8.3.1 Genome Sequencing Projects

What Are Genome Projects?

Genome sequencing projects determine the entire DNA sequence of an organism. This includes reading the genetic code for both coding and non-coding regions.

In simple organisms, determining the genome allows scientists to predict the proteins (proteome) the organism can produce.
In complex organisms, such as humans, the presence of non-coding DNA and regulatory genes makes it harder to determine the full proteome.

Key Applications of Genome Projects

Medical Applications:

Identification of potential antigens for vaccine development.
Detection of mutations linked to diseases (e.g., Huntington's disease).
Creation of personalised medicine tailored to an individual's genome.

Evolutionary Studies:

Comparison of genomes across species to determine evolutionary relationships.

Synthetic Biology:

Prediction of amino acid sequences in proteins, enabling the design of synthetic molecules or biological systems.

Genetic Screening:

Screening for mutated sequences, genetic carriers, and disorders such as cystic fibrosis or sickle cell anaemia.
Pre-implantation genetic diagnosis (PGD) in embryos during IVF treatment.

The Human Genome Project

The Human Genome Project (HGP) was an international scientific endeavour to sequence the entire human genome.

Achievements:
- Successfully determined the sequence of human DNA.
- Provided insight into genetic diseases and potential therapies.
Potential Uses:
- Early detection of genetic diseases before symptoms appear.
- Development of targeted treatments based on a person's genetic makeup.
Ethical Issues:
- Risk of genetic discrimination in employment or insurance.
- Concerns over ownership and misuse of genetic information.
- Questions about whether genetic testing could lead to eugenics.

Benefits of Genome Sequencing

Personalised Medicine:

Allows treatments to be tailored to individual genetic profiles, improving effectiveness.

Antigen Discovery:

Aids in vaccine production, especially against rapidly evolving pathogens.

Understanding Proteomes:

Helps identify proteins crucial for biological processes or linked to disease.

Research Advancements:

Facilitates study of genes responsible for specific traits or diseases.

infoNote

Exam Tip

Make sure to differentiate between genome (entire DNA sequence) and proteome (all proteins produced by an organism).
Be prepared to discuss both applications and ethical issues of genome projects, especially using examples like the Human Genome Project.

Genome Sequencing Projects Simplified Revision Notes for A-Level AQA Biology