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BIO 130.01 > M3: Gene & Chromosomal Mutations > Flashcards

M3: Gene & Chromosomal Mutations Flashcards

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1
Q

Alteration in the DNA sequence

Any base-pair change in the DNA MOLECULE

A

Gene Mutation

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2
Q

Basis of Classifying Gene Mutation

A
  • Cause
  • Location
  • Molecular Change
  • Phenotypic Effects
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3
Q

Types of Mutations Based on Cause

A
  1. Spontaneous
  2. Induced
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4
Q

Based on Cause

Results from the occasional errors during DNA Replication

*Very low mutation rate

*Occurs without external intervention

A

Spontaneous

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5
Q

Based on Cause

Using Mutagens (Biological-Transposons, Chemical-Base analogs, & Physical-UV Radiation)

*Induced by humans
*High mutation rate

A

Induced

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6
Q

Types of Mutations Based on Location

A
  1. Somatic
  2. Germ Line
  3. Autosomal
  4. Sex Chromosome
  5. Coding Regions
  6. Non-coding Regions
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7
Q

Based on Location

May result to altered cellular functions of the tumor

*Not heritable

*Ex: Non-reproductive Cells

A

Somatic Mutation

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8
Q

Based on Location

Heritable

Ex: Reproductive Cells

A

Germ Line Mutation

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9
Q

Based on Location

Mutations within genes located on the chromosomes not related to sex

A

Autosomal Mutation

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10
Q

Based on Location

Ex:
* X-linked mutation
* Y-linked mutation

A

Sex Chromosome Mutation

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11
Q

Based on Location

Regulatory sequences

Ex: Introns

A

Non-coding region of the gene

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12
Q

Based on Location

Ex: Exons

A

Coding Region of the Gene

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13
Q

How can DNA mutation can be fixed?

A

DNA Repair Mechanism

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14
Q

Existence of Gene Mutation

A

Permanent

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15
Q

Based on Cause

A possible source of spontaneous gene mutation

A

DNA Polymerase

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16
Q

Based on Location

An example of non-coding region for mutation

A

Cis-Acting Elements

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17
Q

Types of Mutation based on Molecular Change

A
  • Frameshift
  • Rearrangement
  • Base Substitution
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18
Q

Based on Molecular Change

Point Mutation

Replacement of one base by another base

A

Base Substitution

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19
Q

Purine to Purine Substitution

A

Transition

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20
Q

Purine to Pyrimidine Substitution

A

Transversion

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21
Q

Effects of Base Substitution

A
  1. Silent Mutation
  2. Non-sense Mutation
  3. Missense Mutation
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22
Q

Base substitution effects

No effect on the resulting protein

A

Silent Mutation

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23
Q

Base Substition Effect

Results to a stop codon

A

Nonsense mutation

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24
Q

Base Substitution Effect

Results to a faulty protein

A

Missense Mutation

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25
Q

Addition or deletion of nucleotides

* Most prevalent at repeated sequence
* No effect if adds/deletes units

A

Frameshift

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26
Q

Types of Framshift

A
  • Reading frame, +1
  • Reading frame, -1
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27
Q

Deletion or Addition of large number of nucleotides

A

Rearrangement

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28
Q

Types of Rearrangement

A
  • Large segment inserted
  • Large segment deleted
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29
Q

Rearrangement Effect

Truncated protein

A

Large segment deleted

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30
Q

Rearrangement Effect

Proteins with partial or no activity

A

Large segment added

31
Q

Types of Mutation based on Phenotypic Effects

A
  • Loss of Function
  • Null
  • Visible
  • Nutruitional Vitamin
  • Biochemical
  • Behavioral
  • Regulatory
  • Lethal
  • Conditional
  • Neutral
32
Q

Mutation Type based on Phenotypic Effect

Reduce or eliminate the function of the gene product

A

Loss of function

33
Q

Mutation Type based on Phenotypic Effect

Complete loss of function

A

Null

34
Q

Mutation Type based on Phenotypic Effect

Altered morphological trait

A

Visible

35
Q

Mutation type based on Phenotypic Effect

Inability to synthesize amino acid or vitamin

A

Vitamin

36
Q

Mutation based on Phenotypic Effect

Altered metabolic activities

A

Biochemical

37
Q

Mutation based on Phenotypic Effect

Altered behavior

A

Behavioral

38
Q

Mutation based on Phenotypic Effect

Inaapropriately activate or deactivate gene expression

A

Regulatory

39
Q

Mutation based on Phenotypic Effect

Affects survival

A

Lethal

40
Q

Mutation based on Phenotypic Effect

Environment-dependent

A

Conditional

41
Q

Mutation based on Phenotypic Effect

Negligible

A

Neutral

42
Q

Passed to Offsping in a predictable manner

Chromosome abberation

A

Chromosome mutation

43
Q

Two classes of Chromosome mutation

A
  • Variation based on chromosome number
  • Variation based on chromosome structire and arrangement
44
Q

Variations in chromosome number

A
  • Aneuploidy
  • Euploidy
45
Q

Organism gains or loses one or more chromosome

Imbalance in number of chromosome

A

Aneuploidy

46
Q

Aneuploidy

Error in meiosis

* Paired homologs failed in segregation
* Disrupts normal distribution

A

Non-disjunction

47
Q

Human conditions due to Aneuploidy

A
  • Down syndrome
  • Klinefelter syndrome
  • Patau syndrome
  • Turner syndrome
48
Q

Human condition with Aneuploidy

Only condition that wereable to survive more than a year

47, 21+

A

Down Syndrome

49
Q

Human condition with Aneuploidy

Male with female attributes

47, XXY

A

Klinefelter Syndrome

50
Q

Human condition with Aneuploidy

Offspring with cleft lips

47, 13+

A

Patau Syndrome

51
Q

Human condition with Aneuploidy

Female with male traits

45, X

A

Turner Syndrome

52
Q

Presence of complete haploid set of chromosome

A

Euploidy

53
Q

Well known in lizards, amphibians, fish, and plant species

A

Polyploidy

54
Q

Chromosome are identical to normal haploid complacent of the same species

Addition of one or more extra set of chromosome

A

Autopolyploidy

55
Q

Combination of chromosome sets from different species

Due to hybridization

A

Allopolyploidy

56
Q

Allotetraploids that originate from from original species

Exihbit traits from both parents

A

Amphidiploid

57
Q

Condition where certain cells are polyploid

Chromomsome replicate without nuclear division

A

Endopolyploidy

58
Q

Variation in Chromosome Structure and Arrangement

A
  • Insertion
  • Deletion
  • Inversion
  • Translocation
59
Q

Chromosome breaks in one or more place, and loses its portion

Defiency

A

Deletion

60
Q

Types of Deletion

A
  1. Terminal
  2. Intercalary
61
Q

Type of Deletion

Deletion occurs at one end of chromosome

A

Terminal Deletion

62
Q

Type of Deletion

Deletion occurs within the chromosome

A

Intercalary

63
Q

Sporadic loss of chromosomal material in gametes

* 46, XY, 5p-
* Segmental Deletion

A

Cri-du-chat Syndrome

64
Q

Any part of the genetic material is present more than once in the genome

A

Duplication

65
Q

Source of genetic variability during evolution

A
  • Gene Redunduncy
  • Phenotypic Variation
66
Q

Duplication error in synapsed chromosome

A

Duplication error in meiosis

67
Q

Duplication as replication error

A

Duplication error in mitosis

68
Q

Segment of chromosome turned around 180 degrees

Break at two points and insertion

A

Inversion

69
Q

Inversion

Inversion inculding centromere

A

Pericentric inversion

70
Q

Inversion

Inversion not inculding centromere

A

Paracentric inversion

71
Q

Movement of chromosomal segment to a new part of the genome

Occurs between non-homologous chromosomes

A

Translocation

72
Q

Types of Translocation

Equal balance exchange

A

Reciprocal Translocation

73
Q

Types of Translocation

Uneven Exchange

A

Non-reciprocal Translocation

74
Q

Syndrome that affects more family members than expected

A

Familial Syndrome

BIO 130.01 (13 decks)

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