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Biol 243 Midterm > 2D > Flashcards

2D Flashcards

1
Q

What are mutations

A

Change in nucleic acid sequence (DNA and RNA)

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2
Q

Mutation is inherited

A

Germline

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3
Q

Mutation is not inherited

A

Somatic

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4
Q

Small mutation

A

Gene level

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5
Q

Big mutation

A

Change on chromosomal level

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6
Q

Effect of altered gene sequence

A

Change amino acid sequence of polypeptide=> variation of phenotype (effect can be harmless or harmful or beneficial)

This is the main source of evolution (natural selection favours beneficial mutation)

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7
Q

Genetic mutation originally in ____ if heritable

A

Gametes so it become heritable, ex: sex influenced trait…autosomal dominant traits dependent of sex (so male express it and females dont like baldness)

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8
Q

SOmatic mutation, where

A

In all cells EXCEPT GAMETE=> NOT heritable
-mutation in progenitor cell and all other daughter cell express mutation,ex: cancer cells, expressed as sector like part of puzzle not whole

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9
Q

Base substitution

A

Small scale mutation

Single nucleotide change as a result of point mutation

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10
Q

Insertion

A

Small scale mutation
1+ base pairs added in sequence during DNA replication=frameshift mutation

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11
Q

Deletion

A

Small scale mutation
1+ base pair skipped during DNA replication usually=> frameshift mutation

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12
Q

Transition

A

Small scale mutation
Purine-> purine or pyramide-> Pyrimidine change

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13
Q

Transvertion

A

Small scale mutation
Purine to Pyrimidine or Pyrimidine to purine change

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14
Q

Missense mutation codon change effect

A

Aka non synonymous (change sense codon to sense codon for diff a.a.)
Change in a.a.

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15
Q

Nonsense mutation change effect

A

Aka premature step (change sense codon to stop codon)

Sense codon change into stop codon (truncated polypeptide)

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16
Q

Silent mutation change effect

A

Aka synonymous codon change (change sense codon to another codon for same a.a.)
Does NOT change a.a., why? Degeneracy of genetic code

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17
Q

Frameshift mutation effect

A

Aka insertion or deletion of small number of base pairs

Alter reading frame

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18
Q

WHat type of mutation is sickle cell anemia

A

Missense mutation (beta hemoglobin gene=> 6th a.a. Change from glutamic acid to valine)
R.B.C. Deficiency in O2 exchange, clog arteries, circulatory problems= higher risk of heart attack and stroke

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19
Q

Large scale chromosomal mutation types

A
  1. Depletion
  2. Duplication/amplification
  3. Translocation
  4. Inversion
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20
Q

Depletion

A

Large scale mutation

Loss of genes

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21
Q

Duplication/amplication

A

Large scale mutation

Increase dosage of gene

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22
Q

Translocation

A

Large scale mutation

Interchange of genetic part from non homologous chromosomes

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23
Q

Inversion

A

Large scale mutation

Reversing orientation of segment of chromosome

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24
Q

Spontaneous mutation

A

Naturally occurring mutation caused by replication errors and spontaneous lesions (de-ruination and deaminaion of bases)

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25
Q

Induced mutation and types??

A

Natural (environmental) or artificial (agent/not agent), cause mutation at much higher rate than spontaneous mutation

Types:
1. Mutagen… induce mutation by: replacing,alter, mispair, or damage (no longer pair with other base) base
2. Base analog… mimic bases and incorporates into DNA (cause mispairing during DNA replication, ex: 5-bromouracil pair with A)
3. Chemical… alter base structure=>mais-airing (alkylating and intercalating. Agents benzopyrene)
4. Damage to base (UV)

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26
Q

Allele

A

1 of diff for of gene (sequence variation)= diff phenotype

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27
Q

Wild-type allele

A

Normal form of gene and standard in lab

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28
Q

Loss of fxn allele

A

Mutation that reduce/eliminate gene fxn/expression

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29
Q

Gain of fxn allele

A

Mutation that enhance gene fxn/expression

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30
Q

What is a cell cycle

A

Set of process 1 cell grows and divides into 2 daughter cells

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31
Q

G1 and G2

A

Aka gap phases
Synthesis of proteins, RNA< metabolites

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32
Q

Sphase

A

DNA replication

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33
Q

M phase (mitosis)

A

Nuclear division

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34
Q

Cytokinesis

A

Cell division

35
Q

G0

A

Resting phase (most adults are constantly in this state)

36
Q

Eukaryotic cell cycle steps

A

1.G1 phase
2. S phase (DNA synthesis)
3. G2 phase
4. M phase (mitosis and cytokinesis)
5. G0 or G1

37
Q

What does the progression of the cell cycle depend on

A

Activation of cyclin dependent kinase (CDK)… bound to cyclin subunit in each phase of cell cycle

38
Q

Regulation of eukaryotic cell cycle

A
  1. DNA damage (G1/S) checkpoint…is DNA good for replication
  2. DNA replication (G2/M) checkpoint… is DNA fully replicated before mitosis
  3. Mitotic spindle checkpoint… are chromosomes aligned properly in metaphase
39
Q

What is cancer and how is it caused

A

Malignant growth
Caused by uncontrolled cell division and altered expression of multiple genes as result ofmutations

40
Q

What mutated genes are implicated in cancer

A

1.oncogenes:+ regulators in cell cycle (gain of fxn) including cyclin D/E (gene amplification), cdk4 allele (insensitive to inhibition)
2.tumor suppressor gene (- regulation of cell cycle and loss of fxn)
3. Inactivated p53 gene

41
Q

.n

A

Haploid number of chromosomes

42
Q

2n

A

Diploid number of chromosomes

43
Q

Homologous chromosomes

A

Maternal and paternal pair of chromosomes

44
Q

What is the same between homologous chromosomes??

A) # genes
B) order of genes
C) allele

A

A) and B)

**alleles can be diff

45
Q

Mitotic cell cycle 1

A

G1->G2->prophase

46
Q

What is G1 and its components

A

2n and 4 chromosomes… 1 chromatid per chromosome

47
Q

What steps brings G1->G2 in mitotic cell cycle I

A

DNA replication
Chromosome not visible
Centriole duplication

48
Q

G2 components

A

2n, 4 chromosomes, 2 chromatines/chromosome

49
Q

Steps bringing G2 to prophase in mitotic cell cycle 1

A

-duplicated chromosomes condense and become visible with sister chromatids
-duplicated centrioles (centrosomes) move apart and form mitotic spindles
-nuclear envelope breaks down

50
Q

Prophase components

A

2n,4 chromosomes, 2 chromatids/chromosome

51
Q

Steps of mitotic cell cycle II

A

1.prometaphase
2. Metaphase
3. Anaphase

52
Q

Steps bridging prophase to prometaphase

A

-kinetichore of sister chromatid is attached to spindle microtubule
-chromosomemove to equator of cell

53
Q

Prometaphase components

A

2n, 4 chromosomes, 2 chromatids/chromosome

54
Q

Prometaphase to metaphase

A

All chromosomes aligned at equator (metaphase plate)
Chromises attached to opp. Poles under tension

55
Q

Metaphase components

A

2n, 4 chromosomes,2 chromatids/chromosome

56
Q

Metaphase-> anaphase

A

Cohesin degraded
Sister chromatid and centromere separate to poles (spindle microtubule shortened)
Centrosome move further apart in anaphase B (microtubule lenghtened)

57
Q

Mitotic cell cycle III

A
  1. Telophase
  2. G1
58
Q

Anaphase-> telophase

A

-chromosome clustered at opp poles and decondensing
Nuclear envelope reforms around chromosomes
Cytoplasm begins to divide by furrowing (cytokinesis)

59
Q

Telophase

A

4n
8 chromosomes
1 chromatid/chromosome

60
Q

Telophase-> G1

A

2 daughter cells that are genetic duplicates of parental cell

61
Q

G1 components

A

2n, 4 chromosomes, 1 chromatid/chromosome

62
Q

Binary fission replication begins at

A

Origin

63
Q

In binary fission where is the bacterial chromosome (template and daughter) attached

A

Inner membrane

64
Q

Steps of binary fission

A
  1. Bacterial chromosome attached to inner membrane
  2. Cell elongates and bacterial chromosomes separate
  3. Inward growth og plasma membrane and partition of new cell wall=> dividing replicated DNA
  4. Produce 2 daughter cells (works cause 1 chromosome)
65
Q

Meiosis I steps

A
  1. Germ cell (2n, 4 chromosome, 1 chromatid/chromosome)
    -premeiotic DNA replication-
  2. Germ cell (2n, 4 chromosome, 2 chromatid/chromosome)
  3. Prophase I (condensation of chromosomes, synapsis, recombination)
    4.prometaphase I
  4. Metaphase I
  5. Anaphase I
  6. Anaphase II
  7. Telophase I
66
Q

What is condensation of chromosomes for meiosis I

A

Chromosomes condense to thread. 2 sister chromatid/thread

67
Q

What is synapsis of chromosomes for meiosis I

A

Homologous chromosomes come together and pair

68
Q

What is recombination of chromosomes for meiosis I

A

While paired,chromatids of homologous chromises undergo recombination by exchanging segments

69
Q

What is prometaphase I of chromosomes for meiosis I

A

Nuclear envelope breaks down, spindle moves into nuclear area, kinetochore connect to chromosome

70
Q

Synaptoemal complex

A

Non sister chromatids from 2 homologous chromosomes attached by this protein structure

71
Q

Recombination

A

Non sister chromatids éxhcnage pieces

72
Q

Recombination in eukaryotes

A
  1. Homologous chromosomes align during prophase I and exchange sections of non-sister chromatids during crossing over
    A) precise breakage
    B) equal exchange
    C) repair breakage after
  2. New chromatid with various combos of genes/alleles
73
Q

Meiosis I overview

A

Aka reductional division
-# of homologous pair of chromosomes is reduced from 2 in parental cell-> 1 in daughter cell
-chromosome # is haploid but 2 chromatids/chromosome
-sister chromatids nad centromeres do not split unlike mitosis and meiosis II
-sister chromatids no longer identical (crossing over)

74
Q

Interkinesis

A

Between meiosis 1 and 2
No DNA replication between first and second meiosis division

75
Q

Meiosis 2 steps

A

1.Prophase II
2. Prometaphase II
3. Metaphase II
4.Anaphase II
5. Telophase II

76
Q

Prophase II

A

Chromosomes condense and a spindle forms

77
Q

Prometaphase II

A

-nuclear envelope break down
-spindle enter nuclear area
-kinetochore microtubule from opp spindle pole attach to kinetochore of each chromosome

78
Q

Metaphase II

A

-movement of spindle microtubule align the chromosome on metaphase plate

79
Q

Anaphase II

A

-spindle microtubule separate 2 chromatids of each chromosome and deliver to opp spindle poles

80
Q

Telophase II

A

Chromosomes begin decondensing
Spindle disassemble
New nuclear envelope form

81
Q

Between meiosis 1 and 2 is there DNA replication

A

NOOO

82
Q

When do centromeres and sister chromatids separate

A

Anaphase II

83
Q

Meiosis II result

A

4 cells produced with haploid # of chromosomes 1 chromatid/chromosome…not identical due to crossing over and random assortment

Biol 243 Midterm (8 decks)

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