17.

1 Chromosomes, Genes and Proteins

Core Objective 1

State that chromosomes are made of DNA, which contains genetic information in the form of
genes

Chromosomes are thread-like structures found in the nucleus. They are made of DNA.
DNA carries genetic information in sections called genes.

Core Objective 2

Define a gene as a length of DNA that codes for a protein

A gene is a section (length) of DNA that contains the instructions for making a specific protein.

Core Objective 3

Define an allele as an alternative form of a gene

An allele is a different version of the same gene.

For example, a gene for eye colour may have a brown allele or a blue allele.

Core Objective 4

Describe the inheritance of sex in humans with reference to X and Y chromosomes

Humans have 23 pairs of chromosomes in each diploid cell.

One pair determines sex and is called the sex chromosomes.

 Females: XX

 Males: XY

Egg cells always contain an X chromosome.

Sperm cells contain either X or Y.

If:

 X sperm fertilises egg → XX (female)

 Y sperm fertilises egg → XY (male)

Therefore, the father determines the sex of the baby.

Supplement Objective 5

State that the sequence of bases in a gene determines the sequence of amino acids used to make a
specific protein
The order of bases in DNA determines the order of amino acids in a protein.
Each gene has a specific base sequence that codes for a particular protein.

What are bases in DNA?

Bases are the chemical building blocks that make up DNA.

DNA is made of repeating units called nucleotides, and each nucleotide contains:

1. A sugar

2. A phosphate group

3. A nitrogenous base (this is what we mean by “bases”)

The four bases in DNA are:

 A – Adenine

 T – Thymine

 C – Cytosine

 G – Guanine

These bases pair specifically:

 A pairs with T

 C pairs with G

Why are bases important?

The order (sequence) of these bases acts like a code.

For example:

 ATGCCATTGA…

That sequence is a set of instructions.

During protein synthesis:

 The bases are read in groups of three (called codons).

 Each group of three bases codes for one amino acid.

 The order of codons determines the order of amino acids.

 The order of amino acids determines the shape and function of the protein.

Simple analogy

Think of bases like letters in a sentence.

  Letters → form words

 Words → form sentences

 Sentences → give meaning

Similarly:

 Bases → form codons

 Codons → code for amino acids

 Amino acids → form proteins

So when we say:

"The order of bases in DNA determines the order of amino acids in a protein"

we mean:

👉 The sequence of A, T, C, and G acts as instructions for building a specific protein.

Supplement Objective 6

Explain that different sequences of amino acids give different shapes to protein molecules

Proteins are made of amino acids joined in a chain.

The sequence of amino acids determines how the chain folds.

Different sequences form different shapes.
The shape determines the protein’s function.

Supplement Objective 7

Explain that DNA controls cell function by controlling the production of proteins
DNA controls what proteins are made in a cell.
Proteins include:

 Enzymes

 Membrane carrier proteins

 Receptors for neurotransmitters

Because proteins control chemical reactions and cell processes, DNA controls cell function.

1 DNA contains instructions

DNA contains genes.

A gene is a section of DNA that codes for a specific protein.

The sequence of bases in a gene determines:

 The sequence of amino acids

 The structure of the protein

 The function of the protein

2 DNA controls which proteins are made

Not all genes are active in every cell.

Different cells:

 Switch certain genes on

 Switch certain genes off

This means different cells produce different proteins.

For example:

 Muscle cells produce proteins for contraction.

 Nerve cells produce receptor proteins for neurotransmitters.

3 Proteins control cell activities

Proteins are responsible for most cell functions. Examples include:

🔹 Enzymes

 Control chemical reactions.

 Control metabolic pathways.

 Without enzymes, reactions would be too slow.

🔹 Membrane carrier proteins

  Control movement of substances in and out of cells.

 Allow glucose, ions, etc. to cross membranes.

🔹 Receptors

 Detect chemical signals (e.g. neurotransmitters, hormones).

 Allow cells to respond to stimuli.

4 Linking it together

⬇
DNA

⬇
Controls which proteins are made

⬇
Proteins control chemical reactions and processes

Therefore, DNA controls cell function

🔥 Exam-Style Answer (Structured)

DNA controls cell function by controlling the production of proteins.

Genes in DNA code for specific proteins.
The sequence of bases determines the sequence of amino acids in a protein.
Proteins such as enzymes control chemical reactions, membrane carrier proteins control transport
across membranes, and receptors allow cells to respond to signals.
Since proteins control cell activities, DNA therefore controls cell function.

Supplement Objective 8

Explain how a protein is made

1. The gene remains in the nucleus.

2. A copy of the gene is made called messenger RNA (mRNA).

3. mRNA is made in the nucleus.

4. mRNA moves to the cytoplasm.

5. mRNA passes through a ribosome.

6. The ribosome assembles amino acids into a protein.

7. The order of amino acids is determined by the sequence of bases on the mRNA.

1 Transcription (happens in the nucleus)

What happens?
  A gene (a section of DNA) is copied.

 The copy is called mRNA (messenger RNA).

 mRNA is complementary to the DNA template strand.

Example:
DNA: A T G C C A
mRNA: U A C G G U

(Notice RNA has U instead of T.)

Why is this necessary?

DNA stays safely in the nucleus.

mRNA carries the instructions out to the cytoplasm.

2 Translation (happens at ribosomes)

Now the mRNA is used to build a protein.

What happens:

 Ribosome reads mRNA in groups of 3 bases (codons).

 Each codon codes for one amino acid.

 tRNA brings the correct amino acid.

 Amino acids join together to form a polypeptide chain.

 The chain folds into a protein.

🔄 So Where Does This Fit?

You asked earlier:

 What do genes code for? → Proteins

 How does DNA control cell function? → By controlling proteins

Now here’s the full chain:

⬇
Gene (DNA)

⬇
Transcription → mRNA

⬇
Translation → Amino acid sequence

⬇
Protein folding

⬇
Functional protein (enzyme, carrier, receptor, etc.)

Cell function
Why This Matters

If:

 The DNA sequence changes (mutation)

→ mRNA changes
→ Amino acid sequence changes
→ Protein shape may change
→ Cell function may change

That’s how genetic diseases happen.

📝 Exam-Style Summary (4–5 marks)

DNA controls protein production through transcription and translation. During transcription, a gene
is copied into mRNA in the nucleus. The mRNA moves to a ribosome, where translation occurs. The
ribosome reads the mRNA codons and assembles amino acids into a polypeptide. The polypeptide
folds into a protein that determines cell function.

Supplement Objective 9

Explain that most body cells contain the same genes but not all are expressed

Most body cells contain the same genes.

However, cells only make the proteins they need.

Genes can be switched:

 “On” → gene is expressed and protein is made.

 “Off” → protein is not made.

This allows cells to become specialised.

Core Objective 10

Describe a haploid nucleus

A haploid nucleus contains one set of chromosomes.

Gametes (sperm and egg cells) are haploid.

Core Objective 11

Describe a diploid nucleus

A diploid nucleus contains two sets of chromosomes.

Body cells are diploid.

Core Objective 12

State that in a human diploid cell there are 23 pairs of chromosomes

Human diploid cells contain 23 pairs of chromosomes (46 total).

17.2 Mitosis

Core Objective 1

Describe mitosis as nuclear division giving rise to genetically identical cells

Mitosis is nuclear division that produces two genetically identical daughter cells.

Core Objective 2

State the role of mitosis

Mitosis is responsible for:

 Growth

 Repair of damaged tissue

 Replacement of worn-out cells

 Asexual reproduction

Core Objective 3

State that exact replication of chromosomes occurs before mitosis

Before mitosis, each chromosome replicates to form two identical chromatids.

Core Objective 4

State that chromosome copies separate, maintaining chromosome number

During mitosis:

 Chromosome copies separate.

 Each daughter cell receives the same number of chromosomes.

Core Objective 5

Describe stem cells

Stem cells are unspecialised cells.
They divide by mitosis to produce daughter cells that can specialise into different cell types.

17.3 Meiosis

Core Objective 1

State that meiosis is involved in the production of gametes

Meiosis produces gametes (sperm and egg cells).

Core Objective 2

Describe meiosis as a reduction division

Meiosis is a reduction division because:

 Chromosome number is halved.

 Diploid cells become haploid.

 Four genetically different cells are produced.

This creates genetic variation.

17.4 Monohybrid Inheritance

Core Objective 1

Describe inheritance

Inheritance is the transmission of genetic information from one generation to the next.

Core Objective 2

Describe genotype

Genotype is the genetic makeup of an organism (the alleles it possesses).

Core Objective 3

Describe phenotype

Phenotype is the observable characteristics of an organism.

Core Objective 4

Describe homozygous

Homozygous means having two identical alleles for a gene.

Core Objective 5

State that two identical homozygous individuals are pure-breeding

If two identical homozygous individuals breed, they produce offspring with the same phenotype.

Core Objective 6

Describe heterozygous

Heterozygous means having two different alleles for a gene.

Core Objective 7

State that heterozygous individuals are not pure-breeding

Heterozygous individuals can produce different phenotypes in offspring.

Core Objective 8

Describe a dominant allele

A dominant allele is expressed whenever it is present.

Core Objective 9

Describe a recessive allele

A recessive allele is only expressed if no dominant allele is present.

Core Objective 10

Interpret pedigree diagrams

Pedigree diagrams:

 Squares = males

 Circles = females

 Shaded = affected

 Unshaded = unaffected
Dominant traits appear in every generation.
Recessive traits may skip generations.

Core Objective 11 & 12

Use genetic diagrams and Punnett squares

Example (heterozygous × heterozygous):

G = dominant
g = recessive

Outcomes:
GG, Gg, Gg, gg

Phenotypic ratio = 3:1

Supplement Objectives

Test Cross

A test cross is used to determine if a dominant phenotype is homozygous or heterozygous.

The unknown individual is crossed with a homozygous recessive.

 All dominant offspring → homozygous dominant

 1:1 ratio → heterozygous

Codominance

In codominance, both alleles are expressed in the phenotype.

ABO Blood Groups

Alleles:
IA, IB, IO

IA and IB are codominant.

IO is recessive.

Possible blood groups:

A, B, AB, O

Crossing heterozygous A × heterozygous B gives phenotypic ratio [Link].

Sex-Linked Characteristics
A sex-linked gene is located on a sex chromosome.

Red-green colour blindness:

 Recessive

 Located on X chromosome

 More common in males

Example cross:
Normal male × carrier female
Phenotypic ratio = 3:1