Application of reproduction & genetics- Unit 4.5

Question 1

What were the aims of the human genome project? (5)

Answer 1

-Identify all genes & their loci in genome.
-Determine nucleotide sequence.
-Improve tools for data analysis.
-Address ethical/legal/social implications.
-Develop medical innovation. (medication/diagnosis/etc)

Question 2

What were the findings of the human genome project?

Answer 2

-Human genome contains 20,500 genes.
-Many repeated segments of DNA

Question 3

What were the benefits of the human genome project?

Answer 3

-More accurate diagnosis
-Development of medical treatments
-Can predict risk of disease by looking at allele sequences

Question 4

What is a disadvantage of the Sanger sequencing used in the human genome project?

Answer 4

Could only synthesise small sections of DNA at a time (took a year to do 1 mil) so NGS took over as it can produce an entire genome in a few hours.

Question 5

What is the 100k genome project?

Answer 5

Using NGS, the genomes of 100,000 NHS patients with cancer/rare diseases were studied. (and their families)