Lesson 8 Flashcards

Variations and Mutations

1
Q

It occurs when a DNA gene is damaged or changed in such way as to alter the genetic message carried by that gene

A

Mutation

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2
Q

Refers to the process of altering a DNA sequence

A

Mutate

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3
Q

Mutation range in magnitude from substitution of a single DNA base to ____

A

deletion/ duplication of bases and to/of entire chromosomes

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4
Q

Does mutation affect any part of the genome?

A

Yes, the sequences that encode proteins or control transcription, introns, repeats, and sites critical to intron removal and exon splicing

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5
Q

Refers to the phenotype and also describes an allele

A

Mutant

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6
Q

Are all DNA sequences likely to mutate?

A

NO

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7
Q

A Mutant’s nature depends upon _____

A

how the mutation affects the gene’s product/activity, and usually connotes an abnormal/ unusual characteristic

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8
Q

Can a mutant phenotype be normal?

A

Yes, it may also be a rare variant that is nevertheless “normal” (such as red hair)

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9
Q

Two kinds of Mutations

A

Germline and Somatic

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10
Q

What mutation is when the change occurs during the DNA replication that PRECEDES MEIOSIS?

A

Germline

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11
Q

The resulting gamete and all cells that descend after a Germline Mutation are (transmitted/not)

A

Transmitted to the next generation

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12
Q

What mutation happens during DNA replication BEFORE MITOSIS?

A

Somatic

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13
Q

How is a Somatic Mutation passed to the next generation?

A

All cells that descend from the original changed cell are altered but they might only compromise a small part of the body.

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14
Q

Effects of mutation

A

Vary

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15
Q

Mutations may ___

A

Impair function
Have no effect
Beneficial

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16
Q

Can stop or slow production of a protein, overproduce it, or impair the protein’s function (altering its secretion, location, or interaction w/ another protein)

A

Deleterious (harmful) mutation

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17
Q

When the gene’s product is reduced or absent

A

“loss-of-function”

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18
Q

When the gene’s activity changes

A

“gain-of-function”

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19
Q

What most mutations are

A

Recessive and cause a loss of function

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20
Q

When mutations tend to be dominant

A

“toxic”

21
Q

An agent of substance that can bring about a permanent alteration to the physical composition of a DNA gene such that the genetic message is changed

A

Mutagen

22
Q

Causes of Mutation

A

Chemical and Physical Mutagens

23
Q

Mutagen that changes the sequence of bases in a DNA gene in a number of ways

A

Chemical

24
Q

Chemical mutagenic agents

A
  1. Base analogs
  2. Alkylating agents
  3. Intercalating agents
  4. Metal ions
  5. Other chemical mutagens
25
Q

Chemicals like the bases of DNA or structurally resemble them
(bromouracil and aminopurine)

A

base analogs

26
Q

They add alkyl radical to the DNA and damages it (poison gas, vinyl chloride)

A

alkylating agents

27
Q

The molecules intercalate between the bases of DNA and disrupt its structure; can cause frameshift mutation; blocks transcription
(proflavine, acridine orange)

A

intercalating agents

28
Q

Work by producing reactive oxygen species, hindering the DNA repair pathway, causing DNA hypermethylation, or may directly damage the DNA
(nickel, iron, cobalt)

A

metal ions

29
Q

Can be sunlight or radiation

A

Physical mutagen

30
Q

It is high energy radiation from a radioactive material or from X-rays is absorbed by the atoms in water molecules surrounding the DNA

A

Radiation

31
Q

How does Radiation alter DNA?

A

High energy radiation from a radioactive material is transferred to the electrons leaving behind a free radical, which is highly dangerous and highly reactive molecule that attacks DNA molecule and alters it in many ways; it also cause double strand breaks (unrepairable)

32
Q

It contains ultraviolet radiation which, when absorbed by the DNA causes a cross link to form between certain adjacent bases

A

Sunlight

33
Q

Is Sunlight mutagen repairable?

A

In normal cases, yes. But unrepaired dimers of this sort can cause the replicating system to skip over (leaving a gap)

34
Q

This mutation occurs without exposure to any obvious mutagenic agent when DNA nucleotides shift without warning

A

Spontaneous mutation

35
Q

Three types of Mutations

A
  1. Point (least harmful)
  2. Frameshift (more serious/deadly)
  3. Expanding repeats (add stretches)
36
Q

A change in a single nitrogen base in a DNA sequence

A

Point Mutation

37
Q

When a base in a codon is changed, the amino acid won’t be affected, and mutation does not change the organism

A

Wobble effect

38
Q

What does a point mutation cause?

A

A change in a single amino acid of a protein that may alter the protein’s folding pattern

39
Q

Example of Point Mutation

A

Sickle cell anemia

40
Q

Types of Point Mutations

A
  • transition
  • transversion
  • missense
  • nonsense
  • silent
41
Q

Point mutation that replaces a purine with a purine or a pyrimidine with a pyrimidine

A

transition

42
Q

Point mutation that replaces purine with a pyrimidine and vice versa

A

transversion

43
Q

Point mutation that the change in a codon normally specifies a PARTICULAR amino acid into one that codes for a DIFFERENT amino acid

A

missense

44
Q

Point mutation that the change in a codon specifies an amino acid into a STOP (AUG, UAA, UGA)

A

nonsense

45
Q

Point mutation that a change in the sequence of nucleotide bases WITHOUT a subsequent change in the amino acid/ function of the overall protein

A

silent

46
Q

Only a single nitrogen base is affected (completely DELETED or an EXTRA one is inserted into the middle of the DNA sequence)

A

Frameshift Mutation

47
Q

How does a frameshift mutation alter the sequence?

A

The deletion or insertion causes the reading frame to shift, changing the three-letter codon sequence for mRNA to transcribe and translate

48
Q

Types of Frameshift Mutation

A
  1. Insertion (added in the middle)
  2. Deletion (nitrogen base is taken out)
49
Q

This mutation when a DNA repeats expand because they attract each other

A

Expanding repeats (trinucleotide repeat) Mutation