This higher tier covers Higher The Human Genome Project and Its Applications within DNA Genome for GCSE Biology. DNA structure, function, and the human genome It is section 12 of 15 in this topic. This section is most useful once the core foundation idea is secure, because it adds the detail that pushes answers higher.
Higher The Human Genome Project and Its Applications
The Human Genome Project (completed 2003) was an international collaboration that sequenced all 3.2 billion base pairs of human DNA. Key outcomes and applications include:
- Disease gene identification: Thousands of genes linked to conditions such as breast cancer (BRCA1/2), Huntington's disease, and cystic fibrosis have been mapped, enabling genetic testing and risk assessment.
- Personalised medicine: Knowing a patient's genome allows doctors to select treatments that will be most effective for their particular genetic profile (pharmacogenomics).
- Evolutionary relationships: Comparing human genome sequences with those of other species reveals shared ancestry — humans share approximately 99% of their DNA with chimpanzees and around 60% with fruit flies.
- Ethical considerations: Genome data raises questions about genetic privacy, insurance discrimination, and the ethics of genetic selection. These are areas of ongoing debate in bioethics.
Practice questions for DNA Genome
Which of the following base pairing rules is correct for DNA?
What are the four nitrogenous bases found in DNA?
Quick recall flashcards
What is an allele?
A different version of the same gene. For example, the gene for eye colour has alleles for brown eyes and blue eyes. Alleles arise due to mutations in the original gene.
What is a gene?
A section of DNA that codes for the production of a specific protein. The sequence of bases in the gene determines which protein is made.