BIOLOGY > LECTURE 9 - Mutations > Flashcards

LECTURE 9 - Mutations Flashcards

(41 cards)

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1
Q

MUTATION

  • heritable or not?
  • changes in the ____ sequence or ____ ____ of an organism
  • 2 main types?
A
  • heritable
  • DNA
  • genetic information
  1. Gene Mutations
  2. Chromosomal Mutations
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2
Q

GENE MUTATIONS

  • mutations involving HOW MANY of ____ (2)?
  • 2 types? + DIFFERENCE
A
  • involves one or a few BASES
  • affects one or a few GENES
  1. Base Pair Substitutions
    - changes in the identity of a base pair within a DNA sequence
  2. Frameshift Mutations
    - changes in the reading frame of a DNA sequence as a result of an addition or a deletion of a base
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3
Q

GENE MUTATIONS - Base Pair Substitutions

  • 2 main types and difference?
  • covers WHAT type of substitution?

+ WHEN + its 3 types + differences?

A
  1. Transition (purine to purine/pyrimidine to pyrimidine)
  2. Transversion (purine to pyrimidine & vice versa)
  • covers AMINO ACID SUBSTITTUION (changes in identity of amino acid coded AFTER a base pair substitution)

a. same sense mutation (mutated codon codes for the same amino acid)

b. missense mutation - mutated codon codes for a different amino acid)

c. nonsense mutation - mutated codon becomes a stop codon

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4
Q

GENE MUTATIONS - Frameshift Mutations

  • 2 main types and differences?

+ directional shift?

A
  1. Base deletion - frameshift to the right
  2. Base addition - frameshift to the left
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5
Q

WHAT do you call the complete set of chromosomes in a cell?

+ notation for diploid & haploid

A

Genome (X)

haploid = genome = X
diploid = 2X

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6
Q

4 CONFIGURATIONS of chromosomes during meiosis?

A

I - univalent
II - bivalent
III - trivalent
IIII - quadrivalent

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7
Q

CHROMOSOMAL MUTATIONS

  • occurs when HOW MANY of _____ are lost or gained by an organism?
  • 3 TYPES + difference?
A
  • one, a fer, or a whole set of chromosomes
  1. Euploidy (numerical)
    - addition/loss of WHOLE SET of chromosomes
  2. Aneuploidy (numerical)
    - addition/loss of ONE or FEW chromosomes
  3. Structural Aberrations
    - changes in the structure of chromosomes
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8
Q

HOW MANY are the CHROMOSOME SETS of the ff ploidy level?

  1. Monoploid
  2. Diploid
  3. Pentaploid
  4. Heptaploid
  5. Octaploid
A

1.) 1 set
2.) 2 sets
3.) 5 sets
4.) 7 sets
5.) 8 sets

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9
Q

CHROMOSOMAL MUTATIONS - Structural Aberrations

  • 4 main examples?
A
  1. LAGGARD
    - chromosome that lags behind during anaphase; nasa gitna pa rin si chromosome due to PARACENTRIC INVERSION
  2. BRIDGE
    - 2 homologous chromosomes are still connected during anaphase due to PARACENTRIC INVERSION
  3. RING
    - product of TRANSLOCATION
    - chromosome that forms a circular structure instead of a linear that occurs during QUADRIVALENTS (4 arms cross over)
  4. CHAIN
    - product of TRANSLOCATION
    - in QUADRIVALENTS: only 3 out of 4 arms undergo crossing over
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10
Q

CHROMOSOMAL MUTATIONS - Euploidy

  • 4 types?
A
  1. Monoploidy (one set of chromosome)
  2. Polyploidy (more than 2 sets of chromosome)
  3. Autotetraploidy (has 4 identical sets of chromsomes)
  4. Allotetraploidy (has 4 different sets of chromsomes)
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11
Q

CHROMOSOMAL MUTATIONS - Euploidy

MONOPLOIDY
- monoploid genome?
- synapsis configuration (1)?
- segregation at anaphase I?
- cytological abnormalities (1)?
- gametes?

A
  • 1X = (A,B,C,D) ; ONE SET of chromosome are present
  • 4 I (4 univalents)
  • irregular
  • Laggards at anaphase I
  • sterile gametes
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12
Q

CHROMOSOMAL MUTATIONS - Euploidy

POLYPLOIDY
- 1 example?
+ its…
- triploid genome?
- synapsis configuration (3)?
- segregation at anaphase I?
- cytological abnormalities (2)?
- gametes?

A

TRIPLOIDY

  • 3x = (A,B,C,D) (A,B,C,D) (A,B,C,D); THREE SET of chromosome are present
  • 4 III
  • 4 II & 4I
  • 12 I
  • irregular
  • Laggards in Anaphase I (due to I’s)
  • Chains in Diakineses (due to III’s)
  • mostly sterile, some fertile
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13
Q

CHROMOSOMAL MUTATIONS - Euploidy

AUTOTETRAPLOIDY
- tetraploid genome?
- synapsis configuration (4)?
- segregation at anaphase I (2)?
- cytological abnormalities (3)?
- gametes?

A
  • 4X = (A,B,C,D) (A,B,C,D) (A,B,C,D) (A,B,C,D)
  • 4 IV
  • 4 III & 4 I
  • 8 II
    -16 I
  • regular if (II and IV)
  • irregular (if I and III)
  • Laggards in Anaphase I
  • Chains and Rings in Diakineses
  • some sterile, some fertile
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14
Q

CHROMOSOMAL MUTATIONS - Euploidy

ALLOTETRAPLOIDY
- tetraploid genome?
- synapsis configuration?
- segregation at anaphase I?
- cytological abnormalities?
- gametes?

A
  • 4X = (A,B,C,D) (A,B,C,D) (E,F,G,H) (E,F,G,H)
  • 8 II
  • regular
  • none (only more II at diakinesis compared to normal)
  • fertile gametes
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15
Q

ANEUPLOIDY occurs because of??

+ which can happen in 2 ways….

A

NON-DISJUNCTION

  1. Bivalents fail to separate properly during meiosis I
  2. Sister chromatics fail to separate during meiosis II
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16
Q

CHROMOSOMAL MUTATIONS - Aneuploidy

  • 2 types?
  • 6 subtypes?
A
  1. ADDITION OF CHROMOSOMES
    a. Trisomy
    b. Tetrasomy
    c. Double trisomy
  2. LOSS OF CHROMOSOMES
    a. Monosomy
    b. Nullisomy
    c. Double Monosomy
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17
Q

CHROMOSOMAL MUTATIONS - Aneuploidy

ADDITION - TRISOMY
- genome?
- synapsis configuration (3)?
- cytological abnormalities (3)?
- gametes?

Study These Flashcards
A
  • has 1 extra copy for a chromosome (2n + 1) :
    (A,B,C,D) (A,B,C,D) (A)
  • 1 III & 3 II
  • 4 II & 1 I
  • 9 I
  • chains and laggards
  • n and n+1
18
Q

CHROMOSOMAL MUTATIONS - Aneuploidy

ADDITION - TETRASOMY
- genome?
- synapsis configuration (3)?
- cytological abnormalities (3)?
- gametes?

Study These Flashcards
A
  • has 2 extra copies for a chromosome (2n + 2) :
    (A,B,C,D) (A,B,C,D) (A) (A)
  • 1 IV & 3 II
  • 1 III, 3 II, & 1 I
  • 5 II
  • chains, laggards, & rings
  • n, n+1, & n+2
19
Q

CHROMOSOMAL MUTATIONS - Aneuploidy

ADDITION - DOUBLE TRISOMY
- genome?
- synapsis configuration (2)?
- cytological abnormalities (2)?
- gametes?

Study These Flashcards
A
  • has 1 extra copy for 2 chromosomes (2n + 1 + 1):
    (A,B,C,D) (A,B,C,D) (A,B)
  • 2 III & 2 II
  • 4 II & 2 I
  • chains and laggards
  • n, n+1, & n+2
20
Q

CHROMOSOMAL MUTATIONS - Aneuploidy

LOSS - MONOSOMY
- genome?
- synapsis configuration?
- cytological abnormalities?
- gametes?

Study These Flashcards
A
  • loss of 1 copy of chromosome (2n - 1):
    (A,B,C,D) (A,B,C)
  • 3 II & 1 I
  • laggards
  • n & n-1
21
Q

CHROMOSOMAL MUTATIONS - Aneuploidy

LOSS - NULLISOMY
- genome?
- synapsis configuration?
- cytological abnormalities?
- gametes?

Study These Flashcards
A
  • loss of both copies for a chromosome (2n - 2):
    (A,B,C) (A,B,C)
  • 3 II
  • none (only less II at diakinesis compared to normal)
  • n-1
22
Q

CHROMOSOMAL MUTATIONS - Aneuploidy

LOSS - DOUBLE MONOSOMY
- genome?
- synapsis configuration?
- cytological abnormalities?
- gametes?

Study These Flashcards
A
  • loss of one copy for 2 chromosomes (2n - 1 - 1):
    (A,B,C,D) (A,B)
  • 2 II & 2 I
  • laggards
  • n, n-1, & n-2
23
Q

CHROMOSOMAL MUTATIONS - Aneuploidy

  • 4 common human disorders
Study These Flashcards
A
  1. Down Syndrome
    - 3 copies of chromosome 21 (TRISOMY 21)
    - 2n+ 1 = 47 (+21)
  2. Klinefelter Syndrome
    - has XXY chromosomes
    - 2n + 1 = 47 (XXY)
  3. Trisomy X
    - 3 copies of chromosome X
    - 2n + 1 = 47 (XXX)
  4. Turner Syndrome
    - loss of one X chromosome
    - 2n - 1 = 45 (XO)
24
Q

CHROMOSOMAL MUTATIONS - Structural Aberrations

  • 4 TERMINOLOGIES
Study These Flashcards
A
  1. terminal
  2. intercalary
  3. homozygous
  4. heterozygous
25
CHROMOSOMAL MUTATIONS - Structural Aberrations TERMINOLOGIES aberration occurring at END of chromosomes
terminal
26
CHROMOSOMAL MUTATIONS - Structural Aberrations TERMINOLOGIES aberration occurred in the MIDDLE region of the chromosome
intercalary
27
CHROMOSOMAL MUTATIONS - Structural Aberrations TERMINOLOGIES homologous chromosomes are BOTH affected
homozygous
28
CHROMOSOMAL MUTATIONS - Structural Aberrations TERMINOLOGIES ONLY ONE in the chromosome pair is affected
heterozygous
29
CHROMOSOMAL MUTATIONS - Structural Aberrations - 4 types?
1. Duplication 2. Deletion 3. Inversion 4. Translocation
30
CHROMOSOMAL MUTATIONS - Structural Aberrations DUPLICATION - when a particular segment of a ____ has been _____ (multiple genes occurring more than expected) - forms a _____ _____ during synapsis - HOMOZYGOUS vs HETEROZYGOUS - INTERCALARY vs TERMINAL - TANDEM vs REVERSE TANDEM
- chromosome - duplicated - duplication loop 1. HETEROZYGOUS DUPLICATION - only 1 chromosome of the homologous pair exhibit duplication 2. HOMOZYGOUS DUPLICATION - both chromosomes in homologous pair exhibit same type of duplication ---- 1. INTERCALARY DUPLICATION - duplicated genes are at the interior segments of the chromosome 2. TERMINAL DUPLICATION - duplicated genes are at the end segments of the chromosome --- 1. TANDEM DUPLICATION - duplicated genes are adjacent to each other 2. REVERSE TANDEM DUPLICATION - duplicated genes are in adjacent BUT opposite order of the original
31
CHROMOSOMAL MUTATIONS - Structural Aberrations DELETION - when a particular segment of a ____ has been _____ - forms a _____ _____ during synapsis - HOMOZYGOUS vs HETEROZYGOUS - INTERCALARY vs TERMINAL
- chromosome - deleted - deletion loop 1. HETEROZYGOU DELETION - only 1 chromosome of the homologous pair exhibit deletion 2. HOMOZYGOUS DELETION - both chromosomes in homologous pair exhibit same type of deletion --- 1. INTERCALARY DELETION - deleted genes are at the interior segments of the chromosome 2. TERMINAL DELETION - deleted genes are at the end segments of the chromosome
32
CHROMOSOMAL MUTATIONS - Structural Aberrations INVERSION - when a particular segment of a ____ has been _____ - HOMOZYGOUS vs HETEROZYGOUS - PERICENTRIC vs PARACENTRIC
1. HETEROZYGOU INVERSION - only 1 chromosome of the homologous pair exhibit inversion 2. HOMOZYGOUS INVERSION - both chromosomes in homologous pair exhibit same type of inversion ---- 1. PERICENTRIC INVERSION - inversion occurs between genes with the CENTROMERE in between them so is also affected 2. PARACENTRIC INVERSION - centromere is not inversed
33
OTHER TERM for intercalary in STRUCTURAL ABERRATIONS
interstitial
34
CHROMOSOMAL MUTATIONS - Structural Aberrations TRANSLOCATION - exchange of ______ ______ along multiple pairs or between non-homologous chromosomes - HOMOZYGOUS vs HETEROZYGOUS - RECIPROCAL vs NONRECIPROCAL
- chromosomal - segments 1. HETEROZYGOUS TRANSLOCATION - only 1 chromosome of the homologous pair exhibit translocation 2. HOMOZYGOUS TRANSLOCATION - both chromosomes in homologous pair exhibit same type of translocation ---- 1. RECIPROCAL TRANSLOCATION - involve an exchange of segments between two non-homologous chromosomes 2. NONRECIPROCAL TRANSLOCATION - involve a one-way transfer of a segment from one chromosome to another
35
CHROMOSOMAL MUTATIONS - Structural Aberrations TRANSLOCATION - ADJACENT SEGREGATION vs ALTERNATE SEGREGATION + gametes formed for each
1. ADJACENT SEGREGATION - vertical or horizontal segregation of chromosomes - usually infertile or sterile gametes 2. ALTERNATE SEGREGATION - diagonal pairs segregate together - fertile gametes
36
CHROMOSOMAL MUTATIONS - Autotetraploidy CHROMOSOME SEGREGATION - 2 types
1. Random Chromosome Type - genes are close to the centromere 2. Random Chromatid Type - genes are far from the centromere
37
special type of translocation where there is transfer of genetic material in one direction + associated with phenotypic abnormalities (+ GIVE AN EXAMPLE OF SUCH DISORDER) *** what chromosome numbers (5) are affected by this translocation
Robertsonian Translocations ACROCENTRIC chromosomes 13, 14, 15, 21, 22 Familial Down Syndrome
38
2 problems associated with STRUCTURAL ABERRATIONS
1. Not all gametes will receive a complete haploid set of chromosomes after meiosis. 3. The gametes with a complete set of chromosomes and genes will be fertile but the gametes with an incomplete set of chromosomes and genes will be sterile.
39
study problem solving in RANDOM CHROMOSOME/CHROMATID type + paracentric & pericentric inversion (check photos)
40
DETERMINE THE TERM - wherein a specific region in chromosome 5 is deleted
Cri du chat ("cry of the cat")
41
DETERMINE THE TERM occurs when a reciprocal translocation occurs between chromosome 9 & 22
Chronic Myelogenous Leukemia
BIOLOGY
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