WVSOM -- Mutation
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Mutation | Any change in DNA sequence
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5 types of Silent Mutations | 3rd base of a wobbly codon
Spliced out intron
Spacer region of chromosome
Similar amino acids
Protein regions that aren’t critical
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5 types of Point Mutations | Transition
Transversion
Missense mutation
Nonsense mutation
Framesense mutation
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Mutant | entity with a mutation
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Wild type | nonmutated, found in nature
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Polyploidy | Triploidy
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5 examples of Chromosomal aberration | Deletion
Insertion
Duplication
Translocation
Inversion
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Spontaneous mutation | no known cause
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Induced mutation | Intentional mutanenesis
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Aneuploidy | Monosomy
Trisomy
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Silent mutations | mutation with no effect
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What are point mutations? | Changing a few, usually one, base pairs
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Missense Mutation | altering one amino acid
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Nonsense Mutation | A premature stop codon producing a truncated polypeptide
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Frame shift mutation | Altering reading frame by insertion or deletion of sequence that is not a multiple of 3
By one insertion change the whole reading.
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Chromosomal Aberrations | Change in chromosome structure
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Deletion | Loss of sequence
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Insertion sequence | Gain of sequence
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Duplication | Copying sequence
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Translocation | Transfer of sequence
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Inversion | Flip flopped sequence
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Crossing over within inversion regions results in ____________ | Duplication and deletion of chromosome arms
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Chromosome3 Duplication-Deletion syndrome | Inversion
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Cri-du-chat syndrome | Deletion of chromosome 5
Microcephaly
Wide eyes
Severe mental retardation
Cry of the Cat
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What is euploidy? | to possess complete sets of parental chromosomes
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Haploidy | one complete set
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diploidy | two complete sets
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polyploidy | more than two sets
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triploidy | three complete sets
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What is the genetic make up of down syndrome? | trisomy 21
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What genetic make up is Edwards syndrome? | trisomy 18
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Can kids with edward syndrome live? | no
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What is genetic make up of patau syndrome? | Trisomy 13
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What are symptoms of Edward's Syndrome? | club feet
overlapping fingers
only a fraction survive to birth and most die by 1 week
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What is patau syndrome | central face deformities
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Turner Syndrome genetic problem | Monosomy XO
All or part of the x chromosome is missing
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Symptoms of Turner Syndrome | physical abnormalities, such as short stature, lymphoedema, broad chest, low hairline, low-set ears, and webbed neck.
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Klinefelter syndrome genetic make up | XXy
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Klinefelter syndrome symptoms | gynamastia
tall
underdevelopment of sexual organs (testes)
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Extra sex chromosomes | XYY
Normal phenotype
Indistinctable from wild type
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What are endogenous mutagenic Processes? | naturally occuring within the cell
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What are DNA ligase errors? | chromosomal aberrations
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Examples of endogenous mutagenic processes | DNA ligase errors
Unequal Crossing over
Nondisjunction
DNA Polymerase Infidelity
Cytosome p-450 System
Depurination
Deamination
Tautomeric Shifts
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mutagenic | ability to produce mutations
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mutagenesis | process of producing mutations
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mutagen | factor that produces mutations
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What are exogenous agents? | Environmental factors, from outside the body
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What is unequal crossing over? | instead of exchanging in the same place it is unequal downstream
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What is nondisjunction? | Aneuploidies
During meiosis one of the chromosome pairs does not separate so two copies go to one cell and the other inherits nothing.
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What is cytochrome p-450 system? | hepatic detoxification system, osidizing hydrophobic compounds for excretion, activating some mutagens
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What is depurination? | purine excision
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What is deamination? | Excision of an amino group from A,C or G
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What are tautomeric shifts? | Transient changes in electron configuration of bases
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What are examples of exogenous mutagenic agents? | Radioactive
Chemicals
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What is most common radioactive mutagen? | ultraviolet light
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What is ultraviolet light in terms of mutation? | low energy, electromagnetic radiation, sun light, excites ele trons, induces thymine dimers
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What are ionizing radiation in terms of mutagenesis? | Higher energy, alpha adn beta particles, x rays, excise electrons, and induce point mutations mostly
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What are gamma rays in terms of mutogenesis? | very high energy, electromagnet radiation, cleave chemical bonds and induce chromosomal aberrations.
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Chemical mutagens | alkylating agents
strand cleavers
base analogs
intercalating agents
insertional elements
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What are alkylating agents? | nitrogen mustard, add methyl or ethyl groups. interfere with replication and cause poitn mutations and chromosomal aberrations
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What are strand cleavers? | peroxides and sulfer compounds.
React with phosphodiester bonds and create chromosomal aberrations
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Base analogs | bromouracil.
mimic nucleotides and cause transition mutations
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What are intercalating agents | Proflavin.
Wedge themselves into DNA and mimic a base pair.
Stresses phosphodiester backbones resulting in DNA breaking
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Insertional Elements | viruses and traonsposons.
jump in and otu of chromosomes, disrupt, add or delete sequence
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What is proofreading? | 3' - 5' exonuclease activity of the DNA replication apparatus
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What is DNA ligase? | This enzyme automatically joins any free 3' OH of one strand with a 5" phosphate of another.
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What is direct base repair? | enzymes that correct covalently damaged bases
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What is excision repair? | Specific enzymes that recognize base pair mistakes or covalently damaged nucleotides, and nick an adjacent strand. Then other enzymes excise the inapproprate base pairs and fill in the gap.
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What enzyme fills in gaps? | DNA Polymerase beta
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Natural selection question | will be given a scenario and must be able to recognize what is most likely the case where natural selection is teh cause.
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Created by:
tjamrose
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