Genetics Exam 3 Flashcards

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0
Q

mutation that changes the mutant phenotype back into the wild type

A

Reverse mutation

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1
Q

mutation that alters the wild type phenotype

A

forward mutation

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2
Q

base substitution that results in a different amino acid

A

Missense mutation

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3
Q

mutation that changes a sense codon into a termination codon (severe mutation in protein function)

A

Nonsense mutation.

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4
Q

mutations generally impact?

A

the promotor, 5’ or 3’ noncoding sequences, splice junctions, and enhancers.

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5
Q

Chromatin structure and folding can impact?

A

gene function

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6
Q

mutation changes the codon but not the amino acid

A

silent mutation

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7
Q

missense mutatio alters the amino acid sequence but odes not change the function of the protein

A

Neutral

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8
Q

causes the complete or partial absence of a normal protein function. usually recessive

A

loss of function mutation

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9
Q

produces an entirely new trait or causes it to appear in an inappropriate tissue or at an inappropriate time

A

gain of function mutation

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10
Q

genetic change that hides or suppresses the effect of another mutation. can be Intragenic or Intergenic

A

Suppressor Mutation

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11
Q

occurs in the same gene as that containing the mutation being suppressed

A

Intragenic

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12
Q

…….

A

intergenic mutation

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13
Q

is Charge syndrome dominant or recessive if the affected patient is heterozygous?

A

Dominant

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14
Q

Charge Syndrome is a type of this mutation?

A

Nonsense-Codon CHD7 to a stop codon.

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15
Q

UUG codon codes for this amino acid?

A

Leucine

16
Q

UAG is this type of codon

A

Stop codon

17
Q

A base substitution that alters a single codon via insertion or deletion can result in?

A

a frameshift change

18
Q

tri-nucleotide repeats can incorrectly produce a_____ on the newly synthesized strand causing part of the template……

A

Hairpin loop

19
Q

Fragile X syndrome is a trinucleotide repeat of which codon?

A

CGG repeats

20
Q

Huntington Disease is a type of trinucleotide repeat of this codon? Does it increase or decrease with generations?

A

CAG repeats. increase with generations and it gets worse.

21
Q

addition of one or more nucleotides

A

insertion mutation

22
Q

Spontaneous replication errors, spontaneous chemical …..

A

common mutation factors

23
Q

if homologous chromosomes misalign during crossing over. what are the results?

A

one crossover contains an insertion. the other crossover contains a deletion.

24
Q

Loss of a purine results in a nucleotide that cant pair. involving which bases?

A

A and G

25
Q

Loss of an amine results in a biochemical change resulting in a different nucleotide replacing the original

A

methylcytosine…..

26
Q

Thymine is a normal base and it’s mutagenic analog is?

A

5-Bromouracil

27
Q

EMS is a classic chemical mutagen in which family?

A

alkylating agents

28
Q

proflavin, acridine orange, and ethidium bromine are types of?

A

intercalating agents

29
Q

Base analogs are mutatgenic bc of …..

A

they are similar in structure but not identical

30
Q

name the four DNA repair mechanisms

A

Mismatch repair, direct repair, base-exclusion, and nucleotide-exclusion repair

31
Q

in mismatched repair, the parent strand is methylated at GATC sequences……

A

……

32
Q

concept check 3

A

C…..

33
Q

what is Bloom Syndrome?

A

mutations in the gene encoding DNA helicase RecQ protein like-3 resulting in flaws in sister chromatid exchange.

34
Q

Xeroderma pigmentosum

A

Autosomal recessive disease, photosensitivty, De Novo mutation not passed on in generation.