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WVSOM -- Genetics

WVSOM -- Mutation

QuestionAnswer
Mutation Any change in DNA sequence
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
5 types of Point Mutations Transition Transversion Missense mutation Nonsense mutation Framesense mutation
Mutant entity with a mutation
Wild type nonmutated, found in nature
Polyploidy Triploidy
5 examples of Chromosomal aberration Deletion Insertion Duplication Translocation Inversion
Spontaneous mutation no known cause
Induced mutation Intentional mutanenesis
Aneuploidy Monosomy Trisomy
Silent mutations mutation with no effect
What are point mutations? Changing a few, usually one, base pairs
Missense Mutation altering one amino acid
Nonsense Mutation A premature stop codon producing a truncated polypeptide
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.
Chromosomal Aberrations Change in chromosome structure
Deletion Loss of sequence
Insertion sequence Gain of sequence
Duplication Copying sequence
Translocation Transfer of sequence
Inversion Flip flopped sequence
Crossing over within inversion regions results in ____________ Duplication and deletion of chromosome arms
Chromosome3 Duplication-Deletion syndrome Inversion
Cri-du-chat syndrome Deletion of chromosome 5 Microcephaly Wide eyes Severe mental retardation Cry of the Cat
What is euploidy? to possess complete sets of parental chromosomes
Haploidy one complete set
diploidy two complete sets
polyploidy more than two sets
triploidy three complete sets
What is the genetic make up of down syndrome? trisomy 21
What genetic make up is Edwards syndrome? trisomy 18
Can kids with edward syndrome live? no
What is genetic make up of patau syndrome? Trisomy 13
What are symptoms of Edward's Syndrome? club feet overlapping fingers only a fraction survive to birth and most die by 1 week
What is patau syndrome central face deformities
Turner Syndrome genetic problem Monosomy XO All or part of the x chromosome is missing
Symptoms of Turner Syndrome physical abnormalities, such as short stature, lymphoedema, broad chest, low hairline, low-set ears, and webbed neck.
Klinefelter syndrome genetic make up XXy
Klinefelter syndrome symptoms gynamastia tall underdevelopment of sexual organs (testes)
Extra sex chromosomes XYY Normal phenotype Indistinctable from wild type
What are endogenous mutagenic Processes? naturally occuring within the cell
What are DNA ligase errors? chromosomal aberrations
Examples of endogenous mutagenic processes DNA ligase errors Unequal Crossing over Nondisjunction DNA Polymerase Infidelity Cytosome p-450 System Depurination Deamination Tautomeric Shifts
mutagenic ability to produce mutations
mutagenesis process of producing mutations
mutagen factor that produces mutations
What are exogenous agents? Environmental factors, from outside the body
What is unequal crossing over? instead of exchanging in the same place it is unequal downstream
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.
What is cytochrome p-450 system? hepatic detoxification system, osidizing hydrophobic compounds for excretion, activating some mutagens
What is depurination? purine excision
What is deamination? Excision of an amino group from A,C or G
What are tautomeric shifts? Transient changes in electron configuration of bases
What are examples of exogenous mutagenic agents? Radioactive Chemicals
What is most common radioactive mutagen? ultraviolet light
What is ultraviolet light in terms of mutation? low energy, electromagnetic radiation, sun light, excites ele trons, induces thymine dimers
What are ionizing radiation in terms of mutagenesis? Higher energy, alpha adn beta particles, x rays, excise electrons, and induce point mutations mostly
What are gamma rays in terms of mutogenesis? very high energy, electromagnet radiation, cleave chemical bonds and induce chromosomal aberrations.
Chemical mutagens alkylating agents strand cleavers base analogs intercalating agents insertional elements
What are alkylating agents? nitrogen mustard, add methyl or ethyl groups. interfere with replication and cause poitn mutations and chromosomal aberrations
What are strand cleavers? peroxides and sulfer compounds. React with phosphodiester bonds and create chromosomal aberrations
Base analogs bromouracil. mimic nucleotides and cause transition mutations
What are intercalating agents Proflavin. Wedge themselves into DNA and mimic a base pair. Stresses phosphodiester backbones resulting in DNA breaking
Insertional Elements viruses and traonsposons. jump in and otu of chromosomes, disrupt, add or delete sequence
What is proofreading? 3' - 5' exonuclease activity of the DNA replication apparatus
What is DNA ligase? This enzyme automatically joins any free 3' OH of one strand with a 5" phosphate of another.
What is direct base repair? enzymes that correct covalently damaged bases
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.
What enzyme fills in gaps? DNA Polymerase beta
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.
Created by: Todd Jamrose Todd Jamrose on 2008-11-12



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