BiologyAdvanced20 min read

Chromosomes & DNA

The structure of DNA, how it copies itself, and how it codes for proteins

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01

The structure of DNA

DNA (deoxyribonucleic acid) is the molecule that stores genetic information. It is a double helix — two strands twisted together — built from units called nucleotides, each a sugar, a phosphate and one of four bases: adenine (A), thymine (T), guanine (G) and cytosine (C). The two strands are held together by the bases, which pair by a strict rule: A always pairs with T, and G with C (complementary base pairing).

A gene is a length of DNA that codes for one protein; DNA is packaged with protein into chromosomes in the nucleus.

02

DNA replication

Before a cell divides it must copy its DNA. The double helix unzips as the base pairs separate, and each old strand acts as a template: free nucleotides pair up against it by the base-pairing rules, building a new complementary strand. The result is two identical DNA molecules, each with one old and one new strand — this is called semi-conservative replication, and it ensures each daughter cell gets an exact copy.

Base pairing is the key

Because A only pairs with T and G only with C, one strand exactly specifies the other. That single rule is what lets DNA be copied faithfully and read to make proteins.

03

The genetic code and protein synthesis

The sequence of bases is a code: each group of three bases (a triplet, or codon) specifies one amino acid. To make a protein, the gene is first copied into a messenger molecule, RNA (transcription), which carries the code out of the nucleus to a ribosome. There the code is read three bases at a time and the matching amino acids are joined in order (translation) to build the protein.

So the order of bases in a gene sets the order of amino acids in a protein — and hence the protein's shape and job.

04

Mutations

A mutation is a change in the base sequence of DNA. It may have no effect, or it may change an amino acid and so the protein — sometimes harmfully (causing disease), occasionally usefully (providing variation for evolution). Mutations happen naturally at a low rate, but their frequency is raised by mutagens such as ionising radiation, ultraviolet light and some chemicals.

05

A worked example

Worked example

One strand of DNA reads T-A-C-G-G-A. Write the sequence of the complementary strand, and explain how you worked it out.

  1. Apply the base-pairing rules: A pairs with T, G pairs with C.Bases pair only in these fixed combinations.
  2. T→A, A→T, C→G, G→C, G→C, A→T.Replace each base with its partner.
  3. So the complementary strand is A-T-G-C-C-T.Reading off each paired base.

A-T-G-C-C-T — found by pairing A with T and G with C along the given strand.

06

DNA technology and genetic engineering

Understanding DNA lets us work with it directly. Special enzymes cut DNA at exact sequences, so a useful gene can be removed and inserted into another organism's DNA — the basis of genetic engineering (as when bacteria are given the human insulin gene). The polymerase chain reaction (PCR) makes millions of copies of a tiny DNA sample, and DNA profiling reads the pattern of an individual's DNA — used in forensic science and to check relationships. All of it rests on the base-pairing rules.

07

The genome and genetic screening

An organism's complete set of DNA is its genome, and the entire human genome has now been sequenced. This makes genetic screening possible — testing a person's DNA for alleles that cause inherited disorders, whether before birth, in newborns, or to assess the risk to future children (genetic counselling). The power to read our own genetic information brings clear medical benefits but also ethical questions about privacy, insurance and how the information is used.

PCR: a molecular photocopier

PCR repeatedly copies a chosen stretch of DNA, doubling it each cycle, so a trace amount — from a crime scene or a single cell — becomes enough to analyse.

Practice questions

4 questions · 16 marks · full working on every one

Try each one on paper first, then open the working. The marks are shown where they are actually awarded, because that is where they are actually lost.

Short questions

2 · 5 marks

Two marks each, in the style of the short-question section of the paper. Answer in two or three lines.

SQ1[3 marks]
Describe the structure of a DNA molecule.
Model answer

DNA is a double helix of two strands. Each strand is made of nucleotides (sugar, phosphate and a base). The strands are held together by base pairs, with adenine pairing with thymine and guanine with cytosine.

Examiner tip. Mention double helix, nucleotides, and the base-pairing rules.

SQ2[2 marks]
Explain how enzymes are used in genetic engineering to transfer a gene.
Model answer

Enzymes cut DNA at specific base sequences, so the desired gene can be cut out of one organism's DNA and (using enzymes to join it) inserted into another organism's DNA, which then expresses the gene.

Examiner tip. Enzymes cut the gene out and paste it in.

Long questions

2 · 11 marks

Theory and numerical together, as they appear in the long-question section.

LQ1[6 marks]
DNA carries the instructions for making proteins and is copied before cell division.
  1. Explain how DNA is replicated. [3]
  2. Explain how the base sequence of a gene determines the protein made. [3]
Mark scheme
  1. The DNA double helix unzips as the base pairs separate[1]
  2. each old strand acts as a template[1]
  3. free nucleotides pair against it (A–T, G–C) forming two identical molecules[1]
  4. Each triplet of three bases codes for one amino acid[1]
  5. the gene is copied into RNA and read at a ribosome[1]
  6. amino acids are joined in the order set by the bases, giving the protein its structure[1]

Replication: unzip, template, pair nucleotides (semi-conservative); protein: triplets code amino acids, transcribed to RNA, translated at a ribosome.

Examiner tip. Base pairing drives both faithful copying and accurate coding.

LQ2[5 marks]
Modern biology can read and copy DNA.
  1. State what PCR does and one use of it. [2]
  2. Explain one benefit and one ethical concern of genetic screening. [3]
Mark scheme
  1. PCR makes many copies of a small DNA sample[1]
  2. used in forensics / DNA profiling / research (any one)[1]
  3. Benefit: it can detect disorder-causing alleles early[1]
  4. allowing treatment, informed choices or genetic counselling[1]
  5. Concern: privacy of the information / possible misuse (e.g. by insurers) / difficult decisions[1]

PCR amplifies DNA (used in forensics); screening detects disorders early (benefit) but raises privacy/misuse concerns.

Examiner tip. Give a concrete use for PCR and balance a benefit against a concern for screening.