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BIOLOGY > LECTURE 7 - Mutations > Flashcards

LECTURE 7 - Mutations Flashcards

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
  2. BRIDGE
    - 2 homologous chromosomes are still connected during anaphase
  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?
- cytological abnormalities?
- gametes?

A
  • 1X = (1,2,3,4) ; ONE SET of chromosome are present
  • 4 I (4 univalents)
  • Laggards at anaphase I
  • meiosis produces sterile gametes
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12
Q

CHROMOSOMAL MUTATIONS - Euploidy

POLYPLOIDY
- 1 example?
+ its…
- triploid genome?
- synapsis configuration?
- cytological abnormalities?
- gametes?

A

TRIPLOIDY

  • 3x = (1,2,3,4)(1,2,3,4)(1,2,3,4) ; THREE SET of chromosome are present
  • 4 III OR 4 II & 4I OR 12 I
  • Laggards and Chains at anaphase I and diakinesis
  • meiosis produces sterile gametes and a few fertile gametes
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13
Q

CHROMOSOMAL MUTATIONS - Euploidy

AUTOTETRAPLOIDY
- tetraploid genome?
- synapsis configuration?
- cytological abnormalities?
- gametes?

A
  • 4X = (A1, A2, A3, A4) (A1, A2, A3, A4) (A1, A2, A3, A4) (A1, A2, A3, A4)
  • 4 IV OR 4 III & 4 I OR 8 II OR 16 I
  • laggards, chains, and rings
  • meiosis produces sterile gametes and fertile gametes
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14
Q

CHROMOSOMAL MUTATIONS - Euploidy

ALLOTETRAPLOIDY
- tetraploid genome?
- synapsis configuration?
- cytological abnormalities?
- gametes?

A
  • 4X = (A1, A2, A3, A4) (A1, A2, A3, A4) (B1, B2, B3, B4) (B1, B2, B3, B4)
  • 8 II
  • none
  • meiosis produces 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
17
Q

CHROMOSOMAL MUTATIONS - Aneuploidy

ADDITION - TRISOMY
- genome?
- synapsis configuration?
- cytological abnormalities?
- gametes?

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

CHROMOSOMAL MUTATIONS - Aneuploidy

ADDITION - TETRASOMY
- genome?
- synapsis configuration?
- cytological abnormalities?
- gametes?

A
  • has 2 extra copies for a chromosome (2n + 2) :
    (1,2,3,4) (1,2,3,4) (1) (1)
  • 1 IV & 3 II OR 1 III, 3 II, & 1 I OR 5 II
  • chains, laggards, & rings
  • n, n+1, & n+2
19
Q

CHROMOSOMAL MUTATIONS - Aneuploidy

ADDITION - DOUBLE TRISOMY
- genome?
- synapsis configuration?
- cytological abnormalities?
- gametes?

A
  • has 1 extra copy for 2 chromosomes (2n + 1 + 1):
    (1,2,3,4) (1,2,3,4) (1,2)
  • 2 III & 2 II OR 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?

A
  • loss of 1 copy of chromosome (2n - 1):
    (1,2,3,4) (2,3,4)
  • 3 II & 1 I
  • laggards
  • n & n-1
21
Q

CHROMOSOMAL MUTATIONS - Aneuploidy

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

A
  • loss of both copies for a chromosome (2n - 2):
    (2,3,4) (2,3,4)
  • 3 II
  • none
  • n-1
22
Q

CHROMOSOMAL MUTATIONS - Aneuploidy

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

A
  • loss of one copy for 2 chromosomes (2n - 1 - 1):
    (1,2,3,4) (3,4,)
  • 2 II & 2 I
  • laggards
  • n, n-1, & n-2
23
Q

CHROMOSOMAL MUTATIONS - Aneuploidy

  • 4 common human disorders
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
A
  1. terminal
  2. intercalary
  3. homozygous
  4. heterozygous
25
Q

CHROMOSOMAL MUTATIONS - Structural Aberrations

TERMINOLOGIES

aberration occurring at END of chromosomes

26
Q

CHROMOSOMAL MUTATIONS - Structural Aberrations

TERMINOLOGIES

aberration occurred in the MIDDLE region of the chromosome

A

intercalary

27
Q

CHROMOSOMAL MUTATIONS - Structural Aberrations

TERMINOLOGIES

homologous chromosomes are BOTH affected

A

homozygous

28
Q

CHROMOSOMAL MUTATIONS - Structural Aberrations

TERMINOLOGIES

ONLY ONE in the chromosome pair is affected

A

heterozygous

29
Q

CHROMOSOMAL MUTATIONS - Structural Aberrations

  • 4 types?
A
  1. Duplication
  2. Deletion
  3. Inversion
  4. Translocation
30
Q

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
A
  • 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
Q

CHROMOSOMAL MUTATIONS - Structural Aberrations

DELETION

  • when a particular segment of a ____ has been _____
  • forms a _____ _____ during synapsis
  • HOMOZYGOUS vs HETEROZYGOUS
  • INTERCALARY vs TERMINAL
A
  • 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
Q

OTHER TERM for intercalary in STRUCTURAL ABERRATIONS

A

interstitial

33
Q

CHROMOSOMAL MUTATIONS - Structural Aberrations

INVERSION

  • when a particular segment of a ____ has been _____
  • HOMOZYGOUS vs HETEROZYGOUS
  • PERICENTRIC vs PARACENTRIC
A
  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
34
Q

CHROMOSOMAL MUTATIONS - Structural Aberrations

TRANSLOCATION

  • exchange of ______ ______ along multiple pairs or between non-homologous chromosomes
  • HOMOZYGOUS vs HETEROZYGOUS
  • RECIPROCAL vs NONRECIPROCAL
A
  • 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
Q

CHROMOSOMAL MUTATIONS - Structural Aberrations

TRANSLOCATION

  • ADJACENT SEGREGATION vs ALTERNATE SEGREGATION
    + gametes formed for each
A
  1. ADJACENT SEGREGATION
    - vertical or horizontal segregation of chromosomes
    - usually infertile or sterile gametes
  2. ALTERNATE SEGREGATION
    - diagonal pairs segregate together
    - fertile gametes
36
Q

CHROMOSOMAL MUTATIONS - Autotetraploidy

CHROMOSOME SEGREGATION

  • 2 types
A
  1. Random Chromosome Type
    - genes are close to the centromere
  2. Random Chromatid Type
    - genes are far from the centromere

BIOLOGY (34 decks)

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