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GCSE/Biology/AQA

B6.2DNA and the genome: structure of DNA, the human genome project and its uses

Notes

DNA and the genome

Every inherited trait — eye colour, blood group, lactose tolerance, predisposition to disease — is encoded in DNA. Understanding the structure of DNA is the foundation for genetics, genetic engineering and modern medicine.

What DNA is

DNA (deoxyribonucleic acid) is the chemical that makes up the chromosomes in the nucleus of every cell. It is a polymer made of two strands twisted into a double helix.

A gene is a short section of DNA that codes for a particular sequence of amino acids to make a specific protein. The sequence of bases in the gene is the genetic code.

A genome is the entire genetic material of an organism. The human genome has roughly 20,000 genes spread across 23 pairs of chromosomes.

Chromosomes

  • Found in the nucleus (in eukaryotes) — coiled lengths of DNA wound around proteins.
  • Humans have 23 pairs = 46 in total.
  • One pair (the sex chromosomes, XX or XY) determines biological sex.

The Human Genome Project (HGP)

The HGP (1990–2003) was an international project to read the entire base sequence of human DNA.

Why is this important? Three big uses regularly examined:

  1. Search for genes linked to disease. Identifying mutations that cause inherited disorders (e.g. cystic fibrosis, breast cancer risk via BRCA1/2) supports genetic testing and counselling.
  2. Understanding inherited disorders. Knowing the gene and protein affected helps researchers design targeted treatments and gene therapies.
  3. Tracing human migration patterns from the past. Comparing genomes across populations reveals how humans spread out of Africa.

Other uses (good extension answers): personalised medicine (matching drugs to a patient's genome), forensic science (DNA profiling) and paternity testing.

Concerns

  • Privacy of genetic information (insurers, employers).
  • Discrimination based on genetic risk.
  • Psychological impact of knowing you carry a high-risk allele.
  • Cost and access — not everyone can afford genome testing.

DNA structure (preview, full detail in B6.3 HT)

DNA is a polymer made of repeating units called nucleotides, each containing a sugar, a phosphate and one of four bases (A, T, C, G). The two strands are held together by base pairing: A always pairs with T, and C always pairs with G. This complementary pairing is the key to DNA replication and protein synthesis.

Mitochondrial DNA (extension)

Mitochondria contain a tiny separate genome inherited only from the mother — used in evolutionary studies and to track maternal lineages.

Common mistakes

  • Saying DNA is a single strand. It's a double helix.
  • Confusing "gene", "DNA" and "chromosome". A gene is a section of DNA; a chromosome is a long coiled molecule of DNA containing many genes.
  • Saying the genome is "all our genes". It's all the DNA — including the non-coding regions, which actually make up most of it.
  • Saying every cell has a different genome. All body cells have the same genome (with rare mutations); they only express different genes in different tissues.

Links

Foundation for B6.3 (HT — full DNA structure and protein synthesis), B6.4 (inheritance), B6.5 (mutation as source of variation), and B6.7 (genetic engineering).

AI-generated · claude-opus-4-7 · v3-deep-biology

Practice questions

Try each before peeking at the worked solution.

  1. Question 12 marks

    Define gene (F)

    (F1) What is a gene?

    [Foundation — 2 marks]

    Ask AI about this

    AI-generated · claude-opus-4-7 · v3-deep-biology

  2. Question 21 mark

    Define genome (F)

    (F2) What is meant by the genome of an organism?

    [Foundation — 1 mark]

    Ask AI about this

    AI-generated · claude-opus-4-7 · v3-deep-biology

  3. Question 32 marks

    DNA shape (F)

    (F3) Describe the basic structure of DNA.

    [Foundation — 2 marks]

    Ask AI about this

    AI-generated · claude-opus-4-7 · v3-deep-biology

  4. Question 43 marks

    HGP uses (F/H)

    (F/H4) Give three ways in which knowledge of the human genome has been useful.

    [Crossover — 3 marks]

    Ask AI about this

    AI-generated · claude-opus-4-7 · v3-deep-biology

  5. Question 52 marks

    HGP concerns (H)

    (H5) Discuss one ethical concern about widespread genome testing.

    [Higher tier — 2 marks]

    Ask AI about this

    AI-generated · claude-opus-4-7 · v3-deep-biology

  6. Question 62 marks

    Chromosomes counting (F)

    (F6) How many chromosomes does a normal human (a) body cell and (b) gamete contain?

    [Foundation — 2 marks]

    Ask AI about this

    AI-generated · claude-opus-4-7 · v3-deep-biology

  7. Question 73 marks

    Why same DNA different cells (H)

    (H7) Every body cell in a person has the same DNA, yet a liver cell looks and behaves very differently from a nerve cell. Suggest how this is possible.

    [Higher tier — 3 marks]

    Ask AI about this

    AI-generated · claude-opus-4-7 · v3-deep-biology

Flashcards

B6.2 — DNA and the genome

10-card SR deck on DNA, genes, chromosomes and the Human Genome Project.

10 cards · spaced repetition (SM-2)