Mutations Flashcards

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1
Q

Define evolution.

A

The change in characteristics of a species overtime.

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2
Q

Define Genotype.

A

The genetic makeup of an organism.

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3
Q

Define phenotype.

A

The observable characteristics in an individual resulting from the expression of genes.

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4
Q

Define population.

A

A group of organisms of the sam e species living together in a particular place at a particular time.

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5
Q

Define gene pool.

A

The grouping of genotypes and the sum of all alleles in a given population.

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6
Q

Define allele frequencies.

A

Is how common an allele is in a given population.

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7
Q

What are the two types of mutations?

A
  1. Gene mutations
  2. Chromosomal mutations
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8
Q

What are mutations?

A

Are changes in the DNA sequence of an organism.

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9
Q

What are gene mutations?

A

Change in a single gene so that the traits normally produced by that gene are destroyed or changed.

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10
Q

What are chromosomal mutations?

A

All or part of a chromosome is affected. A mutation involving a long segment of DNA or chromosomes. It can occur when the number of chromosomes increases or decreases in a genome as well as when chromosome structure change occurs.

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11
Q

What are the causes of mutations?

A

Mutagenic agents or mutagens.

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12
Q

What are 5 examples of mutagens/mutagenic agents?

A
  1. Mustard gas
  2. Formaldenyde
  3. Sulfur dioxide
  4. Some antibiotics and ionizing radiation (UV + X-rays)
  5. Radiation
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13
Q

What are induced mutations?

A

Are caused by mutagens.

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14
Q

What are spontaneous mutations?

A

They are random errors in meiosis or mitosis.

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15
Q

What are the 4 classifications of mutations?

A
  1. Cause of the mutation.
  2. Heritability of the mutation.
  3. Effect of mutations.
  4. Extent of the mutation.
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16
Q

What do you talk about in terms of the cause of a mutation?

A

Whether its induced or sponatanous.

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17
Q

What do you talk about in terms of the heritability of a mutation?

A

Whether it is a somatic or germline mutation.

18
Q

What do you talk about in terms of the effect of a mutation?

A

Whether it is a missense, nonsense, neutral or silent mutation.

19
Q

Describe somatic mutations.

A

These mutations cannot be passed into offspring. Only tissues derived from the mutated cell are affected.

20
Q

What is an example of somatic mutations?

A

Cancer.

21
Q

Describe germline mutations.

A

Occur in gametes and can be passed onto offspring. Every cell in the entire organsim can be affected.

22
Q

What is an example of germline mutations?

A

PKU preventing the breakdown of the amino acid phenylalanine.

23
Q

What is a point mutation?

A

Are changes in a single base pair usually during DNA replication.

24
Q

What are the 4 types of point mutations?

A
  1. Missense
  2. Nonsense
  3. Neutral
  4. SIlent
25
Q

What are missense mutations?

A

Cause a change in the amino acid and therefore the protein.

26
Q

What are nonsense mutations?

A

Change in the base sequence to code for a stop codon. This means the synthesis of the protein will stop, so a shorter protein will be produced that will not fulfil its function.

27
Q

What are neutral mutations?

A

Cause a change in the amino acid but it is of the same type which does not change the structure of the protein and its function.

28
Q

What are silent mutations?

A

Does not cause a change in the amino acid and therefore the protein is produced.

29
Q

What causes point mutations?

A

Due to nucleotides being -
1. Inserted - a new nucleotide is added.
2. Deleted - a nucleotide is removed from the DNA strands.
3. Substituted - An existing nucleotide is replaced with another one.

30
Q

What causes frameshift mutations?

A

Insertions and deletions.

31
Q

What are frameshift mutations?

A

Occur when a base is inserted or deleted and this changes the reading frame of DNA codons.

32
Q

What causes missense, nonsense, neutral and silent mutations?

A

Substitutions.

33
Q

What causes chromosomal mutations?

A
  1. Errors during mitosis, meiosis or fertilisation.
  2. Mutagens.
34
Q

What are the 4 types of chromosomal mutations?

A
  1. Duplication.
  2. Deletion.
  3. Inversion.
  4. Translocation.
35
Q

What is duplication?

A

A section of chromosomes occur twice.

36
Q

What is a deletion?

A

A section of DNA is removed.

37
Q

What is an inversion?

A

A break in the chromosome occurs and then is reattached the wrong way.

38
Q

What is translocation?

A

Part of the chromosome breaks off and reattaches to the wrong chromosome.

39
Q

What is non-disjunction?

A

During meiosis a chromosome pair does not separate and so one daughter cell has an extra chromosome and one daughter cell has one less than the normal number.

40
Q

What is non-disjunction also referred to as?

A

Aneuploidy.