Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Biology > Gene Mutation & DNA repair > Flashcards

Gene Mutation & DNA repair Flashcards

1
Q

Mutations

A

Heritable change in genetic material

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

_________ changes the DNA sequence

A

Mutations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What are some advantageous of mutations?

A

Can cause allelic variation & evolution where if detrimental it can be repaired

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

____________ are molecular changes in the DNA sequence of a gene (changed a nucleotide in DNA)

A

Gene mutations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What are the 3 different types of gene mutations?

A
  1. Substitution (base substitution which is a type of point mutation)
  2. Deletion
  3. Insertion
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Point mutation

A

Change in a single base pair in DNA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Base substitution (type of point substitution)

A

When one base is substituted for another

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Transition

A

A change from one pyrimidine to another pyrimidine base (like C to T) or from one purine base to another purine base (like A to G)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Transversion

A

Purines & pyrimidines are interchanged

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

___________ can alter the coding sequences of a gene

A

Gene Mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Silent mutations

A

Are mutations that don’t change the amino acid that produce (but does change the codon but still get the same amino acid ) (Genetic material redundant)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Missense mutation

A

Are base substitution that does change the amino acid that is produced (can have minor or major effects)(ex. sickle cell disease)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Nonsense mutation

A

Involves a change from a normal codon to a stop condon

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Frameshift mutations

A

Involves the insertion or deletion of a number of nucleotides that are not multiples of 3 or dividably by 3 (group of 3)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

_____________ shifts the reading frame causing a new reading frame which changes protein sequence after it

A

Frameshift

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Mutation in noncoding sequences can affect ______________

A

Gene expression

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Up promter mutation

A

Promoters mutation that increase transcription (makes a sequence more like consence sequence)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Down promoter mutations

A

Decreases transcription rate & causes a promoter to become less like consensus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Coding regions

A

Is the protein

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Noncoding regions contains the promoter & ______________ & the regulatory sequence is behind the promoter

A

Deals with the expression level

21
Q

Mutations can occur in __________ of somatic cells

A

Germs - Line

22
Q

Germ cell mutation

A

Occurs during meiosis & is heritable

23
Q

Somatic cell mutations

A

Occurs during mitosis & not heritable

24
Q

Mutations are ____________

A

Mostly bad

25
Q

_____________ can detect, remove, or replace mutations

A

DNA repair

26
Q

What are the types of DNA repairs?

A
  1. Direct repair
  2. Base excision & nucleotide excision repair
  3. Mismatch repair
  4. Homologous recombination repair
  5. Non-homologous end joining
27
Q

Direct repair

A

Reverse covalent bonds

28
Q

Photolyase

A

Repairs thymine dimers or splits (breaks) the dimer

29
Q

Alkytransferase

A

Repairs alkylated base (methyl or ethyl group) & transfers alkyl groups to itself

30
Q

Glycosylase (Involves in Base excision repair)(BEA)

A

Detects abnormal base & cuts it out

31
Q

Endonuclease (Involved in Base excision repair BEA)

A

Cuts the back bone

32
Q

DNA polymerase in (base excision repair (BEA) )

A

Removes abnormal segments & fills in the gap

33
Q

DNA ligase (in Base excision repair (BEA) )

A

Seals the remaining gap

34
Q

What mutation is the worst mutation?

A

Non-sense mutation (but not always bad)

35
Q

CCR5 mutation

A

Deletes CCR5 & is HIV resistant therapy

36
Q

LPA mutation

A

Decrease heart disease

37
Q

PCSK9 heterozygous mutation

A

Causes overdominance (heterozygous advantage) & blocks PCSK9 protein by 50%

38
Q

Mutation can increase

A
  1. Endurance
  2. Flexibility
  3. Strength
  4. Wakefulness
  5. Durability
39
Q

What are the step in nucleotide excision repair (NER)?

A
  1. Uvr A/B looks for mutation (thymine dimer)
  2. Uvr A/B finds the mutation
  3. Uvr A leaves & Uvr C binds
  4. UrvC cuts DNA & Uvr D removes damaged region
  5. DNA polymerase fills in the gap with new region & ligase seals the cuts
40
Q

Xerodermine Pigmentosum (XP)

A

Is an NER disease & is sun sensitive

41
Q

Mismatch repair steps

A
  1. Chargaff rule - A binds to T & G binds to C
  2. DNA polymerase proofreads in the 3’ to 5 direction & if its detects a mismatch can repair it
  3. MutS finds mismatch & MutH/L binds to it
  4. MutH cuts new strand
  5. DNA polymerase fills gap ligase seals gap
42
Q

Double stranded break

A

Can lead to translocation (have 100 break per day)

43
Q

What are the 2 types of repairs for broken chromosomes?

A
  1. Homologous recombination (HRR)

2. Non-homologous end joining (NHEJ)

44
Q

Homologous recombination repair steps

A
  1. Double strand break
  2. End processing
  3. Strand exchange
  4. DNA synthesis
  5. Ligation
45
Q

Non-homologous end joining process

A
  1. Double stranded
  2. End binding protein bind to DNA strand
  3. Repair proteins repair break
  4. Gap filling & ligation
46
Q

Which repair system for broken chromosome is used more often & safer?

A

Non-homologous because not dividing sister chromatids(used 80% of the time to fixed double strand break)

47
Q

CRISPR

A

Breaks chromosomes & causes mutation

48
Q

What are the steps in base excision repair?

A
  1. Glycosylase recognize abnormal base & break the bond between the base & sugar phosphate back bone
  2. Endonuclease recognizes the missing base & breaks (cut) the DNA backbone near the missing base region
  3. DNA polymerase removes the damaged region & replaces it with a new region & fills in the gap with the region
  4. Ligase seals the little cuts in the backbone of the new region

Biology (64 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions