Genetics 7 (Genomic Medicine Future) Flashcards

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1
Q

How many base pairs are there in the complete human genome?

A

6 billion

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2
Q

What are two examples of diseases for which DNA sequencing has been used to find the mutations responsible

A
  • Miller Syndrome

- Schinzel-Giedeon Syndrome

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3
Q

What is uniparental disomy?

A

2 copies of a chromosome received, or no part of a chromosome, from one parents and no copies from the other

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4
Q

What are 2 syndrome examples of uniparental disomy?

A
  • Praeder Willi Syndrome

- Angelman Syndrome

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5
Q

What are the features of Sanger Sequencing?

A
  • long read length (450bp)
  • 1 sequence produced at a time
  • requires a lot of start-up DNA
  • high cost per base
  • polymerase errors average out
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6
Q

What are the features of Next Generation Sequencing (NGS)?

A
  • short read length
  • millions of fragments sequenced in single run
  • fast turnaround time
  • lower cost per sample
  • less accurate overall
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7
Q

What is the process of NGS?

A
  • DNA extraction and fragmentation
  • adaptors attachement
  • desired fragments captured and undesired fragments washed out
  • PCR amplification and parallel sequencing of fragments
  • alignment of DNA to reference sequence
  • reconstruction of patient’s DNA sequence
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8
Q

What is the principle of a DNA test?

A
  • DNA isolation
  • PCR (amplification) and digestion if required
  • visualisation of result on agarose gel
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