The Mutated Genome Flashcards

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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
Q

Do polymorphisms cause disease?

A

No, they increase disease risk

26
Q

What gene determines eye colour?

A

EYCL3 Gene on chromosome 15

27
Q

What is Pharmacogenetics?

A

Analysing people’s genotypes and phenotypes to change drugs, “Personalised medicine”

28
Q

Can mutations cause disease?

A

Yes

29
Q

Cystic fibrosis is most common in which ethnicity?

A

Caucasian

30
Q

Mutations are caused by?

A

Exposure to mutagens, a form of genotoxins, e.g. Red Meat, Burnt Toast

31
Q

What is are mutagens that affects developing foetus?

A

Teratogens, e.g. Thalidomide