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Biol 243 Midterm > 2D > Flashcards

2D Flashcards

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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
Induced mutation and types??
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)
26
Allele
1 of diff for of gene (sequence variation)= diff phenotype
27
Wild-type allele
Normal form of gene and standard in lab
28
Loss of fxn allele
Mutation that reduce/eliminate gene fxn/expression
29
Gain of fxn allele
Mutation that enhance gene fxn/expression
30
What is a cell cycle
Set of process 1 cell grows and divides into 2 daughter cells
31
G1 and G2
Aka gap phases Synthesis of proteins, RNA< metabolites
32
Sphase
DNA replication
33
M phase (mitosis)
Nuclear division
34
Cytokinesis
Cell division
35
G0
Resting phase (most adults are constantly in this state)
36
Eukaryotic cell cycle steps
1.G1 phase 2. S phase (DNA synthesis) 3. G2 phase 4. M phase (mitosis and cytokinesis) 5. G0 or G1
37
What does the progression of the cell cycle depend on
Activation of cyclin dependent kinase (CDK)… bound to cyclin subunit in each phase of cell cycle
38
Regulation of eukaryotic cell cycle
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
What is cancer and how is it caused
Malignant growth Caused by uncontrolled cell division and altered expression of multiple genes as result ofmutations
40
What mutated genes are implicated in cancer
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
.n
Haploid number of chromosomes
42
2n
Diploid number of chromosomes
43
Homologous chromosomes
Maternal and paternal pair of chromosomes
44
What is the same between homologous chromosomes?? A) # genes B) order of genes C) allele
A) and B) **alleles can be diff
45
Mitotic cell cycle 1
G1->G2->prophase
46
What is G1 and its components
2n and 4 chromosomes… 1 chromatid per chromosome
47
What steps brings G1->G2 in mitotic cell cycle I
DNA replication Chromosome not visible Centriole duplication
48
G2 components
2n, 4 chromosomes, 2 chromatines/chromosome
49
Steps bringing G2 to prophase in mitotic cell cycle 1
-duplicated chromosomes condense and become visible with sister chromatids -duplicated centrioles (centrosomes) move apart and form mitotic spindles -nuclear envelope breaks down
50
Prophase components
2n,4 chromosomes, 2 chromatids/chromosome
51
Steps of mitotic cell cycle II
1.prometaphase 2. Metaphase 3. Anaphase
52
Steps bridging prophase to prometaphase
-kinetichore of sister chromatid is attached to spindle microtubule -chromosomemove to equator of cell
53
Prometaphase components
2n, 4 chromosomes, 2 chromatids/chromosome
54
Prometaphase to metaphase
All chromosomes aligned at equator (metaphase plate) Chromises attached to opp. Poles under tension
55
Metaphase components
2n, 4 chromosomes,2 chromatids/chromosome
56
Metaphase-> anaphase
Cohesin degraded Sister chromatid and centromere separate to poles (spindle microtubule shortened) Centrosome move further apart in anaphase B (microtubule lenghtened)
57
Mitotic cell cycle III
1. Telophase 2. G1
58
Anaphase-> telophase
-chromosome clustered at opp poles and decondensing Nuclear envelope reforms around chromosomes Cytoplasm begins to divide by furrowing (cytokinesis)
59
Telophase
4n 8 chromosomes 1 chromatid/chromosome
60
Telophase-> G1
2 daughter cells that are genetic duplicates of parental cell
61
G1 components
2n, 4 chromosomes, 1 chromatid/chromosome
62
Binary fission replication begins at
Origin
63
In binary fission where is the bacterial chromosome (template and daughter) attached
Inner membrane
64
Steps of binary fission
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
Meiosis I steps
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 5. Metaphase I 6. Anaphase I 7. Anaphase II 8. Telophase I
66
What is condensation of chromosomes for meiosis I
Chromosomes condense to thread. 2 sister chromatid/thread
67
What is synapsis of chromosomes for meiosis I
Homologous chromosomes come together and pair
68
What is recombination of chromosomes for meiosis I
While paired,chromatids of homologous chromises undergo recombination by exchanging segments
69
What is prometaphase I of chromosomes for meiosis I
Nuclear envelope breaks down, spindle moves into nuclear area, kinetochore connect to chromosome
70
Synaptoemal complex
Non sister chromatids from 2 homologous chromosomes attached by this protein structure
71
Recombination
Non sister chromatids éxhcnage pieces
72
Recombination in eukaryotes
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
Meiosis I overview
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
Interkinesis
Between meiosis 1 and 2 No DNA replication between first and second meiosis division
75
Meiosis 2 steps
1.Prophase II 2. Prometaphase II 3. Metaphase II 4.Anaphase II 5. Telophase II
76
Prophase II
Chromosomes condense and a spindle forms
77
Prometaphase II
-nuclear envelope break down -spindle enter nuclear area -kinetochore microtubule from opp spindle pole attach to kinetochore of each chromosome
78
Metaphase II
-movement of spindle microtubule align the chromosome on metaphase plate
79
Anaphase II
-spindle microtubule separate 2 chromatids of each chromosome and deliver to opp spindle poles
80
Telophase II
Chromosomes begin decondensing Spindle disassemble New nuclear envelope form
81
Between meiosis 1 and 2 is there DNA replication
NOOO
82
When do centromeres and sister chromatids separate
Anaphase II
83
Meiosis II result
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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