Brainscape's Knowledge GenomeTM

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


See full index

Biol 207 > Lecture 5 > Flashcards

Lecture 5 Flashcards

1
Q

What is a Point Mutation?

A

Alteration of single base pair of DNA

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

What are types of Point Mutations?

A

Substitutions

Insertions or Deletions

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

What is a Substitution?

A

A single base pair is replaced by another. Usually, a single nucleotide is affected and during replication the complementary base pair is added

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

What is an Insertion of Deletion?

A

Adding or deleting a single base pair

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

What is a Transition?

A

A substitution that changes a purine for purine or pyrimidine for a pyrimidine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What is a Transversion?

A

Changing a purine for a pyrimidine or a pyrimidine for a purine

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

What is the source of point mutations?

A
  • Spontaneous Replication erros

* Spontaneous Chemical Changes

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

What are Spontaneous Replication Errors?

A
  • non-watson-crick base pairing causes wrong nucleotide to be incorporated
  • small deletions and insertions due to strand slippage
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What are Spontaneous Chemical Changes?

A
  • Depurination (loss of purine resulting in loss of base)

* Deamination (loss of an amino group) which converts a base pair to a different base pair

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

How are mutations repaired?

A

-Base excision repair (uracil removal)
-Nucleotide excision repair(removes pyrimidine and dimers)
-Mismatch repair (incorrectly replicated DNA, after proof reading
NHEJ and HR

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

What are the types of Substitution mutations?

A

Synonymous mutation
Missense mutation (conservative)
Missense mutations (non conservative)
Nonsense mutation

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

What is a Synonymous mutation?

A

A substitution that affect a codon in a position that does not alter the encoded amino acid

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

What is a Missense Mutation (conservative)?

A

A substitution that affects a codon so that a different amino acid is incorporated but the new amino acid has similar properties as the old one

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

What is a Missense Mutation (non-conservative)?

A

A substitution that affects a codon so that a different amino acid is incorporated but the new one has different properties of the old one

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

What is a Nonsense mutation?

A

A substitution that changes a codon into a stop codon causing the the premature termination of the protein

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

What are the types of insertions or deletions?

A

Frameshift mutation

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

What is a Frameshift mutation?

A

A single base pair insertion or deletion within the reading frame will alter all codons from this point until a stop codon is encountered

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

What is a Silent Mutation?

A

A general term for mutations that have no effect on the function and sequence of encoded protein regardless of which gene is hit

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

What is the Degenerate Code?

A

64 codons encode 20 amino acids and three termination signals

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

What happens if there is a mutation on regulatory DNA?

A

Because regulatory DNA controls the activity of the gene it will affect the amount of gene product

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What are Regulatory RNA elements?

A

Regions of the gene that are non-coding but transcribed and may be important for the regulating translation or stability of the mRNA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What happens if there is a mutation at a splice site?

A

Slice sites are important for RNA processing. It will affect either amount of protein or protein function

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

What happens if there is a mutation at a Ribosomal binding site?

A

It will affect the amount of protein

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What is a Morph?

A

Contrasting but recurring forms or types within a single population of a species

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

What are SNPs?

A

Single nucleotide variations in the genome which originated from point mutation and became “fixed” in the population

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

What does Genetic Mosaic mean?

A

Contains somatic regions that are genotypically different from each other

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

What is a prime example of Somatic mutations?

A

Cancer

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

What do gene mutation affect?

A

A single gene

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

What doe Chromosome mutations refer to?

A

Changes in a region of DNA that harbours multiple genes

30
Q

What is Aneuploidy?

A

Changes in chromosome number

31
Q

What are the X and Y chromosomes?

A

Sex Chromosomes

32
Q

What happens in abnormal meiosis?

A

Abnorma gametes
Errors in segregation
Nondisjunction of chromosomes

33
Q

What is nondisjunction?

A

Failure of homologous chromosomes or sister chromatids to separate and move to opposite poles during cell division resulting in the loss or gain of a chromosome

34
Q

What is Nullisomy?

A

Loss of both members of a homologous pair of chromosomes (2n-2)

35
Q

What is Tetrasomy?

A

The gain of a pair of homologous chromosomes (2n+4)

36
Q

What does the SHOX gene do?

A

Regulates growth

37
Q

What is Polyploidy?

A

The number of chromosome sets that an organism have

38
Q

What is triploid? Tetraploid?

A

3n and 4n

39
Q

What is Autopolyploidy through mitosis?

A

When there is a division of sister chromatids but no cell division resulting in polyploidy

40
Q

What does Colchicine do?

A

Inhibits microtubule polymerization and promotes non-disjunction events

41
Q

what is Autopolyploidy through meiosis?

A

When after meiosis I the cells do not separate leaving 2 copies of the chromosomes.

42
Q

How can Triploid occurs?

A

A 2n gamete fuses with a 1n (normal) gamete resulting in 3 copies

43
Q

What is Autopolyploidy?

A

Extra sets of chromosomes derived from the same species, caused by accidents in mitosis or meiosis

44
Q

What is Allopolyploidy?

A

When organisms contain 2 or more sets of chromosomes that are different species

45
Q

What causes seedless plants?

A

odd-ploidy resulting in sterility

46
Q

How can propagate sterile plants?

A

Cuttings grown asexually

Tetraploid plant can be crossed to diploid plans to create triploid seeds

47
Q

What is Endopolyploidy?

A

Certain cells that are polyploid in diploid organisms. Usually found in large specialized cells

48
Q

What causes Endopolyploidy?

A

Extra rounds of DNA synthesis with out mitosis or cytokinesis

49
Q

What are the types of Chromosomal Aberrations?

A

Deletion
Duplication
Inversion
Translocation

50
Q

What is Deletion in Chromoeomes?

A

Removal of a Chromosomal segment

51
Q

What is Duplication in Chromosomes?

A

A repetition of a chromosomal segment

52
Q

What is Inversion in Chromosomes?

A

Reversing a segment with an chromosome

53
Q

What is Translocation within a chromosome?

A

Moving a segment from one chromosome to another

54
Q

how can chromosomal deletion happen?

A

Two double strand breaks occur on the same chromosome and the NHEJ protein puts the incorrect fragments together

55
Q

What causes terminal deletion?

A

When a chromosome breaks in one or more places and the piece with out a centromere is lost and degraded

56
Q

What causes interstitial deletion?

A

When the centre portion of a chromosome is deleted and the ends rejoin

57
Q

What is the consequence of chromosomal deletion?

A

Depends on the size of lost pieces

58
Q

How may deletions and duplication occur in meiosis?

A

If crossing over occurs incorrectly between homologous chromosomes. Misalignment may occur by pairing at repetitive sequences resulting in a duplication and deletion on each chromosome

59
Q

What is a Tandem Duplication?

A

Duplications on chromosomes directly after each other

60
Q

What are insertional duplication?

A

Duplication that occurs at different parts of the chromosome twice

61
Q

What is a Reverse Duplication?

A

When a duplicated fragment is inverted and put in the same chromosome

62
Q

What is Intrachromosomal duplication and Interchromosomal duplication?

A

Intrachromosomal - Same chromosome

Interchromosomal - different chromsomes

63
Q

What is reciprocal translocations?

A

A balanced exchange where one region from one chromosome is swapped with a region from another chromosome

64
Q

What is the issue with reciprocal translocation?

A

Its not for sure which chromosomes are homologous

65
Q

What are Pericentric inversion?

A

When the Centromere is within the inverted region

66
Q

What is Paracentric inversion?

A

When the centromere is outside the inverted region

67
Q

How does NHEJ work?

A

When there is a double strand break and so it cuts off the hanging ends and rejoins them because there is no template for the correct nucleotides so there is small deletion of nucleotides

68
Q

What is homologous recombination?

A

When there is a double stand break but there is a sister chromatid to make up for the loss that occurred during the break

69
Q

What are Ku proteins in NHEJ?

A

Proteins that sense the double stranded breaks and bind to them to recruit the appropriate machinery

70
Q

What happens after Ku proteins attract machinery?

A

Some DNA is trimmed off and ligase re-attaches them

71
Q

How does Homologous recombination work?

A

It uses the a sister chromosome as a template when one of the sister chromosomes is broken

Biol 207 (14 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions