1.5. Human Genomics Flashcards Preview

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Flashcards in 1.5. Human Genomics Deck (4):

What is bioinformatics?

The science of collecting and analysing the data resulting from the studies of the genome. It uses computer technology to identify DNA sequences.


What is systematics?

Using sequence data to provide information on the evolutionary relationships between humans and other species.


Discuss the pros and cons of personalised medicine.

Pros: If patient genotype could be related to the effects of the drug before treatment, this could maximise the benefits of the treatment by identifying who the medicine would be most beneficial for.

Cons: It is very difficult to tell whether a mutation is neutral or harmful.


What is PCR?

It stands for Polymerase Chain Reaction. It is used to produce billions of copies of a specific sequence of DNA. It is carried out in vitro and involves cycles of heating and cooling (thermal cycling).
The DNA is first denatured at 90 degrees which separates the strands, then the temperature goes down to below 60 degrees giving primers time to bind to the target sequence. The temperature is then raised to 70 degrees and DNA polymerase synthesises the new DNA strands. This process can be repeated several times to produce billions of copies.
PCR can help with DNA profiling.