Human genomics Flashcards

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1
Q

What is a genome?

A

Is the the genetic information that is encoded into its DNA and can be inherited by its offspring . The DNA sequences in genes and non coding regions

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2
Q

what is a genome made up of?

A

The genes that code for proteins and other DNA sequences that do not code for proteins

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3
Q

What is required to analyse DNA sequence

A

Bioinformatics- It involves computer and statistical analysis

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4
Q

What does systematics do?

A

It compares human genome sequence data and the genomes of other species to provide information on evolutionary relationship and origins

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5
Q

What is personalised medicine based on?

A

An individual’s genome

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6
Q

What does PCR stand for?

A

Polymerase Chain Reaction

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7
Q

What is PCR?

A

It’s a laboratory technique for the amplification of DNA

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8
Q

What primers does PCR use?

A

Complementary to specific target sequences at the two ends of the DNA region to be amplified

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9
Q

What happens in PCR when it’s heated?

A

It separates the two strands of the DNA to be amplified

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10
Q

What happens when PCR is cooled?

A

The primers then bind to target sequence

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11
Q

What does taq polymerase do?

A

It replicates the region of DNA that has been primed

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12
Q

Why is cooling and heating cycles repeated?

A

To amplify the region of DNA

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13
Q

What are DNA probes?

A

They are short, single-stranded fragments of DNA

They are complementary to a specific DNA sequence

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14
Q

What are the arrays of DNA probes used to detect?

A

The presence of specific specific sequences in strands of DNA

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15
Q

what does a cycle of PCR do?

A

It doubles the number of copies of a region of DNA

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16
Q

How can fragments of DNA be separated

A

Gel electrophoresis

17
Q

How can individuals be identified in DNA profiling?

A

Through comparison of regions of their genome, which have variable numbers of repetitive DNA sequences

18
Q

Steps of PCR

A

1) Temperature increased to 95 to separate strands
2) Primers anneal at 50-60 to bind to target sequence
3) 72 for heat tolerant DNA polymerase to replicate the region of DNA
4) Repeat 3 stages again

19
Q

What do the small molecules do in gel electrophoresis ?

A

They move fast

20
Q

What do the large molecules do in gel electrophoresis

A

They move slowly

21
Q

Where does the DNA move to?

A

The positive electrode and so has a negative charge

22
Q

What is gel electrophoresis?

A

Separation of DNA fragments

23
Q

How can you analyse and predict the likelihood of developing certain diseases?

A

By an individual’s genome

24
Q

What can PCR be used for?

A

It can amplify DNA to help solve crimes, settle paternity suits and diagnose genetic disorders

25
Q

What is a sequence data?

A

The DNA base sequence within a genome

26
Q

Describe the bases of personalised medicine

A

An individual’s genome may be analysed: and drug therapy matched to the genome to gain the best outcome from treatment

27
Q

Describe the effect on an increase in temperature on the structure in step 1 of PCR

A

Double helix split apart/ denatured

28
Q

Explain why the DNA polymerase used in step 3 of PCR can function at 70 although the temperature would denature most enzymes?

A

Enzymes derives from bacteria from hot springs adapted to high temperatures

29
Q

State the number of DNA molecules that would be present after one molecule of DNA has passed through seven cycles of PCR

A

128 molecules

30
Q

Describe one application of the PCR procedure

A

amplifying DNA from crime scenes

31
Q

What is genomic sequencing?

A

The sequence of nucleotide bases that can be determined for individuals genes and entire genomes

32
Q

What is the genome of an organism?

A

Its entire hereditary information encoded in its DNA