MODULE 5: HEREDITY

5.1 REPRODUCTION
Inquiry Question: How does reproduction ensure the continuity of a species?

❖ The process of creating offspring

❖ Evolutionary advantage to reproduce and spread the genetic material of an individual
❖ Occurs either by sexual and asexual processes

Asexual and Sexual reproduction

Asexual (without sex) Sexual (with sex)

- Identical offspring from one parent
by mitosis
- Offspring are clones → genetically
identical to the parent. Unless
genetic mutations occur
- E.g Bacteria, fungi, protists
- Union of female and male gametes
from two parents to form a unique
individual by meiosis
- Each offspring has a unique genetic
identity → still continue the species
line
- E.g Animals and plants

Bacteria (e.g. e.coli)

❖ Unicellular, microscopic prokaryotes
❖ Reproduce asexually by binary fission (binary = two; fission = splitting) → single
parent splits into two approximately equal daughter cells
➢ Prokaryotes lack of organelles and smaller amounts of DNA → Binary fission
occurs faster
➢ The population rapidly increases and doubles after every cycle of division →
exponential process

Protists (e.g. amoeba)

❖ Eukaryotes that live in aquatic/moist environment
❖ Protists mainly produce asexually by:
➢ Binary fission → body of the cell is pinched into two parts or halves, however,
these daughter cells may need to mature to be recognisable as parental
species in order to reproduce
 ➢ Budding → new identical organism grows from the body of the parent →
detaches to live independently (much smaller than the parent cell)
❖ Can reproduce sexually (called conjugation) → two individuals fuse and exchange
genetic material → occurs under stressful environmental conditions → allows for
genetic variation → helps the population adapt to changing environments

Fungi
❖ Composed of eukaryotic cells
❖ Secrete enzymes over the surface of their food and absorb the breakdown products
directly
❖ Some reproduce asexually by:
➢ Spore formation
■ Spores (mitospores) are produced by mitosis → genetically identical to
the parent cells and develop into an adult without fusion with a second
cell
■ Sporangiums are structures that contain clusters of spores → disperse
spores by wind and water hello
■ E.g mould and mushrooms
➢ Budding
■ The parent yeast cell reproduces a small outgrowth that grows larger
and forms a bud
■ Nucleus in the parent cell splits off a small daughter nucleus →
migrates into the daughter cell → a bud detaches from the parent cell
■ New bud cells exist in chains although they are individual organisms
➢ Fragmentation
■ small parts of the fungal body break off and become an independent
individual
❖ Can reproduce sexually to increase genetic variation in the population → helps
increase their chances of survival
❖ Most cells are haploid in fungi

Humans

Gametes Somatic

- 23 chromosomes - 46 chromosomes
- Haploid - a single set of - Diploid - a pair of chromosomes
 chromosomes

Plants
❖ Multicellular autotrophs
❖ Reproduce asexually and sexually
➢ Vegetative reproduction/propagation (asexual) → requires the growth of
specialized plant tissues that can grow into a new plant unless it becomes
separated from the parent plant without the need for reproduction of seeds and
spores
■ Runners: modified stems that grow on the surface and have roots that
appear at the buds e.g. strawberry
■ Rhizomes: similar to runners but underground e.g. ginger
■ Tubers: swollen underground food-storing stems e.g. potatoes
■ Bulb: daughter bulbs (buds) that form off the parent bulb e.g. onions
➢ Pollination (sexual) → Male gametes (pollen) fertilize with female gametes
(ovules) to produce diverse offspring → occurs in:
■ Conifers (gymnosperms) - relies on wind to spread a large number of
pollen grains to female conies to produce and protect seeds e.g. pine
cones
■ Flowering plants (angiosperms) - wind, insects or birds carry pollen
grains to the stigma → pollen tubes grow down the style and into the
ovary → the egg fuses with the sperm (from pollen) to produce seeds
→ the ovule becomes a fruit → frees the seed. (Double fertilization
occurs in angiosperms)
❖ Seed dispersal can occur via animals, wind, water or self
❖ Most flowers are bisexual (perfect flowers with both male and female gametes) → do
not self-pollinate as it will have no genetic variations → unable to survive
Animals
❖ The union of male and female gametes (sperm or ovum) can occur outside (external
fertilization) or inside (internal fertilization) the body
➢ External fertilization
■ Egg is fertilized by sperm outside the female’s body.
■ Requires a moist environment to protect gametes and zygotes
(developing eggs) from desiccation (drying out)
■ Most common in amphibians and fish (aquatic animals)
■ Production of large amounts of gametes → increase the chance of
survival and variation
➢ Internal fertilization
■ Egg is fertilized by sperm inside the female’s body
■ Mainly occurs in terrestrial (land) animals
■ Also requires a moist environment → located in the moist reproductive
tract of the female
■ Produces fewer gametes (in females) and fewer zygotes → survival rate
is higher compared to external fertilization

❖ Parthenogenesis is the development of an egg into an embryo without fertilization

such as honeybee

Sexual reproduction in mammals

❖ Sexual reproduction involves:
➢ Fertilization (conception) - the fusion of male and female gametes (sex cells)
to form a zygote (fertilized egg) → zygote contains a new combination of
genetic material from both parents
➢ Implantation - when a fertilized egg adheres to the wall of the uterus
 ➢ Pregnancy - period in which one or more offspring develops inside a female
body
❖ Steps in pregnancy
➢ Ovulation - female ovary releases egg cell → travels down the fallopian tubes
➢ Fertilization (concept) - sperm travels up the fallopian tube and fuses with egg
to form a single-celled zygote
➢ Cleavage - single-celled zygote divides into more cells by mitosis → forms a
blastocyst as it travels into the cervix
➢ Implantation - blastocyst (embryo) embeds itself into the wall of the uterus
(called the endometrium)
➢ Placenta forms - allows exchange of nutrients and oxygen from mother to
embryo in order to allow it to grow into a foetus (8 weeks) → A foetus has
developed major organs e.g. brain, liver, kidney
➢ Birth

Hormones
❖ Chemical substances → act as messengers in the body → coordinate many aspects of
functioning, including reproduction
❖ There are 3 types of sex hormones:
➢ Androgens
■ control the development and function of the male sex organs and
secondary sex characteristics
■ E.g. deepening voice, growth spurt and increase in muscle and bone size
■ The most common androgen, testosterone, is produced in the testes
 ➢ Oestrogens
■ control the development and functioning of the female productive
system and secondary sex characteristics
■ e.g. enlarged breasts, pubic hair and widening of hips.
➢ Progesterone
■ regulate menstruation
■ vital in pregnancy
■ Vital in lactation (secretion of milk in mammary glands)

Ovulation
1. Ovaries contain follicles → include immature eggs
2. Only one matures → others degenerate
3. Oestrogen hormone enters the bloodstream to the pituitary gland → releases
luteinizing hormone (LH) and follicle stimulating hormone (FSH)
4. The LH releases the egg from the follicle and enters the fallopian tubes, ready to be
fertilized

❖ Secreted by the anterior pituitary gland

➢ Follicle stimulating hormone (FSH) - stimulates the ovarian follicle causing an
egg to grow
➢ Luteinizing hormone (LH) - controls when eggs are released into fallopian
tubes/oviduct
NOTE: These hormones are inactive during pregnancy

Hormonal control of pregnancy and birth

❖ Pregnancy begins when the embryo implants into the uterine wall
❖ When the embryo implants → produces human chorionic gonadotropin (hCG) →
preventing corpus luteum from degenerating → maintain the progesterone and
oestrogen levels in early pregnancy
NOTE: This hormone can be found in urine and can be found in pregnancy tests to determine
pregnancy
➢ Progesterone and oestrogen
■ Both initially produced by corpus luteum → later by the placenta (the
corpus luteum begins to degenerate)
■ Progesterone - stimulates the growth of blood vessels to increase blood
flow to uterus → maintains uterine lining for pregnancy → prevents
 lactation and contractions until time for birth → also helps secrete
nutrients to the embryo
■ Oestrogen - helps the uterus grow → promotes breast growth →
regulates other hormones
❖ Placenta forms → secretes progesterone, oestrogen and hCG to maintain the uterine
wall during pregnancy → The corpus luteum in the ovary begins to degenerate/breaks
down
❖ Towards the end of pregnancy:
➢ Oxytocin
■ Just before human birth → prostaglandins increase → also increases
the sensitivity of the cervix and uterus to oxytocin
■ The oxytocin and adrenaline causes uterine contraction to help give
birth
■ Oxytocin also works with prolactin to stimulate lactation for feeding
after giving birth

Manipulation of plant and animal reproduction in agriculture

❖ Humans have used selective breeding (breeding plants or animals for particular and
desirable genetic characteristics) to produce animals and plants with more useful or
more attractive characteristics.
❖ Been used for many years to improve the quality of food and agriculture
❖ E.g: wild bananas have large seeds but due to selective breeding for agriculture,
bananas nowadays are either seedless or have seeds that do not mature

5.2 CELL REPLICATION

Inquiry Question: How important is it for genetic material to be replicated exactly?

Mitosis
Key definitions
❏ Nucleus is where DNA (deoxyribonucleic acid) is stored in eukaryotic cells
❏ Chromosomes are tightly wound strands of DNA
❏ DNA is the material that makes up genes and chromosomes
❏ Gene is a small section of the DNA and codes for a particular trait

❖ Important in the growth and repair of somatic cells

 ❖ Process of cell division → resulting in two identical diploid daughter cells → the
same number and kind of chromosomes as the parent cell
❖ Importance in the continuity of species
➢ Allows for old cells to be replaced → ensure tissues continue to function
effectively and efficiently
➢ Allows us to develop to maturity → can pass our genetic information onto
offspring through sexual reproduction
➢ Some organisms reproduce by asexual reproduction by mitosis → creates the
next generation of organisms

Phases
1. Interphase
- Cell doubles its mass and duplicates its entire components (replicates DNA)
2. Prophase
- Chromosomes condense and become visible
- Centrosomes/centrioles move to opposite sides/poles of nucleus and form
spindle fibres
3. Metaphase
- Chromosomes line up along the equator of the cell
- Spindle fibres attach to centrosomes of the chromosomes
4. Anaphase
- Spindle fibres contract, splitting the centromeres and separating the sister
chromatids
- The separated chromosomes are pulled to opposite sides/poles
5. Telophase
- Spindles disappear and nuclear membrane forms around the two sets of
chromosomes
6. Cytokinesis
 - The final stage of cell division is cytokinesis where the cytoplasm splits into
two complete and identical daughter cells

Meiosis
❖ Important process in sexual reproduction and creating genetic variation
❖ Process of cell division → resulting in four haploid daughter cells (gametes) that are
genetically unique
❖ Importance in the continuity of species
➢ Combination of gametes during sexual reproduction creates new organisms →
inherit traits from both parents
➢ Genetic diversity by meiosis and sexual reproduction → mutation and
variation are essential factors for survival and evolution
NOTE: Before prophase, interphase-cell doubles its mass and duplicates its entire component

Meiosis I
1. Interphase
- A cell doubles its mass and duplicates its entire components (replicates DNA)
2. Prophase I
- Chromosomes condense and become visible
- Centrosomes move to opposite poles
- Homologous chromosomes pair up, aligning next to each other forming Tetrads
- Crossing over occurs between homologous chromosomes
NOTE: Homologous chromosomes = one maternal and paternal chromosomes carrying the same
type of gene e.g. eye colour
3. Metaphase I
 -
Homologous pairs (not individual chromosomes) line up along the equator of
the cell.
- Spindle fibers from centromeres attach to centromeres
4. Anaphase I
- Homologous pairs are separated, pulled to opposite ends of the cell by the
spindle fibers contracting
- Sister chromatids remain attached
5. Telophase I
- Chromosomes arrive at opposite ends of the cell
- Nuclear membrane forms around chromosomes
- Two haploid daughter cells are formed by cytokinesis

Meiosis II
1. Interphase
- A cell doubles its mass and duplicates its entire components (replicates DNA)
2. Prophase II
- Chromosomes condense
- Centrosomes move to opposite poles.
3. Metaphase II
- Chromosomes line up along the equator of the cell.
- Spindle fibers from centrosomes attach to the centromeres.
4. Anaphase II
- Spindle fibers contract and separate sister chromatids (now chromosomes) to
opposite poles.
5. Telophase II
- Chromosomes arrive at opposite ends of the cell
- Nuclear membranes form around the chromosome
- Four haploid daughter cells are formed by cytokinesis

5.3 DNA AND POLYPEPTIDE SYNTHESIS

Inquiry Question: Why is polypeptide synthesis important?
Watson and Crick model
❖ They demonstrated DNA strands were anti parallel → formed a double helix → paired
via complementary base pairings → outer edges of bases remained exposed
❖ They analyzed Rosalind Franklin’s x-ray crystallography of DNA → showed the DNA
strands in a helical structure → allowed for the development of the final structure of
DNA

DNA structure
❖ A complex molecule → contains all the genetic information → build and maintain an
organism.
❖ Shaped as a double helix (two strands in a spiralling shape that twist around each
other)
❖ Made up of subunits called nucleotides → The base structure of each DNA strand
❖ Made up of 3 parts:
➢ A sugar molecule called deoxyribose sugar
➢ A phosphate molecule
➢ A nitrogenous base (A, T, C, G)
❖ 4 nitrogenous bases:
➢ Adenine
➢ Thymine
➢ Guanine
➢ Cytosine
❖ Nitrogenous bases form base pairs → holds the two DNA strands together:
➢ Adenine pairs with Thymine (A -T)
➢ Guanine pairs with Cytosine (G - C)
❖ Bonding in structures
➢ Sugar-phosphate group forms the backbone → are held together by covalent
bonds → cause the twist in DNA structure
➢ Corresponding base pairs form the ‘ladder’ → hold the two strands together by
hydrogen bonds

DNA Replication
❖ Production of two identical double-stranded molecules of DNA from one original
molecule
❖ Each copy contains one new and one old strand → known as semi-conservative
❖ Three main stages
 ➢ Initiation: The DNA double helix unwinds and unzips
■ Helicase enzyme unwinds and breaks the hydrogen bonds between
complementary base pairs → form a replication fork
➢ Elongation: Nucleotides are added to the unwound strands
■ Elongation: Nucleotides are added to the unwound strands
● Each strand acts as a template → production of a new strand of
DNA
● Primase initiates the addition of nucleotides to the template
strands → makes a small piece of RNA bases to the strands
called primer → marks a starting point for construction of DNA
strand
● DNA polymerase takes over → adds complementary nucleotides
to the strand (A with T, C with G)
● The new DNA strand is synthesized (built) in the 5’-3’ direction
(leading strand) by DNA polymerase → complementary strand
has nucleotides added from the 3’ end towards 5’ end (lagging
strand)
● Establish two strands:
◆ leading strand (nucleotides added in same direction of
replication fork)
◆ lagging strand (nucleotides added in fragments) →
because it runs in the opposite direction so DNA
polymerase can make this strand in a series of small
chunks called okazaki fragments
NOTE: An enzyme called exonuclease removes all the RNA primer from both DNA strands →
Another DNA polymerase would fill these gaps with DNA

➢ Termination
■ DNA ligase joins in the two strands together of each new double helix
→ reconnects the hydrogen bonds of the base pairs
■ Two DNA strands formed → each containing half of the original DNA
molecule and a newly synthesized strand
NOTE: All enzyme ends with ‘ase’

DNA in Prokaryotes and Eukaryotes

❖ DNA of prokaryotes and eukaryotes are chemically the same
 ❖ It is above a double stranded molecule with each strand composed of a
sugar-phosphate and its complementary nitrogenous bases
➢ Prokaryote: DNA organized in a single chromosome no nucleus → No mitosis
➢ Eukaryote: DNA organized in multiple chromosomes inside a nucleus → Mitotic
division

EUKARYOTES PROKARYOTES

DNA found in membrane-bound nucleus DNA found in nucleoid

Linear structure Circular structure

Compact-attaches to histones (proteins) to Non-Compact- not attached to proteins= No

form chromatin chromatin

Multiple chromosomes Usually one chromosome

No plasmids however, DNA can also be Plasmids- small, circular DNA with genetic
located in mitochondria and chloroplast advantage
E.g antibiotic resistance

❖ In eukaryotic cells, there are two segments of DNA:

➢ Introns: non-coding DNA (DNA that is not used directly to make products such
as proteins and RNA)
➢ Exons: coding DNA (segments of DNA that code for products such as protein and
RNA)
❖ Polypeptides
➢ Amino acids: building blocks of proteins
 ➢ Peptide bonds: two or more amino acids
➢ Polypeptides (poly=many): chains of many amino acids
➢ Proteins: long chains of amino acids/two or more polypeptide chains

RNA
❖ A single stranded molecule
❖ Contains the base uracil(U) instead of thymine → the bases in RNA are A,U,G and C
(with A and U being complementary bases)
❖ RNA strands are determined by DNA strands → the bases in RNA are complementary to
those in section of DNA
❖ Found in nucleus and cytoplasm
❖ Transfer genetic instructions from the nucleus to the cytoplasm → the information is
decoded and used for protein synthesis
❖ There are three types of RNA:
➢ Messenger RNA (mRNA)
■ involves in transcription
■ carries genetic information from DNA in the nucleus to cytoplasm for
protein synthesis
➢ Ribosomal RNA (tRNA)
■ structural component of ribosomes
➢ Transfer RNA (tRNA)
■ involves in translation
■ transports amino acids from the cytoplasm to ribosomes → form
polypeptide chains

Polypeptide synthesis
❖ For a gene to be expressed as a phenotype (an individual’s observable trait) → must
be translated into a protein → polypeptide synthesis process
❖ Two main stages: transcription and translation

Transcription
❖ The process by which a mRNA sequence is produced from a DNA template
❖ DNA cannot leave nucleus
❖ The enzyme RNA polymerase unwinds and unzips a portion of the DNA double helix →
connects complementary RNA nucleotides to the DNA to form a mRNA strand
❖ Only a small portion of DNA is transcripted
 ❖ Prior to leaving the nucleus, the mRNA needs to mature
❖ Sections of the pre-mRNA are not required in translation
❖ Splicing occurs to remove non-coding regions (introns) → for coding regions (exons)
to join together to form a mature mRNA
❖ Mature mRNA strand moves into cytoplasm via nucleus pores towards ribosomes

Translation
❖ The mRNA is translated and the synthesis (making) of a polypeptide occurs at the
ribosome
❖ Ribosomes composed of rRNA and protein
❖ When protein needs to be made → the subunits of the ribosome join and combine
with the mRNA → begin the process of protein synthesis with the help of tRNA
❖ tRNA located in the cytoplasm
➢ One end of the structure contains the amino acid
➢ The other has an anticodon → corresponds with the codon (a sequence of 3
nucleotides in DNA or mRNA → represents a specific amino acid) on the mRNA
strand
❖ tRNA detaches → free to reattach to a new amino acid
Phenotype Expression
❖ Genotype: the genome or genetic makeup of an organism
❖ Phenotype: the outward appearance of an organism
➢ Phenotype expression is a result of genotype → all structural, physiological
and behavioral attributes of an individual is due to genes that have been
expressed → inherited from parent organisms
➢ However, external factors → environment affect how our genes are expressed
→ E.g identical twins have identical genotypes → a physical (phenotypic)
differences are due to environmental influences

Proteins
❖ Involved in all cell functions
❖ It is the most abundant substance after water
❖ Each protein is folded into a particular shape to perform a particular function
❖ Amino acids
➢ All amino acids have the same basic structure
➢ An amine group (NH2)
➢ A carboxyl group (COOH)
➢ An R group (or side chain). The R group is different for each amino group

❖ Protein structure contains 4 levels

➢ Primary structure
■ the sequence of amino acids in a polypeptide chain due to peptic bonds
➢ Secondary structure
■ the amino acid chain twists or folds due to hydrogen bonding between
amino acid side groups
➢ Tertiary structure
 ■ further folding of the polypeptide to fold into a more complex
three-dimensional shape due to the R groups (or side chains)
➢ Quaternary structure
■ made up of multiple polypeptide chains (or subunits) forming a
quaternary structure
■ e.g haemoglobin

5.4 GENETIC VARIATION

Inquiry Question: How can the genetic similarities and differences within and between
species be compared?

Genetic Variation
❖ Arises during sexual reproduction during meiosis (gamete formation) and fertilisation
❖ Randomly mix parental chromosomes → result in individuals with unique and varied
phenotypes
➢ When does genetic variation occur in meiosis?
■ Meiosis produces four unique daughter cells for sexual reproduction.
■ Fertilisation: the random meeting of any two gametes → produce
variations in phenotype in offspring
➢ Besides meiosis and fertilization, what else can cause genetic variation?
■ Mutations can occur during any of the above processes → common
during DNA replication prior to cell division

Key definitions
❏ Gene: a section of DNA encoding a particular characteristic
❏ Allele: alternative forms of the same gene
❏ Homozygous: identical alleles in a gene pair
❏ Heterozygous: combination of alleles present an organism’s chromosomes
❏ Phenotype: outward appearance of an organism determined by alleles expressed

Alleles
❖ Diploid individuals have two alleles of each gene - why?
➢ Humans have 46 chromosomes existing in 23 pairs
➢ Each chromosome in each pair has an allele of the same gene → one given by
each parent
 ❖ Alleles can either be dominant or recessive
❖ Letters of the alphabet are used to represent a trait
❖ Letter casing determines whether it is dominant (CAPITAL) or recessive (lowercase)
❖ Alleles in an organism might be both recessive or both dominant (homozygous) →
one recessive and one dominant (heterozygous)

Gregor Mendel
❖ Known as the father of genetics
❖ Studied the inheritance of different characteristics in pea plants in 1856
❖ Before Mendel’s discovery → scientists believed in a blending theory of inheritance -
offspring was a blend of parental traits
➢ e.g. tall and short parent = medium height child
❖ Instead, Mendel proposed the particulate theory of inheritance
➢ parents transmit to their offspring inheritable factors (now called genes) →
remain as separate factors from generation to the next

Mendel’s Laws of Inheritance

❖ Mendel carried out monohybrid crosses → involves a cross between two individuals
with different alleles for a single trait
➢ e.g. green and yellow pea plants.
❖ Led to the development of the following laws:
➢ Law of segregation
■ two alleles coding for the same gene/trait separate during gamete
formation
➢ Law of dominance
■ when two different alleles are present → only one is dominant and will
be expressed
➢ Law of independent assortment
■ Mendel carried out a dihybrid cross → one gene doesn’t affect the
inheritance of any other gene

Modes of Inheritance
❖ Mendel’s ratios/Mendelian pattern of occurence of various phenotypes/genotypes in
offspring is not always true
➢ Some genes are not dominant or recessive
➢ Some genes do not assort independently and are linked
 ❖ 2 types of inheritance
➢ Autosomal
■ when traits (alleles) are passed on the autosomes
■ i.e. all chromosomes except for sex chromosomes
➢ Sex-linkage
■ when traits (alleles) are passed on the sex chromosomes (X or Y)

Autosomal Inheritance
❖ Complete dominance
➢ Autosomal dominant inheritance: when a trait is determined by the expression
of a dominant allele e.g. AA or Aa
➢ Autosomal recessive inheritance: where two recessive alleles are required to be
inherited → a trait to be phenotypically expressed e.g. aa

❖ Incomplete dominance
➢ The blending of features of the two alleles expressed → a hybrid that is
intermediate e.g. snapdragon flowers.
➢ Special notations are used to represent alleles → do not show complete
dominance
■ a letter is chosen to represent the gene
■ The allele is written in superscript (e.g. CR or CW) OR different capital
letters for each allele can be used (R and W)
 ❖ Codominance (co = together)
➢ Both alleles are expressed, creating a new phenotype e.g. cattle

NOTE: Incomplete dominance and codominance are examples of inheritance → does not show
the Mendelian pattern → because in the genes of some organisms → pairs of alleles do not
show dominance of one allele over the other

Pedigrees
❖ A pedigree chart (family tree)
➢ show how traits are passed within families → using standard symbols
➢ allow us to understand how traits are passed from parents to offspring
❖ Pedigree charts allow:
➢ The genotype to be depicted in individuals
➢ The recessive/dominant nature of the trait can be determined
➢ Predictions of the likelihood of future generations showing a particular trait
can be made
❖ Pedigree charts use a number of standard symbols and conventions:
➢ Circles = females and squares = males
➢ Shapes which are shaded represent individuals displaying the trait being
studied
➢ A horizontal line represents a cross between the individuals
➢ A vertical line represents a link from parent to offspring
➢ Generations are represented with Roman numerals
➢ A carrier individual us shown with a half-filled symbol
Autosomal dominant
❖ If both parents are affected and an offspring is unaffected → the trait must be
dominant (parents are both heterozygous)
❖ All affected individuals have at least one affected parent

Autosomal recessive
❖ If both parents are unaffected and an offspring is affected → the trait must be
recessive (parents are heterozygous carriers)
❖ If both parents show a trait → all offspring exhibit the trait (homozygous recessive)

X-linked dominant
❖ If a male shows a trait → all daughters must too as well as his mother
❖ An unaffected mother cannot have affected sons (or an affected father)
❖ more common in females (this is not sufficient evidence though)
X-linked recessive
❖ If a female shows a trait → all sons must too as well as her father
❖ An unaffected mother can have affected sons if she is a carrier (heterozygous)

❖ more common in males (this is not sufficient evidence though)

Polygenic Inheritance
❖ When more than one gene influences a trait
❖ Causes a wide variety of phenotypes → controlled by a number of genes → is
continuous variation
➢ e.g. skin colour, eye colour and height in humans

Single Nucleotide Polymorphism

❖ SNP is a variation in a nucleotide in a specific gene
❖ Occur in a certain population
❖ Happen during DNA replication → single nucleotide is incorrectly inserted
❖ For SNP to occur → the altered DNA sequence must occur in at least 1% of the
population
❖ Often happens in non-coding regions (introns DNA)
❖ Genetic markers are used to distinguish individuals → identify disease
Population Genetics
❖ The study of how populations change genetically over time → within population
allele and genotype frequencies change over time
➢ The frequency of an allele in a population refers to the proportion of the
population that have allele frequency → often presented as a decimal or
percentage
➢ Allele and genotype frequencies depend on factors → mating patterns,
population size and distribution, mutation, migration and selection

The Hardy-Weinberg Equation

❖ For two alleles of a given gene, there are 3 possible genotypes: AA, Aa, aa
➢ Dominant allele is A, with a frequency of p
➢ Recessive alleles is a, with a frequency of q
NOTE: The total frequency of two studied alleles of specific genes must be 100%

❖ Ways to use the formula

➢ To find the allele frequency, use p+q=1
➢ To find the genotype frequency, use the Hardy-Weinberg equation
5.5 INHERITANCE PATTERNS IN A POPULATION
Inquiry Question: Can population genetic patterns be predicted with any accuracy?

The Human Genome Project (HGP)

❖ A program → map all the genes in the human genome (an organism’s complete set of
DNA)
➢ Began in 1990 → declared complete in 2003
➢ Through the sequencing of the DNA, the HGP improved in our genetics
understanding → genetic disorders, disease diagnosis and susceptibility to
diseases
➢ Provides scientists with the potential to individualise diagnosis and treatment
of diseases
❖ A complete and accurate sequence of 3 billion DNA base pairs are decoded
❖ An approximate 20,000 - 25,000 genes have been identified
❖ Current objectives:
➢ Find variations in DNA sequence responsible for diseases
➢ Develop genome-based strategies for detection, diagnosis and treatment of
disease
➢ Determine how DNA and environment influence protein expression
➢ Compare genes of other organisms to determine evolutionary relationships

Technology used in DNA Profiling and Sequencing

❖ DNA manipulation techniques used in DNA profiling and sequencing:
➢ Polymerase chain reaction (PCR)
 ■ Amplify a single copy or a few copies of a specific segment of DNA →
generate thousands to millions of copies to study in detail
➢ DNA gel electrophoresis
■ Separate DNA fragments according to their size
■ DNA samples are loaded in the gel and dyed
■ An electric current is applied allowing for smaller fragments called
bands → move through the gel faster than larger ones

DNA Profiling
❖ A technique where individuals can be identified and compared via their respective
DNA profiles → does not identify the genome or DNA sequence
➢ Short tandem repeats (STRs) are repeating elements that makes up a DNA →
generate unique DNA profiles
➢ The study of STR markers at particular locations (loci) in the human genome
help identify individuals and biological relationships
❖ DNA profiling procedure
1. A DNA sample is collected (e.g from blood, semen, saliva)
2. DNA is then amplified using PCR to produce many copies of specific STR sequences
3. Gel electrophoresis is used to separate the fragments based on their size
4. Comparing fragment bands to other profiles
DNA Sequencing
❖ Determines the exact order of nucleotides (A, T, C and G) in a DNA molecule
❖ Tells scientists the kind of genetic information carried in a particular DNA segment
❖ Its data highlight changes in a gene that may cause disease and determine
evolutionary relationships
❖ Involves complex techniques such as:
➢ PCR
➢ Gel electrophoresis
➢ Computer scanning

Conservation Management
❖ Aim is to avoid extinction of species by applying conservation methods → ensure the
maintenance of biodiversity
❖ Involves gathering genetic data to make informed decisions → determine current and
future strategies for conservation of populations
❖ To conserve certain populations, the following aspects must be managed:
➢ Management of population size
➢ Understanding of genetic diversity within the population
➢ Management of critical habitat
❖ Example: Tasmanian Devil
➢ The tasmanian devil is an endangered species → decreasing population
➢ The major threats are:
■ The prevalence of devil facial tumour disease (DFTD)
■ Low genetic diversity → many are susceptible to the fatal DFTD
■ Land clearing → loss of habitat and feeding
■ Reduced abundance of native fauna limiting population size
■ Short life span of 5 years → sexually mature at 2 years → limits time
for reproduction and restricts opportunities to increase population size
➢ Management strategies:
■ The Save the Tasmanian Devil Program (STDP) was set up in 2003 by
Tasmanian government → determine the disease characteristics of DFTD
→ establish an insurance population
■ Insurance population are captive populations of healthy and genetically
diverse individuals → released into the wild when needed
Population Genetics

Diseases and Disorders

❖ When there is a group of SNP markers on the same chromosomes, they are called
haplotypes → used in genome-wide association studies (GWAS)
❖ GWAs studies avoid the need for full genome sequencing → quick and relatively easy
➢ Involves scanning markers across the genomes of many people → find genetic
variations associated with certain disease
❖ GWAS can be used:
➢ As indicators of disease
➢ To establish family lineage and familial relationships
➢ To study evolutionary relatedness
❖ Examples
➢ In NSW, all newborns are screened for phenylketonuria (PKU) and other
congenital disorders. Screening of individuals can benefit an individual
through early detection and improved treatment options
➢ Huntington’s disease (HD)
■ AN autosomal dominant disorder → causes brain degeneration and loss
of cognitive/processing function
■ Can be screened → determine if an individual with a history of HD may
or may not develop HD → less than 35 repeats indicates HD will not
develop, 40 or more repeats means HD will develop
■ However, data analysis show that 10% are caused by new mutations and
not inheritance linked

Human Evolution
❖ Modern humans arose in Africa approx. 300,000 years ago → have a diverse species
❖ Two theories on how humans evolved:
➢ The Regional Continuity Model- modern humans all evolved at the same time
from archaic humans in different regions of the world
➢ The Replacement (Out of Africa) Model- humans evolved once in Africa →
migrated to different regions of the world. The study of mitochondrial DNa
(mtDNA) in modern humans an be traced back to an ‘African Eve’
❖ DNA hybridisation is a technique used to determine the genetic
similarities/differences between two species
➢ The double stranded DNA molecule is split into single strands for each species
 using heat
➢ The single strands from species are mixed - if there are similar sequences,
they will hybridise (join to form a double strand)
➢ Heat is applied to the hybrid strands → amount of heat required indicates how
similar the sequences are (more heat required = hydrogen bonds required to
separate the two strands)

IN CLASS QUESTIONS
Describe how each hormone affects pregnancy and birth.
- HCG: Human chorionic gonadotropin - maintain the corpus luteum which produces
oestrogen and progesterone
- Progesterone: prevents contractions from happening, increases blood flow, maintains
the endometrium of the uterus
- Oestrogen: growth of breasts for lactation, develops the endometrium, regulates other
hormones during pregnancy
- Once corpus luteum dies, oestrogen and progesterone are produced by placenta
- Oxytocin: prostaglandins increase sensitivity in the cervix where oxytocin allows for
contractions to occur
- Prolactin: helps with lactation to produce milk
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Describe the steps in DNA replication
(Answer from teacher):
1. Initiation
- double helix unwinds and unzips by helicase.
2. Elongation
- RNA primer starts the addition of complementary nucleotides to the original
DNA strand.
- DNA polymerase takes over and continues the process
3. Termination
- Two identical DNA strands - one from the original strand and a new one that
has been formed.
- The strands form a helical shape
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List the differences between the DNA of prokaryotes and eukaryotes
Prokaryote Eukaryote

- Bacteria - Membrane bound organelles

- 1 chromosome - Animals, plant, fungi cell
- Found in nucleoid - Multiple chromosomes
- Circular structure - Found in nucleus
- Plasmid - Linear
- Mitochondria and chloroplasts
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Draw a venn diagram comparing the similarities and differences between DNA and RNA
DNA RNA Similarities

- Double stranded - Single stranded - Located in nucleus

- Missing an oxygen - Contains an oxygen - AGC bases
molecule molecule
- Thymine base - Uracil base
- Deoxyribose sugar - Ribose sugar
- Cell replication - Protein synthesis
- 3 types of RNA
- Introns and exons
- Cytoplasm and
ribosomes
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What are the 3 parts that make up the basic structure of an amino acid?
- Amine group
 - Carboxyl group
- R group
Describe the 4 different types of protein structures
- Primary: simple chain of amino acids joined by peptide bonds.
- Secondary : the chain twists and folds due to hydrogen bonding
- Tertiary: 3D structure folded due to the R group
- Quaternary: 3D structure made up of multiple polypeptide
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Compare DNA profiling and DNA sequencing

Profiling Sequencing

Compares DNA to find the identity of an Provides the exact order of nucleotides
individual → relies on STR markers

Involves PCR and Gel electrophoresis Involves PCR, gel electrophoresis, computer
scanning, sequencing reaction

Forensic, Biological relationship Likelihood of disease inheritance and

evolutionary relationship

Not as detailed, cheaper and quicker More detailed, expensive and longer process