Biology · IGCSE 0610 · §17.1–17.3

Chromosomes, Genes and Cell Division

DNA, genes and alleles, the inheritance of sex, and (Extended) how genes make proteins and how cells divide. Part A of Chapter 17.

Biology · 0610 Topic 19 of 22

Chromosomes, DNA and Genes

InheritancePart A: chromosomes, genes, cell divisionGenesChromosomes, DNA,genes, alleles, sexProteins (EXT)Bases, amino acids,mRNA, expressionMitosis (EXT)Identical cells;stem cellsMeiosis (EXT)Gametes with halfthe chromosomestogetherGenes on chromosomes carry the instructions for proteins;(EXT) cell division passes them on, unchanged or reshuffledgenes, DNA and the sex chromosomes carry the information
FIG 17.0 How the chapter connects: Chromosomes carry genes, which are lengths of DNA. Genes code for proteins. (Extended) Cell division passes genes on.

Chromosomes are made of DNA. The DNA contains genetic information in the form of genes. A gene is a length of DNA that codes for a protein. An allele is an alternative form of a gene.

Definition
Gene
A length of DNA that codes for a protein.
Definition
Allele
An alternative form of a gene.
chromosomes carry genesDNA, a code for proteinscells divide and make gametes
FIG 17.11 Chromosomes in a nucleus, DNA, and a cell dividing.
nucleuscontains chromosomeschromosomemade of DNAgenea length of DNA that codes for a proteinDNAcontains genes
FIG 17.1 The nucleus contains chromosomes, which are made of DNA. A gene is a length of DNA.
TermMeaning
ChromosomeA structure in the nucleus made of DNA
DNAContains genetic information in the form of genes
GeneA length of DNA that codes for a protein
AlleleAn alternative form of a gene
chromosome 1chromosome 2same gene,same positiondifferent allelesof the gene
FIG 17.2 Two chromosomes carrying different alleles of the same gene.

Worked example (gene and allele): Distinguish between a gene and an allele. Step 1. A gene is a length of DNA that codes for a protein. Step 2. An allele is an alternative form of a gene. Answer: gene: codes for a protein; allele: alternative form.

Examiner note
A gene codes for a protein. Use the words ‘length of DNA’ in the definition.
Why this matters
Genes carry the instructions that determine the features of an organism.

Inheritance of Sex

Sex in humans is inherited using the X and Y chromosomes. Females have two X chromosomes (XX). Males have one X and one Y chromosome (XY).

Definition
X and Y chromosomes
Females have two X chromosomes (XX). Males have one X and one Y chromosome (XY).
female: XXmale: XY
FIG 17.3 The sex chromosomes of a female and of a male.

All egg cells carry an X chromosome. Half of the sperm carry an X chromosome and half carry a Y chromosome. At fertilisation, if an X sperm fuses with an egg the child is a girl (XX). If a Y sperm fuses with an egg the child is a boy (XY).

Mother’s gametes (all X)Father’s X spermFather’s Y sperm
X eggXX (girl)XY (boy)
X eggXX (girl)XY (boy)

Each fertilisation has a 1 in 2 chance of giving a girl (XX) and a 1 in 2 chance of giving a boy (XY). The expected ratio is 1 1.

Worked example (sex determination): State the chance that a baby will be a boy, and explain your answer. Step 1. A boy is XY. This needs a Y sperm. Step 2. Half of the sperm carry a Y chromosome and each is equally likely to fertilise the egg, so the chance is 1 in 2 (50%). Answer: 1 in 2 (50%).

Worked example (independent chances): A couple already has three sons. State the chance that their fourth child is a girl. Step 1. Each fertilisation is a separate event. Step 2. Half of the sperm carry an X chromosome, so the chance is still 1 in 2 (50%). Answer: 1 in 2 (50%).

Examiner note
The sperm decides the sex of the child. Every egg cell carries an X chromosome.
Why this matters
It explains why about half of all babies are boys and half are girls.

Genes, Proteins and Cell Function

ExtendedFrom bases to proteins

The sequence of bases in a gene determines the sequence of amino acids used to make a specific protein. Different sequences of amino acids give different shapes to protein molecules.

sequence of bases in the geneATGCCAGTdeterminessequence of amino acidssequence of bases in the geneGGCATTCAdeterminessequence of amino acidsprotein 1protein 2
FIG 17.4 The sequence of bases determines the sequence of amino acids, and so the shape of the protein (Extended)

ExtendedHow DNA controls cell function

DNA controls cell function by controlling the production of proteins. These include:

ProteinRole in the cell
EnzymesSpeed up chemical reactions
Membrane carriersMove substances across the cell membrane
Receptors for neurotransmittersDetect neurotransmitters at synapses

Worked example (genes and protein shape): Explain why a gene with a different sequence of bases may produce a protein that works differently. Step 1. A different sequence of bases can give a different sequence of amino acids. Step 2. This can give the protein a different shape, so it may not work in the same way. Answer: different bases; different shape.

Definition
Protein shape
(Extended) The sequence of amino acids determines the shape of a protein.
Examiner note
Link in order: sequence of bases, sequence of amino acids, shape of the protein, function.
Why this matters
A protein can only do its job if it has the right shape.

Making a Protein

ExtendedMaking a protein, step by step

1. The gene coding for the protein remains in the nucleus.

2. mRNA is a copy of the gene.

Definition
mRNA
(Extended) Messenger RNA: a copy of a gene, made in the nucleus, that carries the information to the ribosomes.

3. mRNA molecules are made in the nucleus and move to the cytoplasm.

4. The mRNA passes through ribosomes.

5. The ribosome assembles amino acids into protein molecules.

6. The specific sequence of amino acids is determined by the sequence of bases in the mRNA.

nucleusgene (DNA)mRNAribosomeamino acids assembled into a proteinmRNA leaves the nucleus
FIG 17.5 How a protein is made from a gene (Extended)

Worked example (making a protein): State where mRNA is made, and where it goes to be used. Step 1. mRNA is made in the nucleus, as a copy of a gene. Step 2. It moves to the cytoplasm and passes through ribosomes. Answer: made in the nucleus; used at ribosomes.

Worked example (the ribosome): State what the ribosome does, and what determines the sequence of amino acids. Step 1. The ribosome assembles amino acids into protein molecules. Step 2. The sequence of amino acids is determined by the sequence of bases in the mRNA. Answer: assembles amino acids; mRNA bases decide order.

Examiner note
The gene stays in the nucleus. It is the mRNA copy that moves to the cytoplasm.
Why this matters
It explains how a gene in the nucleus controls proteins made elsewhere in the cell.

Gene Expression, Haploid and Diploid

ExtendedNot every gene is used

Most body cells in an organism contain the same genes. However, many genes in a particular cell are not expressed, because the cell only makes the specific proteins it needs.

Definition
Gene expression (term)
(Extended) Genes whose protein the cell makes are said to be expressed.
Cell type 1gene 1gene 2gene 3gene 4gene 5Cell type 2gene 1gene 2gene 3gene 4gene 5expressednot expressed
FIG 17.6 Cells with the same genes express different genes (Extended)

ExtendedHaploid and diploid nuclei

A haploid nucleus contains a single set of chromosomes. A diploid nucleus contains two sets of chromosomes. In a diploid cell there is a pair of each type of chromosome. In a human diploid cell there are 23 pairs.

Haploid nucleusa single set of chromosomesDiploid nucleuspairs of each type; human: 23 pairs
FIG 17.7 A haploid nucleus and a diploid nucleus (Extended)

Worked example (same genes, different cells): A nerve cell and a muscle cell from the same person have the same genes. Explain why the cells are different. Step 1. Each cell only expresses some of its genes. Step 2. So each cell makes different proteins, and has different features. Answer: different genes expressed.

Examiner note
Most body cells of one organism contain the same genes. They differ because different genes are expressed.
Why this matters
It explains how cells with the same genes can be specialised for different functions.

Mitosis

ExtendedWhat happens in mitosis

Mitosis is nuclear division giving rise to genetically identical cells. The exact replication of chromosomes occurs before mitosis. During mitosis the copies of the chromosomes separate, so the chromosome number is maintained in each daughter cell.

Definition
Mitosis
(Extended) Nuclear division giving rise to genetically identical cells.
1. Parent cell(diploid)2. Chromosomescopied3. Copiesseparate4. Two genetically identicaldaughter cells
FIG 17.8 Mitosis, simplified: the chromosomes are copied and the copies separate (Extended)

ExtendedThe roles of mitosis

RoleExample
GrowthA seedling grows by adding new cells
Repair of damaged tissuesNew skin cells replace cells lost in a cut
Replacement of cellsSkin cells or red blood cells that wear out are replaced by new ones
Asexual reproductionYeast budding; strawberry runners

Worked example (chromosome number): A human body cell has 46 chromosomes and divides by mitosis. State the number of chromosomes in each daughter cell. Step 1. The chromosomes are copied, and the copies separate. Step 2. The chromosome number is maintained, so each daughter cell has 46. Answer: 46 chromosomes.

Examiner note
Mitosis gives genetically identical cells with the same chromosome number. Do not confuse it with meiosis.
Why this matters
Mitosis allows an organism to grow, repair itself and replace worn-out cells.

Stem Cells

ExtendedUnspecialised cells that divide

Stem cells are unspecialised cells that divide by mitosis to produce daughter cells. These daughter cells can become specialised for specific functions.

Definition
Stem cells
(Extended) Unspecialised cells that divide by mitosis to produce daughter cells that can become specialised for specific functions.
stem cellunspecialisedmitosisstays a stem cellspecialisesspecialised cells: different shapes for specific functions
FIG 17.9 A stem cell divides by mitosis; daughter cells can become specialised (Extended)

ExtendedLinking ideas

IdeaLink to stem cells
MitosisStem cells divide by mitosis, so the daughter cells have the same genes as the stem cell; they become specialised because different genes are expressed
Gene expressionA daughter cell becomes specialised by expressing only the genes it needs

Worked example (explaining stem cells): Describe what a stem cell is and how it can lead to specialised cells. Step 1. A stem cell is an unspecialised cell that divides by mitosis. Step 2. Its daughter cells can become specialised for specific functions. Answer: unspecialised; divide by mitosis; become specialised.

Worked example (same genes in daughter cells): Explain why the daughter cells formed when a stem cell divides have the same genes as each other. Step 1. Stem cells divide by mitosis. Step 2. Mitosis gives genetically identical cells. Answer: mitosis; genetically identical.

Examiner note
Stem cells divide by mitosis and are unspecialised. Their daughter cells can become specialised.
Why this matters
Stem cells are how an organism makes the many different kinds of cell it needs.

Meiosis

ExtendedA reduction division

Meiosis is involved in the production of gametes. It is a reduction division in which the chromosome number is halved from diploid to haploid, resulting in genetically different cells.

Definition
Meiosis
(Extended) A reduction division in which the chromosome number is halved from diploid to haploid, resulting in genetically different cells.
Diploid cellpairs of chromosomesmeiosisreduction divisionHaploid cells (gametes)genetically different; half the chromosomes
FIG 17.10 Meiosis halves the chromosome number (Extended)

ExtendedMitosis and meiosis compared

MitosisMeiosis
Chromosome numberMaintainedHalved (diploid to haploid)
Daughter cellsGenetically identicalGenetically different
RoleGrowth, repair, replacement, asexual reproductionProduction of gametes (for sexual reproduction)

Worked example (meiosis and gametes): A human diploid cell has 46 chromosomes. State the number of chromosomes in a gamete, and name the type of division. Step 1. Meiosis halves the chromosome number. Step 2. Each gamete is haploid, with 23 chromosomes. Answer: 23; meiosis.

Worked example (restoring the diploid number): Explain why gametes must be haploid, and what happens to the chromosome number at fertilisation. Step 1. Fertilisation is the fusion of the nuclei of two gametes. Step 2. If gametes were diploid the number would double each generation; fusing two haploid nuclei gives a diploid zygote. Answer: two haploid nuclei fuse; zygote diploid.

Examiner note
Meiosis halves the chromosome number (diploid to haploid) and produces genetically different cells. It is not mitosis.
Why this matters
Meiosis makes gametes, so that fertilisation restores the diploid number.

Exam advice

Common mistakes

Defining a gene as a ‘characteristic’ or ‘trait’
A gene is a length of DNA that codes for a protein.
Using ‘gene’ and ‘allele’ as if they mean the same
An allele is an alternative form of a gene.
Saying the egg decides the sex of the child
Every egg carries an X chromosome; the sperm carries X or Y.
Saying the gene leaves the nucleus to make a protein
The gene stays in the nucleus; an mRNA copy moves to the ribosomes.
Saying mitosis halves the chromosome number
Mitosis maintains the chromosome number; meiosis halves it.

Model answer

Describe the inheritance of sex in humans.
[4 marks]
Mark 1
[k] Sex chromosomes.
Females have XX chromosomes and males have XY chromosomes.
Mark 2
[k] Egg cells.
All egg cells carry an X chromosome.
Mark 3
[k] Sperm.
Half the sperm carry X and half carry Y.
Mark 4
[k] Fertilisation.
An X sperm gives a girl (XX); a Y sperm gives a boy (XY); equal chance of each.

Recall checklist

  • State what chromosomes are made of.
  • Define a gene and an allele.
  • Describe the inheritance of sex.
  • Explain how bases determine protein shape (Extended)
  • Describe how a protein is made (Extended)
  • Explain gene expression; define haploid and diploid (Extended)
  • Describe mitosis, its roles and stem cells (Extended)
  • Describe meiosis and compare it with mitosis (Extended)

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