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14 Cards in this Set

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  • Back

spontaneous mutations

changes that result from normal cell processes


occur randomly at infrequent but characteristic rates


base substitution most common; leads to 3 possible outcomes (silent, missense, nonsense)

point mutation

change of a single base pair

silent mutation

wild-type amino acid


a single base pair substitution that codes for the same codon and does not alter the protein

missense mutation

different amino acid


a single base pair substitution that codes for a different codon


resulting protein may only partially function (termed: leaky)

nonsense mutation

a single base pair substitution that codes for a premature stop codon which yields a shorter protein


(specifies stop codon


yields shorter protein)

stop codons

UAA (you are away)


UGA (you gone away)


UAG (you are gone)

frameshift mutations

deletion or addition of nucleotides


3 pairs changes one codon; impact depends on location within protein


alters reading frame, one amino acid more or less


often results in premature stop codon


shortened, nonfunctional protein; knockout mutation

null/knockout mutation

a mutation that inactivates gene

induced mutations

result from outside influence


mutagen: agent that induces change


2 general types: chemical & radiation

chemical induced mutation

Chemical mutagens: may cause base substitutions or frameshift mutations


Some chemicals modify nucleobases by exchanging base-pairing properties


Base analogs resemble nucleobases which can mistakenly be incorporated by DNA polymerase

intercalating agents

Cause frameshift mutations


Flat molecules that intercalate (insert) between adjacent base pairs in DNA strand


Pushes nucleotides apart, produces space


Causes errors during replication


If in template strand: a base pair is added to synthesized strand


If in strand being synthesized: a base pair is deleted, which often results in a premature stop codon

Radiation

2 types: UV irradiation and X rays

UV irradiation

Forms thymine dimers (covalent bonds between adjacent nucleotides which distorts DNA molecule)


Replication and transcription stall at distortion


Cells will die if damage not repaired


Mutations results from cell's SOS repair mechanism


Fixed by "photoreactivation" (only prokaryotes) and excision repair

X rays

Cause single- and double-stranded breaks in DNA


Double strand breaks often produce lethal deletions


Can alter nucleobases