Genetics 7 (Genomic Medicine Future) Flashcards
1
Q
How many base pairs are there in the complete human genome?
A
6 billion
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
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
4
Q
What are 2 syndrome examples of uniparental disomy?
A
- Praeder Willi Syndrome
- Angelman Syndrome
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
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
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
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
