matching heterocyclic base pair, it adds 2 bases. So there won't be a complement. This is how insertions occur. Slippage/ studder occurs when there are a lot of repeated sequences. They're a hot spot for slippage. |
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Definition
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Term
| are isoforms of heterocyclic bases. If these are put in the sequence during replication, everything afterwards will repeat itself- the mistakes. |
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Definition
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Term
| which is a spell check enzyme. |
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Definition
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Term
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Definition
| involves itself with spontaneous mutations. Tautomers are isoforms of heterocyclic bases. They differ from the original molecule from a proton shift. (slide) T is now binding with G, and A with C. This is a spontaneous mutation. |
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Term
| a loss of heterocyclic bases, either Guanine or Adenine. Removing all purines in a segment of DNA. There is a gap when they are removed: |
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Definition
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Term
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Definition
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Term
| when an amino group in the bases such as Cytosine/Adenine is converted into a keto group. Aminoketo? |
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Definition
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Term
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Definition
| Oxidative damage - most of this that's done to the DNA is performed by a byproduct of cellular respiration. Are considered induced mutations. |
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Term
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Definition
Superoxide dismutases - performs a redox reaction. Gets rid of radicals. Converts superoxide into oxygen, as well as hydrogen perxide, the hydrogen peroxide is further treated with Peroxisomes which contain many enzymes one of which is catalase. This does two things to HO2- it uses HO2 to detox alcohol from the bloodstream, then once there is no need for it it's broken down into one molecule of oxygen.
We have no enzymes that can deal with hydroxyl radicals. They have a short life though. Pray it doesnt do much damage before it disappears. |
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Term
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Definition
Transposons- transposable genetic elements. Jumping genes. The genes that can be moved from one area of your DNA to another. Found in all living organisms. Estimated in humans: 50% of our genome is composed of this. We don't now what it's doing there, but it's hypothesized that it has to do with slow evolution.
Depending on where it's inserted, there's an opportunity for evolution (suspected)
Where is it going to be inserted? If its inserted in particular regions, it could cause phenotypic results. transposons can cause DNA breaks (worst case scenario), inversions, and translocations |
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Term
| - categories of mutagenic chemicals that can substituted for either purines or pyramidimes. Causes mutation during replication. |
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Definition
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Term
| -derivative of uracil. The bromide replaces the methyl group. |
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Definition
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Term
| linked with deoxyribose it is referred to as |
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Definition
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Term
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Definition
| another base analog. Can substitute for adenine. It is flexible- it can bind with thymine, but also with cytosine. Lucky - binds with T, what its supposed to. Cytosine bound= unlucky |
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Term
| another type of chemical mutagen. Mustard gas is the best example. Donates an alkyl group ch3, ch3ch2, an amino group, or keto group. |
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Definition
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Term
| 1,5-dichloro-3-thiapentane. A cytotoxic chemical warfare agent invented by Germans and first used in September 1917. Blistering agent- causes blisters all over body or inside lungs if inhaled. |
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Definition
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Term
| another chemical mutagin. Like mustard gas, it causes frame shift mutations. Proflavin and acridine orange are kind |
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Definition
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Term
| an antibacterial agent, cheap to produce and widely used in third world countries for antibacterial aid |
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Definition
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Term
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Definition
| shorter wavelengths- the shorter the wavelength the more powerful. Purines and pyramidines tend to absorb uv radiation at ~260nm. Most specifically pyramidines. Uv radiation tend to form diners. |
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Term
| covalentely linked either 2 cytosine or 2 thymanes. together they completely distort that section of DNA. So Polymerase can't read it and either skips it or mispairs it. If the dimeriztion is extensive, it is a major cause of tumors. |
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Definition
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Term
| formation of a G protein complex (the major one). About 30% of cancer is a malfunction of that.. the ras protein complex which is a G protein complex. It initiates cell cycle, If mutation occurs on the ras gene of the ________, Its always in the on position, it won't stop replication. |
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Definition
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Term
| x rays, gamma rays, and cosmic rays. All three are high energy, short wavelength. It can penetrate tissue.. It will react with proteins, lipids, nucleotides, nucleic acids.. And creates free radicals- A molecule that has unpaired electrons. They readily react with everything in your cells, when they react with for instance a nucleotide, mutations occur. It causes point mutaitons. |
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Definition
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Term
| free radical often formed from X-xray exposure - malform guanine. Forms base pairs with adenine rather than cytosine. Mispairs. |
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Definition
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Term
| surface eurethricyte located |
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Definition
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Term
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Definition
| mutation causes the protein dystrophin is absent. |
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Term
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Definition
| partially functional dystrophin protein. Less severe form of MD |
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Term
Trinucleotide repeats-
is CGG. normal is anywhere from 6-54. 55-230 are carriers, anywhere above that has the problem |
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Definition
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Term
| subtype of MD. begins around 20-30 years old, occurrence is 1/8000 people, autosomal dominant. |
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Definition
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Term
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Definition
| extreme muscle weakness- particularly around legs, face, hands, neck. |
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Term
| type 1 myotonic dystrophy (DM1) |
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Definition
| extreme muscle weakness- particularly around legs, face, hands, neck. |
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Term
| myotonic dystrophy protein kinase (MDPK) gene |
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Definition
| -Steinert's disease - type 1 myotonic dystrophy (DM1) - extreme muscle weakness- particularly around legs, face, hands, neck. Caused by a defect in myotonic dystrophy protein kinase (MDPK) gene. Codes for myotonic dystrophy protein kinase. It's responsible for cellular communication. Ex: heart muscles interconnected with gap junctions for unison contraction; Without this they can't communicate. |
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Term
| cutoff or rendered communicaiton between of SA (sinoatrial) node and AV (atrioventricular) node. SA node is pacemaker, spreads current though to the AV node, down and back up again. (slide) Pulse rate extremely low |
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Definition
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Term
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Definition
| Mild DM1- Heart problems, cataract, myotonia (can't control muscle contractions - prolonged contractions), decreased life span by ~10 years. |
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Term
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Definition
| Classic DM1- is anywhere up to 1000 repeats. Progressive muscle weakness and wasting away. Myotonia also occurs. Cataracts. Dysphasia. (unable to swallow) diabetes mellitus. (named for sweet urine!) |
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Term
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Definition
| out of 20-30 age range- this one you're born with. Over 100 trinucleotide repeats. Born with hypotonia, born with clubbed foot, respiratory difficulties, cataracts, type 2 diabetes mellitus (don't respond to insulin- G protein complex is down), axialperipheral neuropathy (nerves in arms and legs is degenerated), slow development if they live long enough, they have severe mental retardation if live long enough, and early death. |
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Term
| (nerves in arms and legs is degenerated |
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Definition
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Term
| low IGG or IGM. Prone to infection. |
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Definition
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Term
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Definition
| the DNA polymerase goes backwards its known as exonuclease. |
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Term
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Definition
| adenine methylase (enzyme) reads the sequence, at first the template. It adds methyl groups to every adenine it encounters. |
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Term
back up system, for when the exonuclease misses the mistake. Known in prokaryotes, believed to happen in eukaryotes.
this occurs when a pyramidine dimer is located on the template strand. |
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Definition
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Term
| the Rec A protein goes to the anti parallel (opposite of template) strand and cuts out a sequence- and moves it to the gap that is formed. Then the ligase comes in and repairs the othe side. This is in hopes that the original strand is correct. |
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Definition
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Term
| a hail Mary- pray to God we get it right. Last resort for prokaryotic cells- not believed to occur in eukaryotes. Occurs when DNA of the prokaryote becomes too mistake prone. Way too many mistakes are detected and too many to repair. The #### proteins from repair system which consist of ~20 genes coding 20 diff proteins (Rex A, Rex A, etc), this come in and allow the replication to continue although it doesn't want to proceed. The polymerase comes in and starts adding bases to the "?" sequence at random though it is bound to be wrong. Is basically chancing it being right which is a slim chance. Either it dies (9/10) or comes out with different genotype and phenotype and technically evolved. |
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Definition
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Term
| Photoreactivation repair - |
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Definition
| not humans, found in E. coli, certain fungi, some lower vertibrates. Not mammals. Involves blue light, reacts to that at 475-500nm wavelength range. |
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Term
| Photoreactivation repair - not humans, found in E. coli, certain fungi, some lower vertibrates. Not mammals. Involves blue light, reacts to that at 475-500nm wavelength range. Blue light activates: |
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Definition
| Photoreactication repair enzyme (PRE)- |
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Term
| smaller problems. designed to correct damages to small amounts of bases created by free radicals or chemical compounds. Involves DNA glycosylase. Enzyme is there to recognize damage done by free radicals or chemicals. Type of excision repair |
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Definition
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Term
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Definition
| enzyme. cuts the errors out. Subsequently, DNA polymerase comes in, ligase comes in to repair the gap. |
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Term
| Associated with large problems. Generally associated with UV radiation problems caused by UV radiation. Solved by gene which produces Protein UVR, Ultraviolet repair (uvr) gene. (Ultra violet repair protein.) Recognizes the problem (huge amount of problem in this case) cliffs it out, and polymerase and ligase comes in and fills in the gap. (uv radiation in this case is problems generated by dimers) |
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Definition
| Nucleotide excision repair (NER) - |
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Term
(transferring genes from one chromosome to the next), depurination and deamination, transposons. those are the spontaneous mutations.
It could be caused- induced mutation, oxidative damage, insertion of base analogs, alkylation agent, dimers, UV radiation, or free radical formation. |
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Definition
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Term
autosomal dominant condition. Mutations in the germ cells. (one
of the 1%) approximately 1/200 people have this. It could spread or become other types of cancers. People wtih this malfunction, in addition to colorectal- often get kidney, colon, ovarian, uteran cancer. |
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Definition
| Hereditary nonpolyposis colorectal cancer (HNPCC)- |
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Term
| It takes more than one single mutation for a normal cell to become |
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Definition
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Term
| the development of a tumor. The cell has lost control. 1/3 indivuals develop tumors, individuals determine if it will become cancerous or not. |
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Definition
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Term
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Definition
| study of factors that affect gene expression in a heritable manner. These gene expressions don't always alter the nucleotide sequence, it is how they're expressed. |
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Term
(in DNA methylation, histone modification... Didnt change sequence ut you alter expression. Alter the expression without changing the DNA. In cancer, a lot of the genes that are supposed to be methylated aren't and
genes that are supposed to be free are heavily methylated (hypermethylated). Alot of the genes that are hypermethylated are ones dealing with spell checking or checking sequences. Other genes that are broken/mutated - genes regulating cell cycles. And cells affecting cellular differentiation- (a differentiated cell can deconstruct...) |
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Definition
| Epigenetics modification- |
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Term
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Definition
| abnormal increase in number of normal cells. Benign by definition. |
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Term
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Definition
| reversion of cells to an immature state or less differentiate form, as occurs in most malignant tumors. |
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Term
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Definition
| Dysplasia-abnormal development or growth of tissue, organs, or cells (not normal arrangement) |
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Term
| abnormal differentiation of tissue; could be in reference to normal cell growth as well. |
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Definition
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Term
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Definition
| proliferation of benign or malignant tumo |
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Term
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Definition
| transformation of cell from normal to abnormal state. Could also be used in reference to normal transformation of cells. |
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Term
Cancer causing agents found in most processed food products. Formed generally from acetic conditions,
ex: it's formed in our digestive system. Second way formed: burning organic products (cigarrettes, weed, fire wood, etc) |
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Definition
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Term
| byproduct of breaking down alcohol inside your liver. Also a major cause of cancer. |
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Definition
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Term
| breaks alcohol down to acetyl aldehyde |
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Definition
| Alcohol dehydrogenase (ADH) |
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Term
coenzyme- helper- called glutathione breaks acetyl aldehyde down into acetic
acid, then acetate. Then various enzymes break acetate into co2 and h2o.
It is believed that acetaldehyde causes point mutations(not sure if nonsense or missense, found in high concentrations in indivuals with leukemia or lymphoma, as well as individuals with pancreatic cancer, osteocarcinoma, nasal cavity carcinoma, breast cancer, breast tumors, |
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Definition
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Term
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Definition
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Term
a biological warfare agent. "The yellow rain." Blistering agent.
Russians used this on the viatnamese, louse, afghanistan,
Aflatoxin is found in small quantities in cereal, oatmeal, peanuts, pasta, Peanut butter, dirty fridges, Et |
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Definition
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Term
atomic number 86. It is a breakdown of uranium. Colorless, odorless, noble gas, it's believed to be the second
leading cause of lung cancer in the world. (first is ciggarettes) Mostly from the soil around our houses.. Detectors are available in stores.. It seeps through the basement... The more tightly sealed/airtight our houses, the less that can seep out= the higher concentration for us to be exposed to.
In summation= living kills you. :) |
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Definition
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Term
| are genetic sequences that encodes transcription factors that are responsible for cell division and growth. In regards to cell division it deals with regulators involved in cell cycle. ________are generally shut off when you get to a certain age. (With the exception of bone marrow, stem cells, skin cells) |
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Definition
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Term
| produces a G-proteins complex which has three subunits. Alpha, beta, gamma in whatever sequence/combination. Ras gene is involved in 30% of all known cancers. G protein- in this case ras protein, is an on off switch, depending on where you put it, it turns certain things on and off. In this case ras protein is activated by growth factors/hormones. It is the signal molecule that turns this on (ligands). (Growth factors are Insulin like growth factor one and two.. ). |
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Definition
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Term
| On alpha subunit before it is activated, a spent energy moleucle is attached- --------------------Once it attaches, the attachment causes a conformational change. In this case, the alpha subunit separates.. Separation causes |
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Definition
| GDP guanilate diphosphate |
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Term
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Definition
| the replacement of GDP with GTP which causes the recruitment or nucleotide exchange factor. |
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Term
| The mutation is from glycine to valine, causes the inability to break down GTP. Is always on. Cells continually divide... Known to cause bladder cancer. Generally not detectable until in late stages. |
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Definition
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Term
| mutated g protein complex. when aspartic acid is replaced with asparagines- cant break down GTP. found in lung, colon, prostate, bladder cancer, cancer of nerves (neuroblastoma) breast cancer, |
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Definition
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Term
| cells in our body right now are ______ cells. The closest thing to the stem cells is the red marrow cells, Or karytinocytes found in stratum basil of skin. Epithelial and red marrow constanly divide... Liver cells will only replicate when there is damage to that organ. The cells in eyes are irreparable. Astrocytes form scar tissue- damaged nerve cells. (doctors have 12 hours for some surgeries (spinal, etc) in this case because they will convert to scar tissue) |
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Definition
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Term
| cyclins involved are cyclin Ds. (D1,D2,D3) cyclin Ds are GI phase cyclins. Cyclins Ds are regulated by ras proto oncogenes. Can bind to two kinases- 4 and 6. Binding to both of these kinases prompts transcription and later translation of DNA polymerase delta as well as DNA ligase. If mistakes are detected between GI and s, (exonuclease spots what's wrong and prompts apoptosis) |
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Definition
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Term
| involves cyclin B and CDK 1 they activate various enzymes - involved in breaking down the nuclear membrane, condensation, and cytoskeleton reorganization . I this isn't properly done, it proceeds to apoptosis. |
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Definition
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Term
| where it's checking kinnetichore micro tubules are attached. Mad and bub proteins are found in centromeres of chromosome, they detect tension. Potentially non disjunction- if . |
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Definition
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Term
regulates cell cycle. It initiates apoptosis. If there is any damage done to DNA, this triggers cell suicide. If its mutated, the mistake is not destroyed and mistake is repeated.
One is p53- most well researched. This is responsible for 50% of all cancers in humans. P53 gene codes for p53 protein and is responsible for transcription of 50 different genes.
In normal situations p52 is bound to 2 mdm2. Effects murine double minute 2 (mdm2) has on p53- it marks p52 for destruction. It also binds to it to prevent it from being phospholated or methylated. Cork to prevent premature activation. |
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Definition
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