16 Inheritance

16.1 Passage of information from

parents to offspring
Homologous pairs have different alleles of the
Haploid cell - a cell containing one complete set same gene. One chromosome of each
of chromosomes (n) (23 chromosomes). homologous pair comes from each parent.

Diploid cell - a cell containing two complete

sets of chromosomes (2n) (46 chromosomes).

Haploid Cell & Diploid Cell

c) Meiosis I

● Form of nuclear division that results in

Q - Why is reduction division needed during the production of haploid cells from
meiosis? diploid cells.
● It produces gametes in plants and
● Meiosis produces gametes. animals that are used in sexual
reproduction.
● Two gametes fuse during fertilisation to
● It has two divisions: meiosis I and
produce a zygote. meiosis II
● The zygote will have maternal and
paternal chromosomes.
● Gametes need to be haploid so that the 1. Prophase I
zygote is diploid.
● Allows chromosome no. to remain ● DNA condenses and becomes visible as
constant. chromosomes.
● DNA replication has already occurred,
b) Homologous pairs each chromosome consists of two sister
chromatids joined together by a
Homologous pairs are paired chromosomes that centromere.
have the same: ● The chromosomes are arranged side by
● Gene sequence. side in homologous pairs.
● Loci (gene position) ● A pair of homologous chromosomes is
● Centromere location called a bivalent
● Chromosomal length ● Crossing over of non-sister chromatids
occurs. The point at which the crossing
This allows them to line up alongside each over occurs is called the chiasma.
other during meiosis. ● Centrioles migrate to opposite poles and
the spindle is formed.
● The nuclear envelope breaks down and ● cell surface membrane and also secrete a
the nucleolus disintegrates. layer of calcium pectate which becomes
the middle lamella.
● Layers of cellulose are laid upon the
2. Metaphase I middle lamella to form the primary and
secondary walls of the cell.
● The end product of cytokinesis in
● The bivalents line up along the equator meiosis I: two haploid cells
of the spindle, with the spindle fibres ○ These cells are haploid as they
attached to the centromeres. contain half the number of
● Independent assortment of homologous centromeres.
pairs occurs.
d) Meiosis II
3. Anaphase I
There is no interphase between meiosis I and
meiosis II so the DNA is not replicated
● The homologous pairs of chromosomes
are separated as microtubules pull whole 1. Prophase II
chromosomes to opposite ends of the
spindle. ● The nuclear envelope breaks down and
● The centromeres do not divide. chromosomes condense.
● A spindle forms at a right angle to the
old one.
4. Telophase I
2. Metaphase II
● The chromosomes arrive at opposite
● Chromosomes line up in a single file
poles.
along the equator of the spindle.
● Spindle fibres start to break down.
● Nuclear envelopes form around the two
3. Anaphase II
groups of chromosomes and nucleoli
reform.
● Centromeres divide and individual
● Some plant cells go straight into meiosis
chromatids are pulled to opposite poles.
II without reformation of the nucleus in
● Creates four groups of chromosomes that
telophase I.
have half the number of chromosomes
compared to the original parent cell.
5. Cytokinesis

● Division of the cytoplasm occurs. 4. Telophase II

● Cell organelles get distributed between
the two developing cells. ● Nuclear membranes form around each
● Animal cells: the cell surface membrane group of chromosomes.
pinches inwards creating a cleavage
furrow in the middle of the cell which
contracts, dividing the cytoplasm in half. 5. Cytokinesis
● Plant cells, vesicles from the Golgi
apparatus gather along the equator of the ● Cytoplasm divides as new cell surface
spindle (the cell plate). The vesicles membranes are formed creating four
merge with each other to form the new haploid cells.
 ● Telophase I: There are 2 groups of
condensed chromosomes around which
nuclei membranes are forming.
● Cytokinesis: Cytoplasm is dividing and
cell membrane is pinching inwards to
form two cells.

The distinguishing features at each stage of

Meiosis II:
● Prophase II: Single whole chromosomes
are visible.
● Metaphase II: Single whole
chromosomes are lined up along the
equator of the spindle in single file (at
9 0 to the old spindle).
o❑

● Anaphase II: Centromeres divide and

chromatids are being pulled to opposite
poles.
● Telophase II: Nuclei are forming around
the 4 groups of condensed chromosomes.
● Cytokinesis: Cytoplasm is dividing and
four haploid cells are forming.

e) Identifying stages of meiosis

The distinguishing features at each stage of

Meiosis I:
● Prophase I: Homologous pairs of f) Crossing over
chromosomes are visible.
● Metaphase I: Homologous pairs are lined
up side by side along the equator of A process by which non sister chromatids
spindle. exchange genetic information.

● Anaphase I: Whole chromosomes are ● During meiosis I homologous

being pulled to opposite poles with chromosomes pair up and are in very
centromeres intact.
close proximity to each other.
 ● The non-sister chromatids can cross over ● Parental allele combinations are not
and get entangled. preserved.
● These crossing points are called ● Gives four different combinations of
chiasmata. alleles.
● The entanglement places stress on the
DNA molecules.
● As a result of this a section of chromatid
from one chromosome may break and
rejoin with the chromatid from the other
chromosome.

Swapping of alleles is significant as it can result

in a new combination of alleles on the two
chromosomes.

h) Fusion of gametes
During fertilisation any male gamete can
fuse with any female gamete to form a
zygote.
g) Independent assortment
This random fusion of gametes at
Independent assortment is the production of
fertilisation creates genetic variation
different combinations of alleles in daughter
between zygotes as each will have a
cells, due to the random alignment of
unique combination of alleles

homologous pairs along the equator of the

spindle during metaphase I. 16.2 The roles of genes in
determining the phenotype
● Each pair can be arranged with either
chromosome on top, completely random. a) Key terms in genetics
● The orientation of one homologous pair
Gene: a sequence of nucleotides that forms part
is independent / unaffected by the of a DNA molecule and codes for a specific
orientation of any other pair. polypeptide.

Locus: the position of a gene on a chromosome.

Allele: a version of a gene that has slightly
different sequence of nucleotides but occupies
the same locus on the chromosome.

Dominant: alleles that are always expressed in

the phenotype regardless of another allele's
presence.

Recessive: alleles that are only expressed in the

phenotype if no dominant allele is present.

Codominant: when both alleles are expressed in

the phenotype at the same time.

Phenotype: the observable features of an

organism which is affected by genes and the
environment.

Genotype: the alleles of a gene possessed by an

individual.

Homozygous: having two identical alleles of a c) Monohybrid inheritance

gene.
Monohybrid inheritance looks at how the alleles
Heterozygous: having two different allele for a single gene are passed on from one
copies of a gene. generation to the next.

Test cross: a genetic cross in which an organism F1 generation: all heterozygous dominant
possessing a dominant characteristic is crossed
F2 generation: 1 homozygous dominant, 2
with a homozygous recessive organism, the
heterozygous dominant, 1 homozygous
phenotypes of the offspring can be used to
recessive
deduce whether the original organism is
homozygous or heterozygous. d) Dihybrid inheritance
F1 generation: the offspring resulting in the test Dihybrid crosses look at how the alleles of two
cross between a homozygous dominant and genes transfer across generations.
recessive organism.
● Two genes on 2 different chromosomes,
with 2 alleles each.
● E.g. Green and yellow peas, Round and
wrinkled peas.

F2 generation: the offspring resulting from a

F1 generation: all heterozygous dominant.
cross between two F1 individuals.
F2 generation: ratio is 9:3:3:1
b) Inheritance table
e) Sex linkage
Sex-linked genes are only present on one sex
chromosome and not the other.

● If the gene is on the X chromosome,

males (XY) will only have one copy of
 the gene, whereas females (XX) will unknown genotype is homozygous
have two. dominant for both genes.
● If at least one of the offspring exhibit the
Female phenotypes - normal, carrier, disease. recessive phenotype for one gene but not
Male phenotypes - normal, disease. the other, then the unknown genotype is
heterozygous for one gene and
f) Codominance homozygous dominant for the other.
● If at least one of the offspring exhibit the
When there are two dominant alleles for a gene,
recessive phenotype for both genes then
both will be expressed in the phenotype.
the unknown genotype is heterozygous
● Capital letter for the gene and subscript for both genes.
letters for the alleles.
j) Chi-squared test
F1 generation: all heterozygous codominant.

F2 generation: 2 homozygous dominant alleles

for each allele, 2 heterozygous codominant
alleles. Ratio 1:2:1

g) Autosomal linkage
2 genes with 2 alleles on the same chromosome.

● Some genes which are located on the

same chromosome display autosomal
linkage and stay together in the original Used to calculate the difference between
parental combination. expected and observed results.
● Don’t assort independently.
If the difference is significant it can suggest that
h) Epistasis something else is happening that is not
accounted for.
When two genes on different chromosomes
affect the same phenotype.

● One gene can affect the expression of

another gene.
- If the chi-squared value represents a
larger probability than the critical
probability then it can be stated that the
i) Test crosses differences between the expected and
For a monohybrid test cross: observed results are due to chance.

● If no offspring exhibit the recessive - If it represents a smaller probability than

phenotype then the unknown genotype is the critical probability then the
homozygous dominant. differences in results are significant and
● If at least one of the offspring exhibit the something else may be causing the
recessive phenotype then the unknown differences (linkage between genes).
genotype is heterozygous.
- The degrees of freedom can be
For a dihybrid test cross: calculated by subtracting one from the
number of classes.
● If no offspring exhibit the recessive
phenotype for either gene then the
16.2 Genes proteins and phenotype ● Abnormal allele for F8 gene on X
chromosome can result in:
Genes can affect the phenotype of an organism. abnormal/less/no factor 8.

● A gene codes for a single protein. Males: have only 1 X chromosome, so if they
● Protein affects phenotype. have 1 copy of faulty allele they have
haemophilia.
a) Albinism
Females: have 2 X chromosomes, so
Albinism is an autosomal recessive disease that heterozygous females are symptomless carriers,
causes a lack of pigment in the skin, hair, eyes. homozygous recessive females have
haemophilia.
- Recessive allele for TYR gene on
chromosome 11 causes d) Huntington's disease
inactive/insufficient tyrosinase enzyme.
Autosomal dominant disease that causes
Metabolic pathway for melanin production: neurological degeneration, develops with age,
symptoms don't show up until 30+.
1. Amino acid tyrosine converted to DOPA
by enzyme tyrosinase. ● Dominant abnormal allele for HTT gene
2. DOPA converted to dopaquinone by codes for huntingtin protein involved in
enzyme tyrosinase. neuronal development.
3. Dopaquinone converted to melanin. ● Present on chromosome 4.
● Abnormal allele has a large no. of
tyrosine → DOPA → dopaquinone → melanin repeated GAG triplets in the nucleotide
sequence of HTT gene.
b) Sickle cell anaemia
Disease that causes sickle cell haemoglobin in
RBC. 16.2 Role of gibberellin
Le gene dictates the height of some plants by
regulating the production of enzymes that form
● Abnormal allele for HBB gene on active gibberellin.
chromosome 11 which codes for BETA
globin. ● Dominant allele Le produces tall plants.
● Caused by a single base change [GAG ● Recessive allele le produces short plants.
replaced by GTG] results in amino acid
substitution [glutamic acid replaced by Recessive allele le codes for a non-functional
valine]. enzyme [3 beta-hydroxylase].
● Homozygous recessive individuals have
➔ Only one nucleotide different from the
sickle cell anaemia and suffer the
dominant allele.
symptoms.
● Heterozygous individuals have normal
and sickle cell haemoglobin, they are
carriers and symptomless
[CODOMINANCE].

c) Haemophilia
● Sex-linked disease. ➔ Alanine is replaced with threonine at the
● Factor 8 is a coagulating agent needed active site of the enzyme
for blood clotting. ➔ Primary structure changes.
 ➔ Inactive gibberellin not converted to
active gibberellin in GA1. 1. Uptake of lactose by the bacterium from
the medium it is growing in.
16.3 gene control
2. Lactose binds to the second binding site
Structural gene: codes for a protein that has a on the repressor protein, distorting its
function within a cell. shape.
3. Repressor protein can no longer bind to
Regulatory gene: codes for a protein that helps
the operator site.
control the expression of another gene.
➔ Makes sure that the correct genes are 4. RNA polymerase can bind to the
expressed in the correct cell at the right promoter region and transcription takes
time. place.
5. mRNA from all 3 structural genes is
Inducible enzyme: only synthesised when their translated.
substrate is present.
6. Lactase enzyme produced and lactose is
➔ Presence of substrate induces the
synthesis of the enzyme by causing the broken down and used for respiration.
transcription of the gene for the enzyme
to start.

Repressible enzyme: synthesised as normal

until a repressor protein binds to an operator.
➔ Presence of repressor protein repressed
the synthesis of the enzymes by causing
the transcription of the gene to stop.

Controlling enzyme synthesis is important as it

stops energy and materials being wasted.

a) The lac operon

An operon is found in prokaryotic DNA and
consists of one or more structural genes
controlled by the same promoter. c) Lactose absent

Left of the lac operon is the promoter for the

1. No uptake of lactose by the bacteria
regulatory gene, and the regulatory gene LacI
that codes for the lac repressor protein. from the medium it is growing in.
2. Regulatory gene is transcribed to
➔ The repressor protein has 2 binding sites, produce lac repressor protein.
one for lactose and one for DNA 3. Lac repressor protein binds to the
[operator]. operator site.
Operator: where the repressor protein binds. 4. RNA polymerase is unable to bind to the
Promoter: where RNA polymerase binds. promoter region.
LacZ: codes for B-galactosidase. 5. Transcription of structural genes doesn't
LacY: codes for permease [allows lactose into happen.
cell]. 6. No lactase enzyme synthesised.
LacA: codes for transacetylase.

b) Lactose present
16.3 Gibberellin and gene control
Eukaryotes use transcription factors to control
gene expression by increasing or decreasing the
rate of transcription.

● A transcription factor is a protein that

controls the transcription of genes by
binding to a specific region of DNA.
● They ensure that genes are being
expressed in the correct cells, at the
correct time and to the right level.

a) Gibberellin and seed germination

1. The DELLA repressor protein is bound

to the transcription factor PIF.
2. Prevents PIF from binding to the
promoter of the amylase gene so no
transcription can occur.
3. Gibberellin binds to the repressor and
enzyme which starts the breakdown of
DELLA proteins.
4. PIF is no longer bound to the DELLA
protein so it binds to the promoter of the
amylase gene.
5. Transcription of amylase occurs and
amylase is produced.