2.11 Frontiers of Human Genetics

Question 1

What is the Human Genome project?

Answer 1

Question 2

What happens to the bases in Sanger sequencing?

Answer 2

• Use bases that terminate polymerisation because they lack a 3’ OH

Question 3

What does the incorporation of ddNTPs do to the polymerisation?

Answer 3

Question 4

How does running the ddNTPs on a gel reveal the base sequence?

Answer 4

• When these four reactions are run on a gel every possible truncation is possible
• The position on the gel depends on the size of the molecule
• It is possible to read off the sequence by going from the bottom (shortest) to top (longest)

Question 5

How can the gene sequence be read automatically?

Answer 5

• By labelling the 4 di-deoxyribonucleotides with 4 different coloured fluorescent dyes and running them in a 1D capillary, one can automatically read the fluorescence with a camera and a computer
• 800-1000 bp of sequence per run
• Key enabling technology for the human genome project

Question 6

What is exome sequencing?

Answer 6

Only exons or protein coding genes are sequenced. Quicker and cheaper than whole genome sequencing. Isolation methods are based on libraries of 100,000s of oligonucleotide sequences that allow exon DNA to be isolated

Question 7

What is this?

Answer 7

• minION personal sequencer
• Protein nanoball which is inserted into electrically resistant membrane
• single stranded DNA pulled through aperture of nanoball

Question 8

What is gene therapy?

Answer 8

Use of recombinant DNA to treat a disease or disorder by altering the genetic makeup of the patients cells

Question 9

What is used to carry out gene therpay?

Answer 9