Human genomics Flashcards

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
What is a sequence data?
The DNA base sequence within a genome
26
Describe the bases of personalised medicine
An individual's genome may be analysed: and drug therapy matched to the genome to gain the best outcome from treatment
27
Describe the effect on an increase in temperature on the structure in step 1 of PCR
Double helix split apart/ denatured
28
Explain why the DNA polymerase used in step 3 of PCR can function at 70 although the temperature would denature most enzymes?
Enzymes derives from bacteria from hot springs adapted to high temperatures
29
State the number of DNA molecules that would be present after one molecule of DNA has passed through seven cycles of PCR
128 molecules
30
Describe one application of the PCR procedure
amplifying DNA from crime scenes
31
What is genomic sequencing?
The sequence of nucleotide bases that can be determined for individuals genes and entire genomes
32
What is the genome of an organism?
Its entire hereditary information encoded in its DNA