Application of reproduction and genetics (C2)

Question 1

What was the intended purpose of the Human Genome and 100k projects?

Answer 1

intended purpose of the Human Genome and 100K
Projects:
- improve knowledge and understanding of genetic disorders
- improve their diagnosis
- improve treatment

Question 2

What method was originally used for the human genome project, disadvantages? new method, advantages? outcomes?

Answer 2

the Human Genome Project:
• used ‘Sanger Sequencing’ originally which sequences relatively small sections of DNA at a time (usually <1,000 bps) - this process took a long time

• new techniques e.g. Next Generation Sequencers (NGS) can sequence an entire genome in just
a few hours - enabling scientists to study variation
within the human genome

Question 3

What is the 100k genome project? What did it enable?

Answer 3

using next generation sequencers (NGS) scientists sequenced 100 000 peoples genomes in the U.K - this is known as the 100K genome project

• locate genes responsible for rare diseases and cancers
• locate mutated genes
• compare genomes
• develop treatments for genetic disorders
• prenatal diagnosis for genetic disorders

Question 4

What are the ethical issues surrounding the use of genome knowledge?

Answer 4

• ownership of genetic information leading to discrimination e.g health insurance, job applications,
• social stigmatisation
• misuse of the data