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Reproduction ยป DNA and the Genome

What you'll learn this session

Study time: 30 minutes

AQA spec: 4.6.1.4

  • What DNA is and what its structure looks like
  • How DNA, chromosomes and genes fit together
  • What a genome is
  • Why understanding the human genome matters

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DNA: the genetic material

The genetic material in the nucleus of a cell is made of a chemical called DNA. Every instruction your cells need to build and run your body is stored in it.

DNA is a polymer. That means it is a very long molecule made of many smaller units joined together in a chain, a bit like a long string of beads. In DNA, there are two strands of these chains. The two strands twist around each other to form a double helix. You can picture it as a twisted ladder or a spiral staircase.

Key terms:

  • DNA: the chemical that makes up the genetic material in the nucleus of a cell.
  • Polymer: a long molecule made up of many smaller units joined together.
  • Double helix: the shape of DNA, two strands twisted around each other.

From DNA to genes

A DNA molecule is far too long to float around loose. It is contained in structures called chromosomes.

A gene is a small section of DNA on a chromosome. Think of a chromosome as a long book of instructions and each gene as one single instruction in it.

What does each instruction say? Each gene codes for a particular sequence of amino acids. Amino acids are joined together in that exact order to make a specific protein. So one gene holds the instructions for making one protein.

🧬 DNA

A polymer of two strands, twisted into a double helix.

📦 Chromosome

A structure in the nucleus that contains the DNA.

📄 Gene

A small section of DNA that codes for the amino acids of one protein.

Remember, you met chromosomes and genes when you studied how cells divide. Here the new idea is what a gene actually does: it tells the cell which amino acids to join, and in what order, to make a protein.

Why proteins matter

Proteins do many jobs in the body. Enzymes are proteins, for example. Different sequences of amino acids make different proteins, so the genes in your cells decide which proteins you can make.

The genome

The genome of an organism is the entire genetic material of that organism. It is all of the DNA, with all of its genes, in one complete set.

Every living organism has its own genome. The whole human genome has now been studied. Scientists have worked out all of the genetic material that makes a human being. This is expected to have great importance for medicine in the future.

Key terms:

  • Genome: the entire genetic material of an organism.

Why the human genome matters

You need to be able to discuss why understanding the human genome is important. There are three main reasons.

🔍 Finding disease genes

Scientists can search for genes that are linked to different types of disease.

🩹 Inherited disorders

Knowing the genes helps us understand inherited disorders and treat them.

🌍 Human migration

The genome can be used to trace the migration patterns of humans from the past.

Let us look at each one.

  • Searching for genes linked to disease. Scientists search the human genome for genes that are linked to different types of disease.
  • Understanding and treating inherited disorders. An inherited disorder is passed on in the genes from parents. If we know which gene is involved, we understand more about what has gone wrong and can work towards treating it.
  • Tracing human migration. Similarities and differences in the genomes of groups of people can be used to trace how humans moved around the world in the past.

Common mistakes

Do not say that a gene is a whole chromosome. A gene is only a small section of DNA on a chromosome. Do not say that the genome is just one gene. It is all of the genetic material. Do not write that a gene makes 'a trait' and stop there. Say that it codes for a sequence of amino acids to make a specific protein.

Worked example: describe, do not just name

Question: What is the relationship between DNA and a gene?
Weak answer: 'A gene is made of DNA.'
Strong answer: 'A gene is a small section of DNA on a chromosome. It codes for a particular sequence of amino acids to make a specific protein.'

Exam-style question

(a) Describe the structure of DNA. [2 marks]

(b) What is meant by the term genome? [1 mark]

(c) Give two reasons why it is important to understand the human genome. [2 marks]

Model answer

(a) DNA is a polymer made up of two strands (1) that form a double helix (1).

(b) The genome is the entire genetic material of an organism (1).

(c) Any two from: to search for genes linked to different types of disease (1); to understand and treat inherited disorders (1); to trace human migration patterns from the past (1).

Exam tip

In part (b), the word 'entire' matters. If you write only 'the genes of an organism' you may miss the mark, because the genome is all of the genetic material.

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