Choose how you work — type your answers below or write in your book.

Biology Year 12 Module 5 Lesson 17

DNA Sequencing and DNA Profiling

DNA sequencing and DNA profiling are related technologies, but they answer different questions. Sequencing tells us the order of bases. Profiling compares patterns at selected DNA regions to infer similarity, difference and inheritance links in populations.

40 min IQ5 Population genetics 5 MC | 3 Short Answer Lesson 17 of 19
DNA
Printable worksheet

Download this lesson's worksheet

Use the PDF for classwork, homework or revision. It includes key ideas, activities, questions, an extend task and success-criteria proof.

Prediction

Think First

A student says, "DNA profiling and DNA sequencing are basically the same thing because both use DNA. If you have a DNA profile, you already know the exact base order of the whole genome."

Before reading on, explain why that statement is weak. What does sequencing determine that profiling usually does not?

Key Terms
DNA sequencingDetermining the order of nucleotide bases in a DNA sequence.
DNA profilingComparing patterns at selected DNA regions to distinguish or relate samples.
Base orderThe exact sequence of A, T, C and G nucleotides in DNA.
Marker regionA selected DNA region used in comparison rather than full genome reading.
RelatednessThe degree of genetic similarity that can suggest inheritance connections.
Population structurePatterns of genetic similarity and difference within and between groups.

Know

  • What DNA sequencing determines.
  • What DNA profiling compares.

Understand

  • Why sequencing and profiling answer different biological questions.
  • How both technologies help infer inheritance patterns in populations.

Be Able To

  • Distinguish base-order determination from pattern matching.
  • Explain why these tools matter beyond a narrow forensic context.
1
Technology 1

DNA sequencing determines the order of bases

Sequencing asks: what is the exact nucleotide order in this DNA region or genome?

If the sequence is known, specific mutations, SNPs and gene variants can be identified directly. This is powerful for investigating inherited disorders, comparing species, and analysing how populations differ at the DNA level.

Unknown DNA A T G C C A T G G T A C Sequencing output exact base order read
Sequencing provides the base order itself, not just a comparison pattern.
Use
Because sequencing gives actual base order, it can identify the presence of specific mutations or inherited variants linked to disease risk or evolutionary relationships.
2
Technology 2

DNA profiling compares selected DNA patterns

DNA profiling does not normally read the full base order of the whole genome. Instead, it compares patterns at selected DNA regions that vary between individuals. This allows samples to be distinguished or matched more efficiently.

What it compares

Patterns in selected marker regions rather than the entire genome sequence.

What it can show

Similarity, difference, and possible inheritance relationships between samples.

What it does not do

It does not automatically reveal the exact complete base order for the whole genome.

Trap
Do not say a DNA profile is the same as a full genome sequence. Profiling is pattern comparison at selected regions, not full base-order determination.
3
Key Distinction

Sequencing and profiling answer different questions

DNA sequencing

  • Determines nucleotide order
  • Can identify specific mutations or SNPs directly
  • Useful for variant discovery and detailed comparison

DNA profiling

  • Compares selected DNA patterns
  • Useful for matching or distinguishing samples
  • Supports inference about relatedness or inheritance links

Both technologies can contribute to understanding inheritance patterns in populations, but the strength of the conclusion depends on what data was collected. Sequencing offers more direct molecular detail. Profiling offers efficient comparison at specific markers.

4
Module 5 Focus

These technologies help infer population inheritance patterns

For Module 5, the important idea is not a narrow forensic storyline. The important idea is how these tools are used to investigate inheritance across groups.

Disease inheritance

  • Sequencing can identify inherited variants linked to disease.
  • Profiling can help compare related samples or lineages.

Relatedness and structure

  • Sequencing and profiling can reveal similarities and differences between populations.
  • Patterns help infer relatedness trends, not absolute certainty from one sample alone.
Boundary
Keep the emphasis on inheritance patterns, population structure and disease/disorder inheritance. Do not reduce the lesson to crime-scene examples only.
5
Worked Reading

How to answer a sequencing-versus-profiling question

Step 1

Identify what information the technology produces.

Step 2

State whether it determines exact base order or compares marker patterns.

Step 3

Link the technology to inheritance patterns, relatedness or disease studies.

Step 4

Keep the conclusion matched to what the technology can really show.

Copy Into Your Books +

DNA sequencing

DNA sequencing determines the exact order of nucleotide bases in a DNA sequence.

DNA profiling

DNA profiling compares patterns at selected DNA regions to distinguish or relate samples.

Main difference

Sequencing reads base order directly, while profiling matches or compares marker patterns.

Biological importance

Both technologies help investigate inheritance patterns in populations, including relatedness and inherited disease risk.

Revisit Your Initial Thinking

Look back at what you wrote in the Think First section. What has changed? What did you get right? What surprised you?

Activities

Activity 1: Sort the technology

For each statement below, decide whether it matches DNA sequencing or DNA profiling:

a) determines the base order of a gene

b) compares selected marker patterns between samples

c) can identify a specific inherited base change directly

Activity 2: Population question

A researcher wants to compare whether a disease-linked variant is present in two populations. Explain why sequencing may be more useful than profiling for this question.

Multiple Choice

Understand1 mark

1. What does DNA sequencing determine directly?

A
The colour of the phenotype only
B
The order of nucleotide bases in DNA
C
The exact birth order in a pedigree
D
The complete environment of the organism
Understand1 mark

2. What is the main function of DNA profiling?

A
To sequence every base in the full genome
B
To compare selected DNA patterns between samples
C
To create mutations for comparison
D
To replace missing genes in a chromosome
Apply1 mark

3. A scientist wants to identify the exact base change responsible for an inherited disorder. Which technology is most appropriate?

A
DNA sequencing
B
DNA profiling only
C
Punnett squares only
D
Binary fission analysis
Analyse1 mark

4. Which statement best compares sequencing and profiling?

A
They are identical because both use DNA
B
Profiling always gives more molecular detail than sequencing
C
Sequencing determines base order, while profiling compares selected DNA patterns
D
Only profiling can be used in inheritance studies
Analyse1 mark

5. Why is it weak to treat DNA profiling as a full genome sequence?

A
Because profiling does not use DNA at all
B
Because profiling compares selected markers rather than reading the entire base order
C
Because full genome sequences cannot be compared
D
Because base order is irrelevant to inheritance

Short Answer

Apply3 marks

6. Define DNA sequencing and DNA profiling, and state one key difference between them.

3 marks

Analyse4 marks

7. Explain why DNA sequencing is useful for investigating inherited disease variants in a population.

4 marks

Analyse5 marks

8. A study uses DNA profiling to compare samples from several families in a population. Explain what kind of information profiling can provide, and one important limitation compared with DNA sequencing.

5 marks

Rapid Review

Sequencing

Determines the exact order of nucleotide bases.

Profiling

Compares selected DNA marker patterns between samples.

Module 5 link

Both technologies support inference about inheritance patterns, relatedness and disease variants in populations.

Revisit Your Thinking

Return to the claim from the start of the lesson and rewrite it using the correct distinction between sequencing and profiling.

Answers and Worked Solutions

+

Multiple Choice

1. B - Sequencing determines the order of nucleotide bases.

2. B - Profiling compares selected DNA patterns between samples.

3. A - Exact base changes are identified directly by sequencing.

4. C - Sequencing reads base order, while profiling compares selected patterns.

5. B - Profiling does not normally provide the full genome base order.

Short Answer 6

DNA sequencing is the determination of the nucleotide base order in DNA. DNA profiling is the comparison of selected DNA marker patterns between samples. A key difference is that sequencing reads base order directly, while profiling usually compares patterns at selected regions rather than the full sequence.

Short Answer 7

DNA sequencing is useful because it identifies the exact nucleotide order and can reveal specific inherited variants or mutations associated with disease. This allows researchers to detect whether a disease-linked base change is present in individuals or populations and compare how common the variant is across groups.

Short Answer 8

DNA profiling can provide information about whether samples share similar selected DNA marker patterns, which can support inference about relatedness or inheritance links between individuals or families. A major limitation is that profiling does not usually give the full exact base order, so it cannot identify every specific variant in the same way that sequencing can.

Mark lesson complete

Tick this once you can distinguish DNA sequencing from DNA profiling and explain how each helps investigate inheritance patterns in populations.