Topic 8 Genetic Mutation Flashcards

1
Q

What is the definition of Genetic mutation?

A

The change in nucleotide sequences of gene or genome by natural or artificial means that result in change physical characteristics

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2
Q

What are the 2 cell types of mutation?

A

1) Germ Line mutation
2) Somatic Mutation

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3
Q

What is germ line mutation?

A

it is the changes in the DNA sequence of Gametes and is pass on to offspring

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4
Q

What is Somatic Mutation?

A

it is the changes in the DNA sequence of body cells and it manifest in the body. ( causes cancer)

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5
Q

what are 4 possible results of mutation?

A

1) Neutral condition/ No effect
2) Malfunction/ loss or gain function
3) Diseases/Disorders
4) Lethal effects

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6
Q

What are the 6 causes of mutation?

A

1) Error in DNA replication
2) Error in Cell Cycle Checkpoints
3) Error in DNA repair mechanism
4) Exposure to Radiation, Heavy Metals or Chemicals
5) Organisms like Pathogens and bacteria
6) Non-living things like viruses

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7
Q

What are the 3 Main types of Mutation?

A

1) Point mutation
2) Frameshift mutation
3) Exon skipping

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8
Q

What is Point Mutation?

A

it is the replacement/change in a single pair of nucleotide

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9
Q

What is Frameshift Mutation?

A

it is the insertion or deletion of 1 or more pairs of nucleotide

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10
Q

What is Exon Skipping?

A

it is the mutation of splicing acceptor sites DNA sequence which than causes undesired splicing of the exons

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11
Q

What is the meaning of denaturation?

A

it means lost of function

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12
Q

What are the 3 types of point mutation?

A

1) Silent Mutation
2) Missense
3) Nonsense

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13
Q

What is silent mutation?

A

it is when the nucleotide pair changes but does not change the protein codon and causes no change in function of the protein

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14
Q

What is missense?

A

it is when a nucleotide pair change and also changes the amino acid to another random one. (can have very serious consequences)

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15
Q

What is nonsense?

A

it is when the nucleotide pair change and affect the stop codons by either stopping it prematurely or making it go on longer.

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16
Q

What are the 4 points of frameshift mutation?

A

1) insertion or deletion of 1 or more nucleotide
2) causes an alteration of the reading frame
3) changes all amino acid sequence downstream which causes non functional protein
4) can cause shortening of mutant protein prematurely

17
Q

Why does exon skipping happen?

A

it is because of the changes in the splicing acceptor sites to an unrecognized sequence that the body cannot identify hence it will look for the next splicing acceptor site and splice off everything in between even if there is an exon

18
Q

What are the 2 Chemicals that alter the DNA structure

A

1) Psoralens
2) Peroxides

19
Q

What are the 3 types of Radiation that alters the DNA structure?

A

1) X-ray, Gamma ray and Cosmic ray
2) Radioactive Elements
3) UV radiation