Genetics 6.1-6.3 Flashcards

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1
Q

What is a mutation?

A

A random change to the genetic material.

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2
Q

What is a gene mutation?

A

A random change to base sequence of a gene.

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3
Q

What is a mutagen?

A

A substance or radiation that can cause a mutation.

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4
Q

What is a triplet?

A

A set of the 3 bases in DNA.

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5
Q

What is a point mutation?

A

A substitution of one DNA nucleotide for another, changing the triplet.

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6
Q

What are the 3 types of point mutation?

A

Silent, missense, nonsense

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7
Q

What is a silent point mutation?

A

A change to the DNA base triplet sequence that has no effect on the amino acid sequence in a protein.

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8
Q

What is a missense point mutation?

A

A change to the DNA base triplet sequence that leads to a change in the amino acid sequence in a protein.

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9
Q

What is a nonsense point mutation?

A

A change to the DNA base triplet sequence resulting in a termination triplet that leads to a truncated protein.

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10
Q

What is an indel mutation?

A

Insertion or deletion of one DNA nucleotide causing a frameshift.

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11
Q

What is a frameshift?

A

A change to every DNA base triplet downstream of an indel mutation.

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12
Q

What is the main example of a transcription factor in prokaryotic cells?

A

lac operon

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13
Q

What is the function of the enzyme lactose permease?

A

Allows lactose to enter a bacterial cell.

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14
Q

What is the function of the enzyme beta-galactosidase?

A

Hydrolyses lactose into glucose and galactose.

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15
Q

What are the 4 components of the lac operon?

A

promoter, operator, lacZ structural gene, lacY structural gene

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16
Q

What is a structural gene?

A

A gene that codes for a functional protein.

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17
Q

What is a regulatory gene?

A

A gene that codes for a transcription factor.

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18
Q

What does the gene lacI code for?

A

Repressor protein

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19
Q

What does the gene lacZ code for?

A

Beta-galactosidase

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20
Q

What does the gene lacY code for?

A

Lactose permease

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21
Q

Where does the repressor protein bind in the lac operon?

A

Operator

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22
Q

Where does RNA polymerase bind in the lac operon?

A

Promoter

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23
Q

What is the inducer for the lac operon?

A

Lactose

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24
Q

What is the effect of lactose on the repressor protein?

A

Binds to the repressor protein, altering its shape and preventing it from binding to the operator region of the lac operon.

25
Q

What conditions are necessary for the lac operon to be switched off?

A

Glucose present, lactose absent

26
Q

What conditions are necessary for the lac operon to be switched on?

A

Glucose absent, lactose present

27
Q

What is an example of transcriptional gene regulation?

A

Transcription factors

28
Q

What are transcription factors?

A

Proteins or non-coding RNA that regulate the transcription of genes.

29
Q

What 2 areas do transcription factors bind to?

A

Promoters, enhancers

30
Q

What has happened if a transcription factor has repressed a gene?

A

The TF has attached to the promoter, preventing the attachment of RNA polymerase and expression of the gene.

31
Q

What has happened if a transcription factor has up-regulated a gene?

A

The TF has attached to the enhancer, aiding the attachment of RNA polymerase to the promoter and expression of the gene.

32
Q

What is an example of post-transcriptional gene regulation?

A

Maturing of mRNA through removal of introns.

33
Q

What is an intron?

A

A non-coding region of DNA / RNA.

34
Q

What is an exon?

A

A coding region of DNA / RNA.

35
Q

What is primary mRNA?

A

mRNA containing both introns and exons.

36
Q

What is mature mRNA?

A

mRNA containing only exons (introns have been removed).

37
Q

What is alternative splicing?

A

The joining of exons in a region of mRNA in different combinations resulting in one gene encoding more than one protein.

38
Q

What is an example of post-translational gene regulation?

A

Cyclic AMP (secondary messengers)

39
Q

What enzyme catalyses the formation of cyclic AMP from ATP?

A

Adenyl cyclase

40
Q

What activates a G protein?

A

A cell signal e.g. hormone.

41
Q

What activates adenyl cyclase?

A

G protein

42
Q

What activates protein kinase A (PKA)?

A

Cyclic AMP

43
Q

What is the function of protein kinase A (PKA)?

A

Activate enzymes / transcription factor proteins by phosphorylation.

44
Q

What is a homeotic gene?

A

A gene controlling the anatomical development of an animal, plant or fungus.

45
Q

What is a homeobox gene?

A

A gene controlling the anatomical development of an animal, plant or fungus.

46
Q

What is the homeobox sequence?

A

A sequence of 180 DNA base pairs found in all homeotic / homeobox genes.

47
Q

What is the homeodomain sequence?

A

A sequence of 60 amino acids encoded by the homeobox sequence.

48
Q

What is the secondary structure of the homeodomain sequence?

A

HTH - 2 alpha helices connected by a turn.

49
Q

Where does the homeodomain sequence bind to?

A

Enhancer

50
Q

What is a Hox gene?

A

A homeobox / homeotic gene found only in animals.

51
Q

What type of genes are homeotic / homeobox / Hox genes?

A

Regulatory

52
Q

How many Hox gene clusters are found in humans?

A

4

53
Q

What is meant by colinearity in embyronic development?

A

The expression of the Hox genes corresponds to the spatial & temporal development of the body part it encodes.

54
Q

What is apoptosis?

A

Programmed cell death

55
Q

How is apoptosis different to cell death due to trauma?

A

Apoptosis does not involve hydrolytic enzymes.

56
Q

What is a bleb?

A

A protusion from a cell early on in apoptosis.

57
Q

What are 4 cell signals that can induce apoptosis?

A

Cytokines, hormones, growth factors, nitric oxide

58
Q

What are 4 uses of apoptosis in plant and animal tissue development?

A

Separation of limbs and digits in embryonic development, removal of anti-self T/B lymphocytes, immune response to viral infection, prevent tumour growth