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16 Cards in this Set
- Front
- Back
Mutation types
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-Point:change in 1 bp
-Deletions/Duplications: bases are added or removed from the normal sequence -Translocations:transfer of genes from 1 chromo location to another |
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Types of point mutations
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-transitions:purine to purine,or pyrim to pyrim
-transversions:purine to pyrimadine (A,G->C,U,T)or vice versa |
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Results of point mutations
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silent-trasnition,asymptomatic,codesfor same protein
nonsense-transversion,creates a stop codon,premature termination of translation, complete loss of protein function missense-transition,changes code to a diff protein frameshift-insertions & del of anyting other than 3bp's =shift in reading frame,premature stop codon & loss of protein function |
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Spontaneous point mutations
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hydrolysis rxns:
-hydrolysis of glycosidic bond b/t purine and deoxyribose=no base just OH on C#1 -hydrolysis of amino grp on cytosine=uracil tautomeric shifts:shifts durng replication -imino form of A pairs w/C -enol form of T pairs w/G -rare |
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Deamination of methyl cytosine & deaminating agents
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Both = errors in replication
-C is methylated = T -asymptomatic -common Agents: nitrous acid turns A to hypoxanthene & C to uracil |
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Pyrimadine dimers
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-UV radiation i.e. sunlight, causes 2 T dimers to occur in the same strand of a dbl helix
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Intercalating agents
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-agents insert themselves b/t bases
-mutations occur as frameshifts i.e. ethidium bromide,aflotoxin- causes G to T =transverion=liver CA |
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Postreplication mismatch repair
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-removes mismatches,ins & del from replication errors
-enzymes can tell old strand from new b/c old strand is methylated |
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2 main repair principles
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-base excision=single base repair
-nucleotide excision=bulky modification |
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Repair mechanisms
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-3'exonuclease activity=replication errors
-post replication mismatch=replication errors -direct repair=methylated bases, pyrim dimers in bact. -base excision=breaks bond b/t sugar & nonstandard base -AP endonuclease= takes out empty sugar -nucleotide excision=bulky lesions |
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TT dimer repair
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-scan for distortion i.e. abn width of helix
-excise region -fill in -ligate |
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Problems w/ repair rxns
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-99% succsessful
-repair DNA pols are sloppy than in replication -no post replication repair after a repair DNA pol |
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Cocayne syndrome
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-defect of nucleotide excision repair for transcribed genes
-poor growth -neuro probs -early senility -AR -2 types |
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Xeroderma pigmentosum
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-defect of genome wide nucleotide excision repair
-hyper sensitive to sun -neuro probs -30 yr.dec in life expectancy -inc risk of skin CA -AR -7 types |
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Complementation
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XP is present if both copies of an XP gene is mutated=
1 cell provides a protein that the other cell needs & vice versa -if no complementation then both cells are mutated in the same gene |
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Hereditary non-polyposis colon CA
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-defect in post replication mismatch repair
-80% risk of dev colon CA -dominant inheritance |