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BIO360 - Genetics > Chapter 15 - Gene Mutations > Flashcards

Chapter 15 - Gene Mutations Flashcards

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1
Q

What term refers to a heritable change in the genetic material?

A

Mutation

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2
Q

What is the positive side of Allelic variations provided by mutations?

A

They are the foundation for evolutionary change and necessary for a species to adapt to changes in the environment

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3
Q

What is the negative side of Allelic variations provided by mutations?

A

New mutations are more likely to be harmful that beneficial and are often the cause of diseases

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4
Q

What is a point mutation?

A

A change in a single base pair

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5
Q

What is the change of a pyrimidine (C, T) to another pyrimidine or a purine (A, G) to another purine called?

A

Transition

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6
Q

What is the change of a pyrimidine (C, T) to a purine (A, G) or vice versa called?

A

Transversion

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7
Q

Which is more common? A Transversion or a Transition?

A

A Transition

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8
Q

What else can mutations involve?

A

Deletion or Addition

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9
Q

What type of mutation is a base substitution that does not alter the amino acid sequence of the polypeptide? (AGT to AGC = both code for serine)

A

Silent Mutation

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10
Q

What type of mutation is a base substitution in which an amino acid change does occur? (GAG to GTG = Glutamic Acid to Valine)

A

Missense Mutation

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11
Q

What type of mutation is Sickle-Cell Anemia?

A

Missense Mutation

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12
Q

What type of mutation is a base substitutions that change a normal codon to a stop codon?

A

Nonsense Mutation

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13
Q

What type of mutation involves the addition or deletion of a number of nucleotides that is not divisible by three?

A

Frameshift Mutation

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14
Q

Where can mutations change levels of gene expression?

A

In the Core Promoter

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15
Q

What type of mutation increases expression?

A

Up mutations

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16
Q

What type of mutation decreases expression?

A

Down mutations

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17
Q

What is the possible effect of a mutation on the Promoter?

A

It may increase or decrease the rate of transcription

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18
Q

What is the possible effect of a mutation on the Regulatory Element/Operator Site?

A

It may disrupt the ability of the gene to be properly regulated

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19
Q

What is the possible effect of a mutation on the 5’-UTR/3’-UTR?

A

It may alter the ability of mRNA to be translated; may alter mRNA stability

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20
Q

What is the possible effect of a mutation on the Splice Recognition Sequence?

A

It may alter the ability of pre-mRNA to be properly spliced

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21
Q

What is the relatively prevalent genotype called in a natural population?

A

The wild-type genotype

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22
Q

What type of mutation changes a wild-type genotype into some new variation?

A

A Forward Mutation

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23
Q

What type of mutation changes a mutant allele back to the wild-type genotype?

A

A Reverse Mutation (reversion)

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24
Q

What type of mutation decreases the chance of survival?

A

Deleterious Mutations

25
Q

What is the most extreme Deleterious Mutation?

A

Lethal Mutations

26
Q

What type of mutation enhances the survival or reproductive success of an organism?

A

Beneficial Mutations

27
Q

What can affect the whether a given mutation is deleterious or beneficial?

A

The environment

28
Q

What is it called when mutations affect the phenotype only under a defined set of conditions? (Ex. Temperature-Sensitive mutation)

A

Conditional Mutations

29
Q

What is a second-site mutation that can counteract the effects of a first mutation?

A

Suppressor Mutation or Suppressors

30
Q

What is a second mutant site within the same gene as the first mutation?

A

Intragenic Supressor

31
Q

What is a second mutant site in a different gene from the first mutation?

A

Intergenic Suppressor

32
Q

What are the two types of Animal Cell classifications?

A

Germ-line cells and Somatic Cells

33
Q

What type of cells that give rise to gametes such as eggs and sperm?

A

Germ-line Cells

34
Q

What type of cells are all other cells?

A

Somatic Cells

35
Q

What type of mutations occur directly in a sperm or egg cell, or in one of their precursor cells?

A

Germ-line Mutations

36
Q

What type of mutations occur directly in a body cell, or one of its precursor cells?

A

Somatic Mutations

37
Q

What type of mutations result form abnormalities in cellular/biological processes?

A

Spontaneous Mutations

38
Q

What type of mutations are caused by environmental agents?

A

Induced Mutations

39
Q

What are the agents known to alter DNA structure?

A

Mutagens

40
Q

What is the abnormal crossing over that may cause deletions, duplications, translocations, and inversions called?

A

Aberrant Recombination (Spontaneous)

41
Q

What is the abnormal chromosomal segregation that may cause aneuploidy or polyploidy?

A

Aberrant Segregation (Spontaneous)

42
Q

What is a mistake by DNA polymerase that may cause a point mutation?

A

Errors in DNA Replication (Spontaneous)

43
Q

What are elements that can insert themselves into the sequence of a gene?

A

Transposable Elements (Spontaneous)

44
Q

What is the linkage between purines (Adenine and Guanine) and deoxyribose that can spontaneously break? If not repaired, this can lead to mutation.

A

Depurination (Spontaneous)

45
Q

What is it called when Cytosine and 5-methylcytosine can spontaneously deaminate to create uracil or thymine?

A

Deamination (Spontaneous)

46
Q

What is a spontaneous change in base structure that can cause mutations if they occur immediately prior to DNA replication?

A

Tautomeric Shifts (Spontaneous)

47
Q

What are the products of normal metabolic processes, such as reactive oxygen species, it may be chemically reactive agents that can alter the structure of DNA?

A

Toxic Metabolic Products (Spontaneous)

48
Q

What are chemical substances that may cause changes in the structure of DNA?

A

Chemical Agents (Induced)

49
Q

What are physical phenomena such as UV light and X-rays that can damage the DNA?

A

Physical Agents (Induced)

50
Q

What is the likelihood that a gene will be altered by a new mutation?

A

Mutation Rate

51
Q

What is the range of a mutation rate

A

10^(-5) to 10^(-6) per generation

52
Q

What are the three types of spontaneous mutations that can arise by three types of chemical changes?

A
  1. Depurination
  2. Deamination
  3. Tautomeric Shift
53
Q

What is the term for a covalent bond between deoxyribose and a purine base that undergoes a spontaneous reaction with water that releases the base from the sugar?

A

Apurinic Site

54
Q

What type of bases tend to create hot spots for mutation in Deamination?

A

Methylated Cytosine Bases

55
Q

What is the common, stable form of thymine and guanine?

A

The Keto form

56
Q

What is the form that thymine and guanine can interconvert into at a low rate?

A

The Enol form

57
Q

What is the common, stable form of adenine and cytosine?

A

The Amino form

58
Q

When must a mutation occur for a tautomeric shift to be the cause?

A

Prior to DNA replication

59
Q

What is an unusual form of mutation that causes several human genetic diseases called?

A

Trinucleotide Repeat Expansion (TNRE)

BIO360 - Genetics (3 decks)

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