The Mutated Genome Flashcards

(31 cards)

1
Q

What is DNA’s role?

A

An information storage device

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2
Q

What does DNA store?

A

Information to make a human

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3
Q

What are the 4 nucleotides?

A

Cytosine, Guanine, Adenine, Thymine

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4
Q

How many chromosomes in humans?

A

46

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5
Q

What is the central dogma?

A

The flow of information from the DNA to the final protein

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6
Q

What does DNA get transcribed into?

A

RNA

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7
Q

What does RNA get processed into?

A

mRNA

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8
Q

What does mRNA get translated into?

A

A protein

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9
Q

Differences between DNA and RNA

A

DNA Double stranded, RNA single stranded
DNA has Thymine, RNA has Uracil
DNA has deoxyribose, RNA has Ribose

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10
Q

How are amino acids made?

A

3 Nucleotides combined

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11
Q

All proteins start with what 3 nucleotide code?

A

AUG, or Methionine

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12
Q

All proteins stop with what 3 nucleotide series?

A

UAA, UAG, UGA

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13
Q

How many genetic differences are there from person to person?

A

15 million

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14
Q

What are single based substitutions?

A

Where one nucleotide is swapped for a different one

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15
Q

What does a silent substitution do?

A

A nucleotide is changed but the amino acid doesn’t change

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16
Q

What does a Missence substitution do?

A

A nucleotide is changed and the amino acid changes

17
Q

What is a nonsense substitution?

A

A nucleotide is changed and it codes for a stop codon

18
Q

What are indels?

A

Where a nucleotide is inserted or deleted from DNA, effecting the reading frame

19
Q

What is Monosomy?

A

Loss of a chromosome

20
Q

What is Trisomy?

A

An extra chromosome

21
Q

What is Tetrasomy?

A

Two extra chromosome

22
Q

What is Haploidy?

A

Losing an entire chromosome set, having 23 total

23
Q

What is Diploidy?

A

Having two sets of chromosomes, having 46 total

24
Q

What is Triploidy?

A

Having 3 sets of chromosomes, having 69 total

25
Do polymorphisms cause disease?
No, they increase disease risk
26
What gene determines eye colour?
EYCL3 Gene on chromosome 15
27
What is Pharmacogenetics?
Analysing people's genotypes and phenotypes to change drugs, "Personalised medicine"
28
Can mutations cause disease?
Yes
29
Cystic fibrosis is most common in which ethnicity?
Caucasian
30
Mutations are caused by?
Exposure to mutagens, a form of genotoxins, e.g. Red Meat, Burnt Toast
31
What is are mutagens that affects developing foetus?
Teratogens, e.g. Thalidomide