Biology HSC Notes:

Chapter 2:
How does reproduction ensure the continuity of a species?
Syllabus
Explain the mechanisms of reproduction that ensure the continuity of a species, by analysing
sexual and asexual methods of reproduction in a variety of organisms, including but not
limited to:

– animals: advantages of external and internal fertilisation

– plants: asexual and sexual reproduction
– fungi: budding, spores
– bacteria: binary fission
– protists: binary fission, budding
Sexual Asexual

Number of parents Two; male and female One

Genetic variation High (due to meiosis) Low (genetically identical)
(high/low)
Length of (long, e.g. humans = 9 months) Short (e.g. bacteria = 20 minutes)
reproduction cycle
(short/long)
Does a mate need Yes Nope
to be found
(yes/no)
Organism example Humans Jelly Fish

Asexual and Sexual reproduction:

• Asexual reproduction: Reproduction requiring only one parent to make offspring.

Offspring are identical to the parent (unless mutations occur), and produced in large
numbers. Occurs in every kingdom (Bacteria, Protista, Fungi, plants and animals).
• Sexual reproduction: Reproduction combining genetic material (sperm and egg)
from two parents to form offspring. The offspring will vary from the parents due to
variation in genetic material produced in meiosis. Occurs in animals and plants which
have complex reproductive systems for the production of gametes.

Type Process Examples

Binary Fission Equal division of parent cells into two new cells. Rapid process. Bacteria
Protist
Budding Division of cytoplasm is unequal; new organism grows on Protist
parent before breaking away
Fungi – Yeast
Animal – Hydra
Spore formation Spores are released into the environment and germinate into Fungi
new individuals. Mitospores are produced through miosis, and
Plants – mosses, ferns
have a protective outer layer for survival in unfavourable
conditions
Vegetative Plants separate from leaves, stems, underground roots. Form Plants – angiosperms
propagation new, independent plants. (flowering plants)
Fragmentation Part of organism breaks off and regenerates into a new Animal - Flat worm
individual
Parthenogenesis Cloning due to the formation of a new individual from an Animals – insects (ants),
unfertilised egg; all offspring identical to mother lizards and birds

Asexual Reproduction

Asexual Reproduction in Plants

 Vegetative propagation: Plants separate from leaves, stems, underground roots
 Advantage: Rapid increase of plant numbers in favourable conditions, outcompete
rival species
 Disadvantage: Competition from sister/parent plant for resources, lack of genetic
variation (cannot adapt to change, no protection against disease)
Runners Above ground stem that gives rise to new shoots Strawberries
and roots

Bulbs Produces lateral buds that develop into new plants. If Daffodils
removed from parents it can grow into a new
individual
Stem tubers Swollen underground stem with buds (eyes) that Potatoes
grow into new plants

Plant Sexual Reproduction:

Syllabus: Analyse sexual and asexual methods of reproduction in a variety of organisms,
including plant asexual and sexual reproduction
Structures used for sexual reproduction:
 Seed-producing cones in gymnosperms (cone-producing plants)
 Flowers in angiosperm (flowering plants)
  Spores in mosses and ferns
Two stages of sexual reproduction:
1. Gametophyte (haploid)
2. Sporophyte (diploid)

• Vascular, flowering • Vascular, non-flowering

plants, usually containing
both male and female
reproductive parts
• Meiosis produces
haploid (n)
gametophytes:
 Pollen grain
(male) on the
anther
 Egg (female) in
the ovule
• Spread through wind,
insect and bird
pollination allowing for
cross-pollination
seed plants
• Seeds produced by cones
which are exposed by
fruit in maturity
• Spread through wind
pollination
• Pollen grains (n) develop
in male cones. They are
released and transported
via the wind to the
female come containing
megaspores (n). A pollen
grows a tube to the ovule
to fertilise the egg
forming a seed (2n).

After fertilisation in angiosperms…

• Ovule develops into a seed protected by a tough outer layer. The endosperm provides
the embryo with nutrients, as the embryo develops seed leaves, a root tip, and
vascular tissue (phloem and xylem)
• Ovary containing ovule develops into a fruit (obtains sugars + water from vascular
tissue)
• Fruit can be eaten and the seeds planted, or some animals eat the entire fruit and poop
out the seeds
 • Embryo lays dormant until ideal conditions arise (e.g. water and oxygen availability,
temperature and day length)

Sexual Reproduction in Animals

Syllabus: Analyze sexual and asexual methods of reproduction in a variety of organisms,
including: animals – advantages of external and internal fertilization.
• Somatic cells – Body cells that undergo mitosis (e.g. My toe)
• Germ line cells (gametes) – sperm and egg that undergo meiosis
Animal sexual reproduction is divided into two stages:
• Haploid stage: n = 23 chromosomes
 Internal production of sperm (in males) and eggs (in females)
• Diploid stage: 2n = 46 chromosomes
• Evolution states that animals moved from protected aquatic environments to exposed
terrestrial environments. As a result of this animals shifted from external fertilisation
to internal fertilisation as this ensured the survival of their offspring:
• Aquatic animals (fish) and amphibians (frogs) reproduce externally
• Reptiles and birds reproduce internally, then lay an egg with a hard shell or tough
membrane
• Placental mammals (humans) reproduce internally, then protect the embryo within the
female’s body until fully developed. The embryo obtains nutrients through the
placenta (viviparity)
• Marsupial’s mammals (kangaroo) reproduce internally, then give birth to their
offspring while developing. They continue to develop in an internal pouch (viviparity)
 • Monotreme mammals (platypus and echidna) reproduce internally, then lay protected
eggs enclosed in tough flexible membranes (oviparity)
Fertilisation: The fusion of sperm (male gamete) and egg (female gametes) to form a zygote
• External fertilisation – fertilisation of the egg by sperm occurs outside the female
body
• Aquatic animals – female releases eggs into water, male spreads sperm on the
eggs
• Amphibians - female releases eggs into water, male spreads sperm on the eggs
• Internal fertilisation – fertilisation of the egg by sperm occurs within the female
body
• Placental mammals – mother keeps young within body until fully developed,
placenta provides nutrients for development
• Marsupials – mother lays young while still developing, young will enter pouch
and suckle on mothers teet until capable of finding own food
• Monotreme – mother lays egg with soft shell, contains nutrients which help young
develop until birth
Why do certain animals use internal fertilisation?
• Gametes need moisture to survive; the female reproductive tract is moist
• Does not rely on favourable environmental conditions
• Does not need large numbers of gametes
• Successful fertilisation is more likely
Advantages Disadvantages

Asexual • Efficient; amount of time and
energy is minimal
• Rapid increase of population
size in optimal environments
• Offspring well suited to stable
optimal environment
• No need to find sexual partner
Sexual • Increased genetic variation
allowing for greater
adaptability and survival in
changing ecosystems
• Rapid population growth may lead to
overcrowding and resource competition
• If conditions change / disease strikes, the
lack of genetic variation in a population
causes death of the population
• Energy needed to produce gametes and
develop zygote; feeding two organisms
• Plants rely on other factors for seed
dispersal –not a guarantee for gamete unio
• Finding a mate; competition between male
• Providing protection is an investment in
time, energy and survival
 • Testis: The testis are held inside the scrotum. Responsible for the production of sperm
(in the seminiferous tubules) and testosterone (male sex hormone)
• Epididymis: Site where sperm matures and develops the ability to be motile
(i.e. ‘swim’) – mature sperm is stored here until ejaculation
• Vas Deferens: Long tube which conducts sperm from the testes to the prostate gland
(which connects to the urethra) during ejaculation
• Seminal Vesicle: Secretes fluid containing fructose (to nourish sperm), mucus (to
protect sperm) and prostaglandin (triggers uterine contractions)
• Prostate Gland: Secretes an alkaline fluid to neutralise vaginal acids (necessary to
maintain sperm viability)
• Urethra: Conducts sperm / semen from the prostate gland to the outside of the body
via the penis (also used to convey urine)

Sperm Structure
• Head:
 Nucleus containing haploid chromosomes
 Acrosome cap containing enzymes to penetrate the outer layer of the female
egg
• Middle piece:
 Mitochondria contains adenosine
triphosphate (ATP) for energy during the
journey into the female reproductive tract
• Tail:
  Flagellum for the movement of sperm – swings from side to side

• Ovary: The ovary is where oocytes (immature egg cells) mature prior to release
(ovulation) – it also responsible for estrogen and progesterone secretion
• Fimbria: Fimbria (plural: fimbriae) are a fringe of tissue adjacent to an ovary that
sweep an oocyte into the oviduct 
• Oviduct: The oviduct (or fallopian tube) transports the oocyte to the uterus – it is also
typically where fertilisation occurs
• Uterus: The uterus is the organ where a fertilised egg will implant and develop
(becoming an embryo). A placenta is also formed here to provide nutrients to the baby
• Endometrium: The mucous membrane lining of the uterus, it thickens in preparation
for implantation or is otherwise lost (via menstruation)
• Cervix: Narrow, muscular canal lined with mucous connecting vagina to uterus.
Dilates to 10cm during childbirth.
• Vagina: Passage leading to the uterus by which the penis can enter (uterus protected
by a muscular opening called the cervix)

Developing Gametes:

While a male continuously produces sperm over his lifetime, a female is born with all her
oocytes (immature eggs cells) already in her ovaries

- Germ cells (spermatogonium and oogonium) undergo mitosis to create many germ cells
(primary spermatocyte and oocyte)
- Meiosis I occurs to form the diploid secondary spermatocyte and oocyte
- Meiosis II occurs to form haploid spermatid and ootid
-Differentiation forms spermatozoa and ovum, which are released by the male and female
respectively

Pregnancy and Birth in Mammals:

Syllabus: Analyse the features of fertilisation, implantation and hormonal control of
pregnancy and birth in mammals (ACSBL075)
How are offspring produced?
1. Male and female produce gametes
 Spermatocytes  sperm
 Oocytes  ovum
2. Woman undergoes ovulation
3. Fertilisation in females oviduct (zygote formation)
4. Zygote cleavage (embryo formation)
5. Implantation in the uterus
 6. Pregnancy
7. Birth
1: Ovulation:
There are about 4 main Phases:
Menstrual Phase: Follicular Phase:
• Days 1-6/7 • Days 7-13
• Bleeding at the beginning/end of the • The brain signals for the Follicle
ovulation cycle Stimulating Hormone (FSH) to mature
• The body sheds the nutrient-rich lining several follicles (a single egg and the
created during the previous cycle from nutrition providing cells around it
inside the uterus • Increased levels of Oestrogen released by
• Occurs when a woman is not pregnant the follicles causes the endometrium to
thicken, soften, and increase blood vessel
supply

Ovulatory Phase: Luteal Phase:

• Day 14
• Increased Oestrogen increases Luteinizing
Hormone (LH) levels
• LH triggers the release of the most mature
egg from the follicle within an ovary, into
the fallopian tube
• Egg is drawn by fimbriae into fluid currents
and into oviduct
• Oviduct contracts and cilia brush egg
towards uterus
• The other follicles and eggs are reabsorbed
• This is the only time during the menstrual
cycle that a woman can become pregnant.
• Day 15-28
• Oestrogen declines as there are no more
follicles
• Follicle cells produce the corpus luteum
• Corpus Luteum produces Progesterone to
maintain the endometrial lining so a
fertilized egg can implant.
• If a fertilized egg does not attach itself to
the uterine lining during the Luteal Phase,
then Progesterone levels will fall and the
corpus luteum is reabsorbed a few days
before the period starts.
 What do each of the hormones do?
Gland Hormone Target Function

Anterior pituitary FSH Ovary - FSH - Follicle

LH development
- Follicle - Oestrogen
secretion
- LH - Promotes
ovulation
- Follicle - Corpus
luteum development

Ovary Estrogen Reproductive - Oestrogen –

Progesterone tract promotes menstrual
cycle, female
features
- Oestrogen - Prepares
uterus for pregnancy
- Progesterone –
maintains uterus for
pregnancy

Placenta Human Chorionic Ovaries - Maintains corpus

gonadotropin (hCG) luteum to produce
progesterone
- Stops ovulation

(Hormones: signalling molecules responsible for communication between organs target cells.
Target cells have a matching surface receptor to the hormone sent)

2. Fertilisation:
1. The male ejaculates (muscle contraction) through
the urethra in his penis into the vagina of the female
2. Flagella assist the sperm to swim up the females
cervix into the uterus and into the oviduct
3. If ovulation has occurred, the released ovum will be
penetrated by a sperm
Steps of Fertilisation:
1. The sperm uses enzymes from the acrosome to dissolve and penetrate the egg
protective layer (zona pellucida) to reach cell membrane
2. Molecules of sperm surface bind to specialised protein receptors on egg cell
membrane which identify it as the same species. Sperm then enters cell cytoplasm
3. Fusion of the haploid egg and sperm nuclei result in diploid zygote cell (fertilised
egg)
4. Changes at the surface of the eggs occur preventing the entry of multiple sperm into
the nuclei of the egg

3. Implantation:
• The zygote continues to travel down the oviduct towards the uterus
• While on this journey, embryonic development begins:

o
• The blastocyst is what implants into the lush endometrium (uterus wall)

Implantation: The Blastocyst:

The outer layer of cells form the placenta. The
placenta is an ‘exchange organ’ – oxygen and
nutrients from the mother’s blood diffuses into the
blood of the umbilical vein which travels to the fetus.
Waste is removed in the opposite way. The placenta
also produces hCG to maintain the pregnancy
Implantation: The Gastrula
• The blastocyst undergoes gastrulation –
folding in on itself to form three layers:
1. Ectoderm – exterior layer – forms hair, PNS, CNS (brain and spinal cord)
2. Mesoderm – middle layer – foms muscle, cartilage, kidney, gonads
3. Endoderm – inner layer – forms lungs, bladder, digestive system
As the fetus grows in size, its organs develop (prenatal development), and its cells and tissues
becomes specialised to carry out their specific function

lk sac – surrounds egg yolk, transports nutrients from yolk to

embryo via vascular system
Amniotic cavity – surrounds embryo, fluid that acts as a shock
absorber to prevent damage to the baby

4. Pregnancy
Key Hormones:
• hCG – Human chorionic gonadotropin – flow from placenta to ovaries to increase
blood flow to pelvic area and regulates ovarian hormones (oestrogen and
progesterone)
• Progesterone – Levels increase throughout pregnancy until birth. First produced by
the corpus luteum, then the placenta after 6 weeks. Stimulates maintenance of the
uterus during pregnancy, prevents lactation and uterine contraction until birth
• Oestrogen – Levels rise throughout pregnancy until birth. Key in the development of
some organs, and in the development of breast tissues for lactation by the mother.

5. Labour and Birth

• Prostaglandin levels increase, increase cervix sensitivity to

oxytocin which causes uterine contractions
• The changes in these hormone levels causes uterine
contractions
• The baby’s head faces downwards to place pressure on the
cervix, and stimulates the release of more oxytocin
• The cervix dilates from 2cm  10+cm
• At full dilation oxytocin and adrenalin cause the final muscle
contractions to push out the baby and placenta
• After birth, oxytocin and prolactin promote milk production
for breastfeeding
What hormones are involved?

Selective Breeding:
Purpose: To produce animals and plants with useful and/or attractive characteristics by
altering the gene pool of the population
• Hybridisation: The crossing of different varieties within a species to produce new
varieties with different gene combinations
Four basic steps:
1. Determine the desired trait
2. Interbreed parents with the desired trait (genes)
3. Select offspring with the best form of the trait (genes) and breed them
4. Continue this process until the population reliably reproduces desired trait
Selective Breeding:
Advantages Disadvantages
Used to produce high quality food (largest, Undesirable gene linkage – Genes located
most attractive, largest yield, more resistant close together on a chromosomes may be
to disease, more nutritious) linked; if one trait is desirable it may be
 Hybridisation – more vigorous, higher linked with an undesirable trait
yielding, disease resistant when produced Can result in a similar and reduced gene
artificially pool
Hybridisation :
- May not produce desirable offspring in
uncontrolled environments
- May not always produce fertile offspring
(evolutionary dead end)
Case Studies:
• Wheat (pg. 101)
• Orange fleshed sweet potatoes (pg. 102)
• Cultivated mung bean (pg. 104)
• Domestic dogs (pg. 105)
• Poultry (pg. 105)
• Prawns (pg. 105)
Genetic Technology
Purpose: To increase crop productivity, disease and insect resistance, and to improve fertility
Stems from a greater understanding of organisms genomes and how genes are transferred
from one organisms to another
Cloning
• Retains desirable traits through producing new individuals with the same genetic
information as the parent
• Occurs naturally through asexual reproduction
• Occurs artificially in agriculture when humans take cuttings and grafts, grow tissue
culture, split embryos or perform somatic cell nuclear transfer (covered in the next
module)
IQ2: How important is it for genetic material to be replicated exactly?
Cell Replication
Syllabus:
Model the process involved in cell replication, including but not limited to:
• Mitosis and meiosis
• DNA replication using the Watson and Crick DNA model, including nucleotide
composition, pairing and bonding
• It is essential that genetic information is passed on accurately, because the actively of
cells are ultimately controlled by the genetic information in the nucleus (in
eukaryotes) or in the nucleoid (in prokaryotes)
 Homologous Chromosomes
• Each body cell contains two copies of every chromosome; one paternal and one
maternal
• The two chromosomes in each pair are known as homologous chromosomes
• Each homologous chromosome has the same gene in the same location
Mitosis:
• Occurs in the gonads (testes and ovaries) germs cells to produce gametes (sperm and
ovum)
• Process of reduction division as the number of chromosomes decreases in the gamete
• Produces four haploid (n) cells which are genetically different from the parent and
each other
• Two stages: Meiosis I and Meiosis II

Meiosis Vs Mitosis
Meiosis is a source for variation:
• Each chromosome in a pair may carry a different variation of a gene – this is called an
allele
• Example: Hair colour - the father may have an allele for black hair, and the mother
has an allele for brown hair
• DNA strand of two homologous chromosomes are cut at he equivalent point, a
segment is exchanged and strands are recombined
• Crossing over occurs at a point called the chiasma which has molecular scaffolding to
help this transfer occur
 • One form of nucleic acid (DNA and RNA)
• Macromolecule made up of repeating nucleotide units; phosphate + 5-carbon sugar +
nitrogenous base
• Phosphate is attached to the 5’ carbon
• Base is attached to the 1’ carbon
• Two polynucleic strands held together by hydrogen bonds
• For the complementary bases to form hydrogen bonds, the strands must run
antiparallel (in opposite directions) – one from 5’ 3’ and the other 3’  5’
• This allows for the double helix shape to occur
• This is also important for cell division
DNA Bases:
• Double stranded helix with complementary base pairing (A-T, C-G)
• Two types of bases:
• Purines – double ring structure – adenine and guanine
• Pyrimidines – single ring structure - thymine (or uracil in RNA) and cytosine
• Bases held together by hydrogen bonds
• Polynucleotide strands form through condensation polymerisation reactions
• The hydroxyl group (OH) on the 3’ carbon atom joins with the phosphate
(PO4), forming water which is released
• On the polynucleotide strand, one end has a free phosphate group on the 5’ carbon (5
prime), and at the other end there is a free hydroxyl on the 3’ carbon (3 prime). This is
important for cell division
Chromosomes
• Different homologous pairs have different appearances
• Contains DNA and structural proteins called histones. DNA is wrapped around the
histones forming nucleosomes. Collective nucleosomes are known as chromatin
which forms our chromosomes
• This structure supercoils during prophase 1 which allows it to be visible under the
microscope
• This structure is space efficient and protects the DNA from enzymatic damage

DNA replication:
 1. Double-stranded DNA unzips at the area called the replication fork. This occurs under
the control of enzymes helicase and topoisomerase
2. Primase initiates synthesis, organising free nucleotide units in the nucleus to pair up
with the template strand, forming a complementary strand (A-T, C-G) from 5’ to 3’
3. The replication fork moves along the completed DNA strands and allows them to
rewind into a double helices under the direction of DNA polymerase
4. Each double helix wraps around a histone and forms chromatin within the
chromosome
Enzymes in Cell Replication:
Enzymes Role
Topoisomerase N/A
Helicase Twist itself to take less space
Primase Synthesis of an RNA primer which acts as a
starter nucleotide section

DNA polymerase 10 proteins complex which acts as a clamp

circling the DNA
- Adds complementary bases from 5’ to 3’
(can only add nucleotides from the 3—
OH end)
- Checks bases added, and replaces
incorrect one
- Rewinds strand (one strand parent, other
strand daughter)

DNA Ligase - DNA polymerase cannot function on the

antiparallel strand (3’-5’)
- Short lengths of DNA (Ozaki fragments)
are joined together by DNA ligase

DNA and Polypeptide Synthesis

IQ3: Why is polypeptide synthesis important?
Syllabus:
• Construct appropriate representations to model and compare the forms in which DNA
exists in eukaryotes and prokaryotes
• Model the process of polypeptide synthesis, including:
• Transcription and translation
• Assessing the importance of mRNA and tRNA in transcription and translation
Analysing the function and importance of polypeptide synthesis
• Assessing how genes and environment affect phenotypic expression
 • Investigate the structure and function of proteins in living things

DNA V RNA:
• DNA = Deoxyribonucleic acid
• RNA = Ribonucleic acid
RNA:
• Required for protein synthesis
• Exists as a single strand of nucleotides
• Strands are shorter than DNA
• Sugar-phosphate backbone contains ribose sugar (DNA has deoxyribose sugar)
• Nitrogenous bases are adenine-uracil and cytosine-guanine
• Three main forms:
• Messenger RNA (mRNA)
• Ribosomal RNA (rRNA)
• Transfer RNA (tRNA)
Part of the Gene:
• Gene: A sequence of DNA bases which code for a particular trait
• Promotor: Section of DNA that indicates where gene transcription should begin –
where RNA polymerase attaches
• RNA-coding sequence:
 • Exon – A section of DNA which provides information for the formation of a
polypeptide, used to form mRNA
• Intron – A section of DNA which exists between exons but so not provide
information for polypeptide synthesis. Is removed during splicing.
• Terminator: Section of DNA that indicates where a gene ends, signals for polypeptide
synthesis to stop
Transcription:
• Process in which the DNA template strand is copied
(transcribed) to form a messenger RNA strand 1. DNA molecule unzips
• Occurs in the nucleus
2. Enzyme RNA polymerase
• Transcription begins at the promotor DNA sequence moves along DNA template
(identifies the beginning of the gene) and ends at the adding RNA bases according
terminator DNA sequence to complementary base
pairing rules
• Initially both exons (coding DNA) and introns (non-
coding DNA) are copied to form pre-mRNA
3. mRNA strand is produced
• Introns are later spliced out, forming mature mRNA
Translation:
• Process in which the sequence of bases in
mRNA is translated into an amino acid 1. Ribosome moves along the
sequence (polypeptide) mRNA strand
• Polypeptide:
• poly = multiple
2. mRNA is read in codon groups
• peptide = amino acids from 5’ 3’
• Occurs in the cytoplasm at the ribosomes
• 3 consecutive mRNA bases are known as a
codon. Each codon will code for a particular 3. tRNA molecule with
amino acid
complementary base triplet (anti-
codon) brings specified amino acid
• The tRNA carries an anti-codon and amino to ribosome
acid; the anti-codon consists of three bases
complementary to a codon 4. Amino acids are linked by
peptide bonds to form a chain
• Transcription begins at the start codon, and called a polypeptide; polypeptide
finishes at the stop codon chain folds forming protein 3D
• Amino acids are joined with peptide bonds structure
to form polypeptide chain

Analysing the function and importance of polypeptide synthesis:

 • Due to mitosis, every somatic cell in an individual’s body has a copy of the same
genetic information (genome)
• Each genome contains thousands of genes
• When a gene is ‘expressed’, the polypeptide for that gene is made
• This gives each cell its functionality and characteristics
• Polypeptide synthesis links the information in the genes in the nucleus, to the
production of proteins needed in a fully functional organism
Assessing gene and environment on phenotype expression:
• Gene: A section of the chromosomes which codes for a polypeptide
• A gene is ‘expressed’ once the protein for it has been manufactured
• Allele: A different form of the same gene
• Exists due to mutations (a change in a base in the DNA sequence; thereby
slightly altering the DNA in a gene)
• Most alleles function perfectly normally; they are just different

Genotype and Phenotype:

• Genotype - Genes present in the individual organism (what allele is present)
• Phenotype – how the genotype is expressed (what the individual will look like
• Therefore, the genes (alleles) present in an organism will instruct for the formation of
a specific protein, which dictates the organisms appearance (e.g. smooth or wrinkled
skin)
Assessing environmental factors on phenotype:
• No if controlled by only one set of genes
• Yes if polygenic; controlled by multiple genes
Example: Height
• Human height has gradually increased in some cultures due to improved nutrition.
Those with good nutrition are able to grow to their full height potential. Humans who
are malnourished will still grow, however they won’t grow to their full height
potential.

Genetic Variation:
Inquiry question: How can the genetic similarities and differences within and between
species be compared?
Syllabus:
• conduct practical investigations to predict variations in the genotype of offspring by
modelling meiosis, including the crossing over of homologous chromosomes,
fertilisation and mutations
• model the formation of new combinations of genotypes produced during meiosis,
including but not limited to:
• interpreting examples of autosomal, sex-linkage, co-dominance, incomplete
dominance and multiple alleles
• constructing and interpreting information and data from pedigrees and Punnett
squares
• collect, record and present data to represent frequencies of characteristics in a
population, in order to identify trends, patterns, relationships and limitations in data,
for example:
• examining frequency data
• analysing single nucleotide polymorphism (SNP)

Inheriting Genetic Variation:

• Somatic cells are diploid; they contain two sets of chromosomes (one set from each
parent)
• Homologous chromosomes are the same size and contain the same genes in the same
location on the chromosome
• Each individual inherits two alleles for each gene; one allele from each parent;
• If the offspring inherits the same allele from both parents, the gene is known
as homozygous (PP, pp)
• If the offspring inherits different alleles from each parents, the gene is known
as heterozygous (Pp)
• Which allele is expressed in the phenotype depends on dominance
• A dominant trait occurs if the organism has at least one allele (PP, Pp)
• A recessive trait only occurs if the organism has two alleles (pp)
The work of Gregor Mendel:
Mendel demonstrated that traits are passed from parents to offspring, and that these traits
form specific patterns over generations of crossbreeding.
Mendel performed monohybrid crosses:
Stage 1 – Mendel cross-bred two individuals with different alleles at a single locus. He used
homozygous parents (P) with different phenotypes of the same trait are crossed to produce
heterozygous offspring (forming the F1 generation).
Stage 2 – Mendel self-pollinated a heterozygous offspring, which results in the following:
• genotypic ratios = 1 homo dominant : 2 hetero : 1 homo recessive
• Phenotypic ratio = 3 dominant trait : 1 recessive trait

Using a Punnett Square:

Parent genotypes are placed into a Punnett Square in order to determine the potential
genotype and phenotype of offspring
Ordering results:
• Offspring genotype – homozygous dominant : heterozygous : homozygous recessive
• Offspring phenotype – dominant : recessive

Types of Inheritance: Incomplete and Codominant Genes:

• Some traits do not show the complete dominance demonstrated in Mendels
experiments
• Incomplete dominance occurs when neither phenotype is dominant, so offspring takes
an intermediate form
• Codominance occurs when both alleles are expressed to varying degrees in the
phenotype of a heterozygous organism

Incomplete Dominance: Snapdragons:

• Snapdragons have a red (C R C R) or white (
C W C W ) flower phenotype
• Uppercase letters and superscripts are used
Autosomal versus Sex-linked Inheritance:
• Autosomal Inheritance: Genes which located and passed on along non-sex
chromosomes
• Sex-linked inheritance: Genes which are located and passed on along sex
chromosomes (gametes)
• Males can pass on X or Y chromosomes
• Females can pass on X chromosomes only
• The X and Y chromosomes also carry genes which are not gender related
X-linked Recessive Inheritance:
• Gene is located on the X chromosome
• Males carrying an X-linked recessive allele will express it phenotypically as they only
carry one X chromosome
• Females carrying an X-linked recessive allele will not express it phenotypically as
they have a second X allele which will be dominant and therefore mask the recessive
trait
How to identify:
 • Affected females produce 100% affected sons
• Unaffected female carriers produce 50% affected sons
• Affected males produce 100% unaffected sons
X-linked Dominant Inheritance:
• Gene located on the X chromosome
• Is expressed in all males and females with the dominant allele
How to identify:
• Affected male produce 100% affected daughters
• Affected males produce 100% unaffected sons
Y-linked Inheritance:

• The Y chromosome contains fewer genes

• Most are involved in male sex determination and fertility
• Some genes are autosomal
How to identify:
• The trait is passed from father to son and never observed in females

Pedigrees and Punnet Squares

Punnet Square:
• Identifies the genotype/phenotype of offspring using the phenotype/genotype of
parents
• Uses capital letters to show dominant trait
• Uses lower case letters to show recessive trait
Pedigree:
• Illustrates how traits are inherited in a family over several generations
Uses symbols:
• Unaffected male =
• Carrier male =
• Affected male =
• Unaffected female =
• Carrier male =
• Affected female =