Topic 3 Genetics

3.1 Genes

3. A gene is a DNA is the genetic blueprint which codes for and

1 heritable determines the characteristics of an organism
U1 factor that  This includes the physical, behavioural, and
consists of a physiological features of the organism
length of DNA
and influences A gene is a heritable factor that consists of a length of DNA
a specific and influences a specific characteristic
characteristic  A sequence of DNA that encodes for a specific trait
 Traits may also be influenced by multiple genes
(polygenic)

3. A gene DNA is packaged and organised into discrete structures

1 occupies a called chromosomes
U2 specific  The position of a gene on a particular chromosome is
position on a called the locus
chromosome

3. The various Alleles are alternative forms of a gene that code for
1 specific forms different variations of a specific trait
U3 of a gene are  Thus, alleles only differ from each other by one or a few
alleles bases.
 Ex: gene for eye colour has alleles that encode different
3. Alleles differ shades/pigments
1 from each
U4 other by one or
only a few
bases

3. New alleles A mutation is a random change in the nucleotide sequence

1 are formed by of a gene coding for a specific trait, forming new alleles.
U5 mutation
Gene mutations can be beneficial, detrimental, or neutral:
Deletions,  Beneficial mutations (missense mutations) change the
insertions, and gene sequence to create new variations of a trait
frame-shift  Detrimental mutations (nonsense mutations) truncate
mutations do the gene sequence to abrogate the normal function of a
not need to be trait
included.  Neutral mutations (silent mutations) have no effect on
the functioning of the specific feature

3. The genome is The genome is the whole of the genetic information of an

1 the whole of organism
U6 the genetic  This includes all genes as well as non-coding DNA
information of sequences (e.g. introns, promoters, short tandem
an organism. repeats, etc.)
The human genome consists of :
 46 chromosomes (barring aneuploidy)
 ~3 billion base pairs
  ~21,000 genes

3. The entire The Human Genome Project (HGP) was an international 13-
1 base sequence year effort, 1990 to 2003.
U7 of human Primary goals were to discover the complete set of human
genes was genes and make them accessible for further biological
sequenced in study, and determine the complete sequence of DNA bases
the Human in the human genome.
Genome
Project

3. The causes of Sickle cell anaemia is an example of a disorder caused by a

1 sickle cell gene mutation
A1 anaemia,  This disease allele arose from a base substitution
including a mutation – where a single base was changed in the gene
base sequence
substitution
mutation, a
change to the Causes of sickle cell anaemia
base sequence Sickle cell anaemia results from a change to the 6th codon
of mRNA for the beta chain of haemoglobin
transcribed  DNA – The DNA sequence changes from GAG to GTG on
from it and a the sense/coding strand (CTC to on the antisense/non-
change to a coding/template strand)
sequence of  mRNA – The mRNA sequence changes from GAG to GUG
polypeptide in at the 6th codon position
haemoglobin  Polypeptide – The sixth amino acid for the beta chain of
Students haemoglobin is changed from glutamic acid to valine
should be able (Glu to Val)
to recall one
specific base
substitution
that causes
glutamic acid
to be
substituted by
valine as the
sixth amino
acid in the
haemoglobin
polypeptide. Consequence of Sickle Cell Anaemia
The amino acid change (Glu  Val) alters the structure of
haemoglobin, causing it to form insoluble fibrous strands
- The insoluble haemoglobin cannot carry oxygen as
effectively, causing the individual to feel constantly
tired

The formation of fibrous strands changes the shape of the

red blood cell to a sickle shape
- The sickle cells may form clots within capillaries,
blocking blood supply to vital organs and causing
myriad health issues
 - The sickle cells are also destroyed more rapidly than
normal cells, leading to a low red blood cell count
(anaemia)

3. Comparison of The number of genes present in an organism will differ

1 the number of between species and is not a valid indicator of biological
A2 genes in complexity
humans with
other species The number of genes in a genome is usually predicted by
identifying sequences common to genes
The number of  These identifying regions may include expressed
genes in a sequence tags (ESTs) or sequences that are
species should homologous to known genes
not be referred  The presence of pseudogenes and transposons make
to as genome accurate counts of unique gene numbers very
size as this difficult
term is used  As scientists may use different approaches to
for the total predicting gene numbers, final estimations can vary
amount of significantly
DNA. At least
one plant and
one bacterium
should be
included in the
comparison
and at least
one species
with more
genes and one
with fewer
genes than a
human.
3.2 Chromosomes

3.2 Prokaryotes Genetic material in prokaryotes is found free in the

U1 have one cytoplasm in a region called the nucleoid
chromosome
consisting of The genetic material of a prokaryote consists of a single
a circular chromosome consisting of a circular DNA molecule
DNA (genophore)
molecule  DNA is naked – not associated with proteins for
additional packaging
May possess circular DNA molecules known as plasmids, in
addition to the genophore

3.2 Some Plasmids are small, circular DNA molecules that contain
U2 prokaryotes only a few genes and are capable of self-replication
also have  Plasmids are present in some prokaryotic cells, but
plasmids, but are not naturally present in eukaryotic cells
eukaryotes
do not Bacterial cells may exchange plasmids via their sex pili, in a
process known as bacterial conjugation
 Bacterial conjugation is used in nature to share beneficial
genetic material between bacteria, such as antibiotic
resistance

As plasmids can self-replicate and autonomously synthesise

proteins, they are ideal vectors for gene manipulation in
labs

3.2 Eukaryote The genetic material of eukaryotic cells consist of multiple

U3 chromosomes linear molecules of DNA that are associated with histone
are linear protein – results in a compacted structure, allowing for
DNA efficient storage
molecules
associated Organisation of eukaryotic chromosomes can be
with histone summarised as follows (more on this in Topic 7):
proteins  DNA is arranged with eight histone proteins (an
octamer) to form a complex called a nucleosome
 Nucleosomes are linked by an additional histone
protein (H1 histone) to form a string of
chromatosomes
 Chromatosomes then coil to form a solenoid structure
(~6 chromatosomes per turn), which is condensed to
form a 30 nm fibre
 The fibres then form loops, which are compressed
and folded around a protein scaffold to form
chromatin
 Chromatin will then supercoil during cell division to
form chromosomes that are visible (when stained)
under a microscope
3.2 In a Each chromosome has a constriction point called a
U4 eukaryote centromere, which divides the chromosome into two
species, sections (or ‘arms’)
there are  p arm – shorter section
different  q arm – longer sections
chromosomes
that carry Eukaryotic species possess multiple chromosomes that may
different differ in both their size and the position of their centromere
genes  Staining chromosomes with particular dyes (e.g.
Giemsa stain) will additionally generate unique
banding patterns

Each chromosome will carry specific genes and the position

of a particular gene on a chromosome is called the locus

The region in which a locus is positioned can be identified

via three points of reference:

3.2 Homologous Sexually reproducing organisms inherit their genetic

U5 chromosomes sequences from both parents
carry the  This means that these organisms will possess two
same copies of each chromosome (one of maternal origin;
sequence of one of paternal origin)
genes but not  These maternal and paternal chromosome pairs are
necessarily called homologous chromosomes
the same
alleles of Homologous chromosomes are chromosomes that share:
those genes  The same structural features (e.g. same size, same
banding patterns, same centromere positions
 The same genes at the same loci positions (while the
genes are the same, alleles may be different)

Homologous chromosomes must be separated in gametes

(via meiosis) prior to reproduction, in order to prevent
chromosome numbers continually doubling with each
generation

3.2 Diploid nuclei As sexually reproducing organisms receive genetic material

U6 have pairs of from both parents, they have two sets of chromosomes
homologous (diploid). To reproduce, these organisms must create
chromosomes gametes with half the number of chromosomes (haploid).
Fusion of two haploid gametes results in a diploid cell
3.2 Haploid (zygote) that can grow and develop into a new organism.
U7 nuclei have
 one Diploid (2n) – nuclei possessing pairs of homologous
chromosome chromosomes (often of maternal and paternal origins)
of each pair  Has two alleles for each trait
 All somatic cells are diploid, with new somatic cells
created via mitosis
 Diploid cells are present in most animals and many
plants

Haploid (n) – nuclei possessing only one set of

chromosomes are haploid
 Has one allele for each trait
 All gametes are haploid, and are derived from diploid
cells via meiosis
 Haploid cells are also present in bacteria (asexual)
and fungi (except when reproducing)

3.2 The number Chromosome number is a characteristic feature of members

U8 of of a particular species
chromosomes  Organisms with different diploid numbers are unlikely
is a to be able to interbreed (cannot form homologous
characteristi pairs in zygotes
c feature of  In cases where different species do interbreed,
members of a offspring are usually infertile (cannot form functional
species gametes) due to non-diploid chromosome set
e.g. a horse (2n = 64) and a donkey (2n = 62) may
produce an infertile mule (non-diploid = 63)

3.2 A karyogram Karyotypes are the number and types of chromosomes in a

U9 shows the eukaryotic cell – they are determined via a process that
chromosomes involves:
of an  Harvesting cells (usu. from a foetus or WBC of adults)
organism in  Chemically inducing mitosis and then arresting it
homologous while the chromosomes are condensed
pairs of  Stage during which mitosis is halted will determine
decreasing whether chromosomes appear with sister chromatids
length or not

The chromosomes are stained and photographed to

generate a visual profile that is known as a karyogram,
which consists of chromosomes arranged into homologous
pairs in descending length

3.2 Sex is In humans, sex is determined by a pair of chromosomes

U1 determined called the sex chromosomes (or heterosomes)
0 by sex  In its absence of a Y chromosome, female sex organs
chromosomes will develop
and  The sex chromosomes are homologous in females
autosomes (XX) but are not homologous in males (XY)
are
chromosomes Hence, the father is always responsible for determining the
that do not sex of offspring:
determine  If the male sperm contains an X chromosome, the
 sex growing embryo will develop into a girl
 If the male sperm contains a Y chromosome, the
growing embryo will develop into a boy
 In all cases, the female egg will contain an X
chromosome (as the mother is XX)

3.2 Cairn’s Autoradiography

A1 technique for  Cells are grown in a solution containing radioactive
measuring thymidine (tritiated thymidine – 3H-T)
the length of o Thymidine consists of thymine base linked to
DNA deoxyribose, and is used by cells to produce
molecules by nucleotides for DNA replication
autoradiograp o Tritiated thymidine contains tritium, a radioactive
hy isotope of hydrogen  radioactively-labelled DNA
produced by replication
 Cells were then placed onto a dialysis membrane and
their cell walls were digested using lysozyme enzyme 
cells burst and DNA released onto surface of dialysis
membrane
 Thin film of photographic emulsion was applied to
surface of membrane and left in darkness for two months
 some atoms of tritium in the DNA decayed and emitted
high energy electrons, which react with the film
 At the end of the two-month period, film was developed
and examined with microscope. At each point where a
tritium atom decayed there is a dark grain, indicating the
position of the DNA

 Previously, chromosome length could only be

measured while condensed during mitosis (inaccurate
due to supercoiling)
 Using tritiated uracil (3H-U)  identify regions of
active transcription

3.2 Comparison Genome size can vary greatly between organisms and is not
A2 of genome a valid indicator of genetic complexity
 size in T2  Largest known genome possessed by canopy plant
phage, E. Paris japonica – 150 billion bp (base pairs)
coli,  Smallest known genome possessed by bacterium
Drosophila Carsonella ruddi – 160,000 bp
melanogaster
, Homo As a general rule:
sapiens, and  Viruses and bacteria tend to have very small
Paris genomes
japonica  Prokaryotes typically have smaller genomes than
eukaryotes
 Sizes of plant genomes can vary greatly due to the
capiacity for plant species to self-fertilise and
become polyploid

3.2 Comparison Chromosome number does not provide a valid indication of

A3 of diploid genetic complexity
chromosome
numbers of
Homo
sapiens, Pan
troglodytes,
Canis
familiaris,
Oryza sativa,
Parascaris
equorum

3.2 Use of Karyotyping will typically occur prenatally and is used to:
A4 karyograms  Determine the gender of the unborn child (via
to deduce identification of the sex chromosomes)
sex and  Test for chromosomal abnormalities (e.g.
diagnose aneuploidies or translocations)
Down
syndrome in Down syndrome
humans. Down syndrome is the condition whereby the individual has
three copies of chromosome 21 (trisomy 21)
 It is caused by a non-disjunction event in one of the
parental gametes
 The extra genetic material causes mental and
physical delays in the way the child develops
 3.3 Meiosis

3. One diploid Meiosis is the process by which sex cells (gametes) are
3 nucleus made in the reproductive organs
U divides by  It involves the reduction division of a diploid cell into four
1 meiosis to genetically distinct haploid daughter cells
produce four
The process consists of two cellular divisions:
haploid nuclei
 The first meiotic division separates pairs of homologous
3. Separation of chromosomes to halve the chromosome number (diploid
3 pairs of  haploid)
U homologous  The two nuclei produced by meiosis I have haploid
2 chromosomes number of chromosomes, but each chromosome still
in the first consists of two chromatids. The second meiotic division
meiotic separates sister chromatids (created by replication of
division halve DNA during interphase)
the
chromosome Thus, meiosis I & II produces four nuclei that have haploid
number number of chromosomes, with each chromosome consisting
of a single chromatid

3. DNA is Meiosis is preceded by interphase, during which DNA is

3 replicated replicated (in the S phase) to initially produce two
U before genetically identical chromatids per chromosome
3 meiosis so (chromatids may no longer be identical after crossing over)
that all  The two sister in chromatids are held together by a
chromosomes single centromere
consist of two  Sister chromatids are separated during meiosis II,
sister following separation of homologous chromosomes
chromatids. meiosis I
 During early stages of mitosis/meiosis, chromosomes
gradually condense by supercoiling and are visible
under a microscope

3. Drawing Meiosis consists of two divisions, both of which follow the

3 diagrams to same stages as mitosis (prophase, metaphase, anaphase,
S1 show the telophase)
stages of
meiosis Meiosis I: The first meiotic division is a reduction division
resulting in (diploid  haploid) in which homologous chromosomes are
the formation separated
of four  P-I: Chromosomes condense and become visible, nuclear
haploid cells. membrane dissolves, homologous chromosomes form
bivalents, crossing over occurs
 M-I: Spindle fibres (microtubules) from opposite
centrosomes connect to bivalents at centromeres and
align them along the middle of the cell
 A-I: Spindle fibres contract and split the bivalent,
homologous chromosomes to opposite poles of the cell
 T-I: Chromosomes uncoil, cytokinesis occurs to form two
haploid daughter cells

Meiosis II: The second division separates sister chromatids

(these chromatids may no longer be identical due to
crossing over in prophase I)
 P-II: Chromosomes condense and become visible, nuclear
membrane dissolves, centrosomes move to opposite
poles (perpendicular to before in Meiosis I)
 M-II: Soindle fibres from opposite centrosomes attach to
chromosomes at the centromere and align them along
the cell equator
 A-II: Spindle fibres contract and separate the sister
chromatids, chromatids (now called chromosomes),
move to opposite poles
 T-II: Chromosomes decondense, nuclear membrane
reforms, cytokinesis occurs to form four haploid daughter
cells

The final outcome of meiosis is the production of four

haploid daughter cells
  These cells may all be genetically distinct if crossing
over occurs in prophase I, causing recombination of

sister chromatids

3. The early In prophase I, homologous chromosomes undergo a process

3 stages of called synapsis, where they pair up to form a bivalent
U meiosis
4 involve paring After synapsis, crossing over of genetic material between
of non-sister chromatids occurs
homologous  Each bivalent is held together by at least one chiasma
chromosomes (pl. chiasmata) where a chromatid in each of the
and crossing homologous chromosomes extends over to the other
over followed homologous chromosome
by  As a result of this exchange of genetic material, new
condensation gene combinations are formed on chromatids
(recombination)

Crossing over occurs at random positions anywhere along

the chromosome
 At least one crossover occurs in each bivalent and there
can be several

Once crossing over occurs, the homologous chromosomes

condense as bivalents and then are separated in meiosis
 If crossing over occurs then all four haploid daughter
cells will be genetically distinct (sister chromatids are no
longer identical)
3. Orientation of During metaphase I, homologous chromosomes line up at
3 pairs of the equator as bivalents in one of two arrangements:
U homologous  Maternal copy left / paternal copy right OR paternal copy
5 chromosomes left / maternal copy right
prior to This is due to the attachment of spindle microtubules being
separation is not the same as in mitosis:
random.  Each chromosome is attached to one pole only, not to
both
 The two homologous chromosomes in a bivalent are
attached to different poles
 The pole to which each chromosome is attached
depends on which way the pair of chromosomes is
oriented
 Orientation of bivalents is random, so each chromosome
has an equal chance of attaching to each pole, and
eventually of being pulled to it
 Orientation of one bivalent does not influence orientation
of any others

This is the random orientation of homologous chromosomes,

resulting in the subsequent random assortment of
chromosomes into gametes
 The final gametes will differ depending on whether they
got the maternal or paternal copy of a chromosome
following anaphase I  promotes genetic variation
 Gamete combinations = 2n, where n = haploid number

3. Crossing over The advantage of meiotic division and sexual reproduction

3 and random is that it promotes genetic variation in offspring
U orientation
6 promote The three main sources of genetic variation arising from
genetic sexual reproduction are:
variation.  Crossing over (prophase I)
 Random assortment of chromosomes (metaphase I)
3. Fusion of  Random fusion of gametes from different parents
3 gametes from
U different Crossing over involves the exchange of segments of DNA
7 parents between homologous chromosomes during prophase I
promotes
 genetic  The exchange of genetic material occurs between non-
variation. sister chromatids at points called chiasmata
 As a consequence of this recombination, all four
chromatids that comprise the bivalent will be genetically
different
 Offspring with recombinant chromosomes will have
unique gene combinations that are not present in either
parent

Random orientation of bivalents results in random

assortment of chromosomes into the four haploid daughter
cells
 Orientation of each bivalent occurs independently,
meaning different combinations of maternal/paternal
chromosomes can be inherited when bivalents separate
in anaphase I
 Humans have 46 chromosomes (n = 23), and thus can
produce 223 different chromosome combinations by
random orientation
 If crossing over also occurs, the number of different
gamete variations becomes immeasurable

Random fertilisation
Fusion of two haploid gametes results in the formation of a
diploid zygote
 This zygote can then divide by mitosis and differentiate
to form a developing embryo
 As meiosis results in genetically distinct gametes,
random fertilisation by egg and sperm will always
generate different zygotes
 Identical twins are formed after fertilisation, by the
complete fission of the zygote into two separate cell
masses

3. Separation of Whereas in mitosis the centromere divides and the two

3 pairs of chromatids that make up a chromosome move to opposite
U homologous poles, in meiosis, the centromere does not divide and whole
8 chromosomes chromosomes move to the poles
in the first  Initially, the two chromosomes in each bivalent are held
division of together by chiasmata, but these slide to the end of the
meiosis chromosomes and then the chromosomes can separate
halves the  This separation of homologous chromosomes is called
chromosome disjunction
number.
The separation of homologous pairs to opposite poles halves
3. The halving of the chromosome number of the cell
3 the  Thus, the first division of meiosis is the reduction
U chromosome division
9 number  Because both nuclei formed in the first division contain
allows a one of each type of chromosome (sister chromatids being
sexual near-identical and non-homologous), they are haploid
lifecycle with
 fusion of Most sexually reproducing organisms are diploid, meaning
gametes. they have two copies of every chromosome (maternal /
paternal copy)
 Fertilisation of two haploid gametes (egg + sperm) will
result in the formation of a diploid zygote that can grow
via mitosis
 If the chromosome number was not halved in gametes,
total chromosome numbers would double each
generation (polyploidy)

3. Non- Non-disjunction refers to the chromosomes failing to

3 disjunction separate correctly at anaphase I or II, resulting in gametes
A1 can cause with one extra, or one missing, chromosome (aneuploidy)
Down
The failure of chromosomes to separate may occur via:
syndrome and
 Failure of homologous chromosomes to separate in
other
Anaphase I, resulting in four affected daughter cells
chromosome
 Failure of sister chromatids to separate in Anaphase II,
abnormalities
resulting in only two daughter cells being affected
. Studies
showing age A zygote formed form a gamete that has experienced non-
of parents disjunction will have an abnormal number of chromosomes,
influences which will often lead to the person possessing a
chances of syndrome/condition, such as:
non-  Down’s syndrome (trisomy 21)
disjunction.  Edward’s syndrome (trisomy 18)
 Patau’s syndrome (trisomy 13)

Individuals with Down syndrome have three copies of

chromosome 21 (trisomy 21)
 One of the parental gametes had two copies of
chromosome 21 as a result of non-disjunction
 The other parental gamete was normal and had a single
copy of chromosome 21
 When the two gametes fused during fertilisation, the
resulting zygote had three copies of chromosome 21
 Symptoms include hearing loss, heart and vision
disorders, and mental and growth retardation

3. Studies Studies show a strong correlation between maternal age

3 showing age and the occurrence of non-disjunction events
A2 of parents  Risk of chromosomal abnormalities in offspring increase
influences significantly after a maternal age of 30
chances of  There is a higher incidence of chromosomal errors in
non- offspring as a result of non-disjunction in anaphase I
disjunction.  Mean maternal age is increasing, leading to an increase
in the number of Down syndrome offspring

3. Methods used Karyotyping is the process by which chromosomes are

3 to obtain organised and visualised for inspection
A3 cells for  Karyotyping is typically used to determine the gender of
karyotype an unborn child and test for chromosomal abnormalities
analysis e.g.  Cells are harvested from the foetus before chemically
chorionic induced to undertake mitosis (so chromosomes become
 villus visible at prophase)
sampling and  Stage during which mitosis is arrested will determine
amniocentesi whether chromosomes will appear with sister chromatids
s and the  Finally, chromosomes are stained and photographs, from
associated which a karyogram is generated
risks.
Two procedures are used for obtaining cells containing the
foetal chromosomes needed for producing a karyotype:
 Amniocentesis involves passing a needle through the
mother’s abdomen wall, using ultrasound to guide the
needle. The needle is used to withdraw a sample of
amniotic fluid containing foetal cells from the amniotic
sac
 Chorionic villus sampling: a sampling tool enters through
the vagina and is used to obtain cells from the chorion,
one of the membranes from which the placenta develops
Chorionic villus sampling can be done earlier in the
pregnancy than amniocentesis, but whereas the risk of
miscarriage with amniocentesis is 1%, with chorionic villus
sampling, it is 2%
3.4 Inheritance

3.4 Mendel Gregor Mendel was an Austrian monk who developed the
U1 discovered the principles of inheritance by performing experiments on pea
principles of plants
inheritance  First, he crossed different varieties of purebred pea
with plants, then collected and grew the seeds to determine
experiments in their characteristics
which large  Next, he crossed the offspring with each other (self-
numbers of fertilisation), and grew their seeds to similarly
pea plants determine their characteristics
were crossed.  These crosses were performed many times to establish
reliable data trends

As a result of these experiments, Mendel discovered the

following things:
1. When he crossed two different purebred varieties
together, the results were not a blend – only one
feature would be expressed
Ex: When purebred tall and short pea plants were
crossed, all offspring developed into tall growing plants
2. When Mendel self-fertilised the offspring, phenotypes
were expressed in a ratio of ~3:1.
Ex: When the tall growing plants were crossed, tall and
short offspring were produced in a ratio of ~3:1.

Certain principles can be established from these findings:

1. Law of segregation: When gametes form, alleles are
separated so that each gamete carries only one allele
for each gene
2. Law of independent assortment: The segregation of
 alleles for one gene occurs independently to that of
other genes, except for linked genes (genes that are
located on the same chromosome)
3. Principle of dominance: Recessive alleles will be
masked by dominant alleles

Summary of inheritance:
 Organisms have discrete genes that determine its
features
 Organisms possess two alleles of each gene (maternal
+ paternal)
 For each gene, one allele is dominant over another and
will be completely expressed if present
 Each gamete contains only one allele of each gene
 Parents contribute equally to the inheritance of
offspring as a result of the fusion between randomly
selected egg and sperm

3.4 Gametes are Gametes are haploid sex cells formed by the process of
U2 haploid so meiosis – males produce sperm and females produce ova
contain one  During meiosis I, homologous chromosomes are
allele of each separated into different nuclei prior to cell division
gene.  As homologous chromosomes carry the same genes,
segregation of the chromosomes also separates the
allele pairs
 Consequently, as gametes contain only one copy of
each chromosome, they therefore carry only one allele
of each gene

3.4 Fusion of When male and female gametes fuse during fertilisation,
U4 gametes the resulting zygote will contain two alleles for each gene
results in  Exception: Males have only one allele for each gene
diploid zygotes located on a sex chromosome, as X and Y
with two chromosomes are not homologous.
alleles of each
For any given gene, the combination of alleles can be
gene that may
categorised:
be the same
 If the maternal and paternal alleles are the same, the
allele or
offspring is said to be homozygous for that gene
different
 If the maternal and paternal alleles are different, the
alleles.
offspring is said to be heterozygous for that gene
 Males are said to be hemizygous for sex-linked genes
(only one allele)

3.4 The two During meiosis, a diploid nucleus divides twice to produce
U3 alleles of each four haploid nuclei. The diploid nucleus contains two
gene separate copies of each gene, but the haploid nuclei contain only
into different one
haploid  If two identical alleles of a gene were present, each of
daughter the haploid nuclei will receive one copy of this allele.
nuclei during Ex: if the two alleles were SS, every gamete will
meiosis. receive one copy of S
 If two different alleles were present, each haploid
 nucleus will receive either one of the alleles or the
other allele, but not both. Ex: If the two alleles were Ss,
50% of the haploid nuclei would receive S and 50%
would receive s

The separation of alleles into different nuclei is called

segregation
 It breaks up existing combinations of alleles in a parent
and allows new combinations to form in the offspring

3.4 Dominant The genetic composition (i.e. allele combination) for a

U5 alleles mask specific trait is referred to as the genotype
the effects of  The genotype of a particular gene will typically be
recessive either homozygous or heterozygous
alleles, but co-
dominant The observable characteristics of a specific trait is
alleles have referred to as the phenotype
joint effects.  The phenotype is determined by both the genotype and
environmental influences

Most traits follow a dominant / recessive pattern of

inheritance, whereby one allele is expressed over the
other
 The dominant allele will mask the recessive allele when
in a heterozygous state
 Homozygous dominant and heterozygous forms will be
phenotypically indistinguishable
 The recessive allele will only be expressed when in
homozygous recessive state
 The usual reason for dominance of one allele is that
dominant alleles code for proteins that are active and
carry out a function, while recessive alleles code for
non-functional proteins

Co-dominance occurs when pairs of alleles are expressed

equally in the phenotype of a heterozygous individual
 A well-known example is the flower colour of mirabilis
jalapa: if a red-flowered plant is crossed with a white-
flowered plant, the offspring will have pink flowers
 When representing co-dominant alleles, use
superscripts: Allele for red flowers (C R); allele for white
flowers (CW); genotype of pink flowers (CRCW)

3.4 Inheritance of Human red blood cells can be categorised into different
A1 ABO blood blood groups based on the structure of a surface
groups. glycoprotein (antigen)
 The ABO blood groups are controlled by a single gene
with multiple alleles (A, B, O)

The A, B, and O alleles all produce a basic antigen on the

surface of red blood cells
 The A (IA) and B (IB) alleles are co-dominant and each
 modify the structure of the antigen to produce different
variants
 The O (i) allele is recessive and does not modify the
basic antigen structure

Genotypes and phenotypes for the different blood groups

can be summarised as follows:

The reasons for two alleles being co-dominant and the

other allele being recessive are as follows:
 All three alleles cause the production of a glycoprotein
in the membrane of red blood cells
 IA alters the glycoprotein by addition of acetyl-
galactosamine.
 IB alters the glycoprotein by addition of galactose
 i is recessive as it causes the production of the basic,
non-altered glycoprotein

As humans produce antibodies against foreign (unknown)

antigens, blood transfusions are not compatible between
certain blood groups
 AB blood groups can receive blood from any other type
(as they already possess both antigenic variants on
their cells)
 A blood group cannot receive B or AB blood as the B
antigen present would be foreign
 B blood groups cannot receive A or AB blood as the A
antigen would be foreign
 O blood groups can only receive O blood as both
antigenic variants (A & B) are foreign

Consequences of incompatible transfusion can cause a

potentially fatal immune response, involving agglutination
of red blood cells and haemolysis (rupture of red blood
cells)
3.4 Construction A monohybrid cross determines the
S1 of Punnett allele combinations for potential
grids for offspring for one gene only
predicting the  The offspring obtained by crossing
outcomes of the parents are the F1 generation
monohybrid  Offspring of a cross between two F1
genetic plants are called the F2 generation
crosses.  Gametes, alleles, and possible
outcomes should be labelled clearly

3.4 Comparison of The actual outcomes of genetic crosses do not usually

S2 predicted and correspond exactly with predicted outcomes (using
actual Punnett grids)
outcomes of  This is because here is an element of chance involved
genetic in the inheritance of genes
crosses using  Larger data sets are more likely to yield positive
real data. correlations (better fit predicted data)

3.4 Many genetic Genetic diseases are caused when mutations to a gene (or
U6 diseases in genes) prevent normal cellular function, leading to the
humans are development of a disease phenotype
due to  Genetic diseases can be caused by recessive,
recessive dominant, or co-dominant alleles
alleles of
autosomal An autosomal recessive genetic disease will only occur if
genes. both alleles are faulty
 Heterozygous individuals will possess one copy of the
3.4 Some genetic
U7 diseases are faulty recessive allele, but not develop disease
sex-linked and symptoms (they are known as carriers)
some are due Ex: cystic fibrosis
to dominant or
co-dominant An autosomal dominant genetic disease only requires one
alleles. copy of a faulty allele to cause the disorder
 Both homozygous dominant and heterozygous
individuals will develop the full range of disease
symptoms
Ex: Huntington’s disease

If a genetic disease is caused by co-dominant alleles, it

will also only require one copy of the faulty allele to occur
 However, heterozygous individuals will have milder
symptoms due to the moderating influence of a normal
allele
Ex: sickle cell anaemia

3.4 Inheritance of Cystic fibrosis

A3 cystic fibrosis  Cystic fibrosis is an autosomal recessive disorder
and caused by having two recessive alleles of the CFTR
Huntington’s gene on chromosome 7
disease.  The CFTR gene is involved in coding for a chloride ion
channel that is involved in secretion of sweat, mucus,
and digestive juices
 Possession of two recessive CFTR alleles results in
sweat containing excessive amounts of sodium
chloride, and mucus and digestive juices containing
insufficient sodium chloride being produced
 This causes mucus to be unusually thick and sticky,
clogging airways and secretory ducts of the digestive
system
 This may lead to respiratory failure and pancreatic
cysts
 Heterozygous carriers who possess one normal allele
will not develop disease symptoms
CC = normal; Cc = carrier; cc = diseased
Huntington’s Disease
 Huntington’s disease is an autosomal dominant
disorder caused by a dominant allele of the HTT gene
on chromosome 4
 A normal HTT gene (hh)
possesses a repeating
CAG sequence in low
amounts (10 – 25)
 The dominant allele of
HTT causes more than 28
CAG repeats to exist,
which is unstable and
causes the production of
even more repeats
 When the number of
 repeats exceeds ~40, the huntingtin protein will misfold
and cause neurodegeneration (degenerative changes to
the brain)
 Symptoms include uncontrollable spasms and dementia
 A person can develop the disease if only one of their
parents has the allele because it is dominant
hh = normal; HH or Hh = diseased

3.4 The pattern of Sex-linked genes refer to

U8 inheritance is when a gene controlling a
different with characteristic is located on
sex-linked a sex chromosome (X or Y)
genes due to  The Y chromosome is
their location much shorter than the X
on sex chromosome and
chromosomes. contains only a few
genes
Guidance: Like  Hence, sex-linked
co-dominant conditions are usually
alleles, sex- X-linked, as many genes
linked alleles absent from the Y chromosome exist on the X
are also chromosome
represented by
superscripts. Sex-linked inheritance patterns differ from autosomal
patterns due to the fact that the chromosomes are not
Ex: XRXr; XRY homologous in males (XY)
 This leads to the expression of sex-linked traits being
predominantly associated with a particular gender

As human females have two X chromosomes (two alleles),

they can either be homozygous or heterozygous
 Hence, X-linked dominant traits are more common in
females as either allele may be dominant and cause
disease

Human males have only one X chromosome (one allele)

and are hemizygous for X-linked traits
 X-linked recessive traits are more common in males as
the condition cannot be masked by a second dominant
allele

The following trends always hold true for X-linked

conditions:
 Only females can be carriers for a recessive X-linked
condition, males cannot be heterozygous carriers
 Males will always inherit an X-linked trait from their
mother (as they inherit the Y chromosome from their
father)
 Females cannot inherit a X-linked recessive disease
from an unaffected father (must receive his dominant
allele)
3.4 Red-green Red-green colour blindness and haemophilia are both X-
A2 colour- linked recessive
blindness and  Consequently, they are far more common in males than
haemophilia in females, as males cannot mask the trait with another
as examples dominant allele (as a carrier)
of sex-linked
inheritance. Haemophilia (XH = unaffected blood clotting; Xh =
affected/haemophilia)
Haemophilia is a genetic disorder whereby the body’s
ability to control blood clotting (to stop bleeding) is
impaired
 Blood clotting is controlled by coagulation factors
whose genes are located on the X chromosome
 When one of these factors become defective, fibrin
formation (blood clotting) is prevented, meaning
bleeding continues for a long time

Red-green colour blindness (XA = unaffected vision; Xa =

colour-blind)
Red-green colour blindness is a genetic disorder whereby
an individual cannot discriminate between red and green
hues
 This condition is caused by a mutation to genes of the
red or green retinal photoreceptors, which are located
on the X chromosome
 Condition can be diagnosed with the Ishihara colour
test

3.4 Many genetic There are over 4,000 identified single-gene defects, but
U9 diseases have most are very rare
been identified  This is because evolution prevents any allele that
in humans, but adversely affects survival (thus chances of
most are very reproduction) to be passed onto offspring
rare.  However, recessive conditions tend to be more
common as the faulty allele can be present in carriers
without causing disease (does not lower chances of
survival and reproduction)
 Dominant conditions may often have a late onset,
which also does not prevent transfer of faulty allele by
reproduction

3.4 Analysis of A pedigree chart is a chart of the genetic history of a

S3 pedigree family over several generations
charts to  Males are represented as squares and females as
deduce the circles
pattern of  Shaded symbols represent an affected individual, while
inheritance of an unshaded symbol represents a normal individual
genetic  A horizontal line between a man and woman represents
diseases. mating and resulting children are shown as offshoots to
this line
 Generations are labelled with roman numerals and
individuals are numbered according to age (oldest on
 the left)

Determining autosomal inheritance

Dominant and recessive disease conditions may be
identified only if certain patterns occur

Autosomal dominant
 If both parents are affected and at least one offspring is
unaffected, the trait must be dominant (parents are
both heterozygous)
 All affected individuals must have at least one affected
parent
 If both parents are unaffected, all offspring must be
unaffected (parents are homozygous recessive)

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 must also
exhibit the trait (parents are homozygous recessive)

Determining X-linked inheritance

It is not possible to confirm sex linkage from pedigree
charts, as autosomal traits could potentially generate the
same results
 However, certain trends can be used to confirm that a
trait is not X-linked dominant or recessive

X-linked dominant
 If male shows a trait, so too must all his daughters as
well as his mother
 An unaffected mother must have unaffected sons, an
affected mother must have affected sons
 X-linked dominant traits tend to be more common in
females (this is insufficient evidence on its own though)

X-linked recessive
 If a female shows a trait, so too must all sons as well
as her father
 An unaffected mother can have affected sons if she is a
carrier
 X-linked recessive traits tend to be more common in
males (insufficient on its own)
3.4 Radiation and A gene consists of a length of DNA, with a base sequence
U1 mutagenic that can be hundreds or thousands of bases long
0 chemicals  A gene mutation is a random change to the base
increase the sequence of a gene, affecting the structure and
mutation rate function of the protein it encodes
and can cause
genetic Factors that can increase the mutation rate:
disease and  Radiation – increases mutation rate if it has enough
cancer. energy to cause chemical chances in DNA. Ex: UV
radiation, gamma rays, X-rays
 Chemical – some chemical substances cause chemical
changes in DNA. Ex: mustard gas, nitrosamines in
tobacco smoke
 Biological agents – Bacteria (ex: Helicobacter pylori)
and viruses (ex: human papilloma virus)

Mutations are random changes – there is no mechanism for

a mutation being carried out
 Mutations are harmful as it is a random change to an
allele that has developed by evolution over millions of
years
Mutations of genes that control cell division can cause a
cell to divide endlessly and develop into a tumour
 Mutations are therefore a cause of cancer

Mutations in body cells are eliminated when the individual

dies
 However, mutations in gametes can be passed onto
offspring – this is the origin of genetic diseases

3.4 Consequences Some of the long-term consequences of radiation exposure

A4 of radiation following these disasters include:
after nuclear  An increased incidence in cancer development
bombing of  Reduced T-cell counts and altered immune functions,
Hiroshima and leading to higher rates of infection
Nagasaki and  A wide variety of organ-specific health effects (ex: liver
the nuclear cirrhosis, cataract induction)
accidents at  Thyroid disease was common following the Chernobyl
Chernobyl. incidence due to release of radioactive iodine
 While no significant increase in birth defects following
Hiroshima bombing, there was an estimated 250%
increase in birth defects following the Chernobyl
meltdown

Whereas Hiroshima is still habitable and well populated,

certain regions of Chernobyl remain unsafe for human
habitation
 This is because while more people died from the
nuclear bombing, the meltdown released far more
radiation (~400x)
 3.5 Genetic modification and biotechnology

3. PCR can be The polymerase chain reaction (PCR) is an artificial method

5 used to of replicating DNA under laboratory conditions
U amplify small  The PCR technique is used to amplify large quantities of
1 amounts of a specific sequence of DNA from an initial minute sample
DNA.  Each reaction cycle doubles the amount of DNA – a
standard PCR sequence of 30 cycles creates over 1
billion copies (230)

Stages of PCR
PCR occurs in a thermal cycler and uses variations in
temperature to control the replication process via three
steps:
1. Denaturation – DNA sample is heated to separate it into
two single strands (~95oC for 1 min)
2. Annealing – DNA primers attach to the 3’ ends of the
target sequence (~55oC for 1 min)
3. Elongation – A heat-tolerant DNA polymerase (Taq) binds
to the primer and copies the strand (~72oC for 2 min)
Once large quantities of DNA have been created, other
laboratory techniques are used to isolate and manipulate
the sequences

3. Gel Gel electrophoresis is a laboratory technique used to

5 electrophores separate and isolate proteins or DNA fragments based on
U is is used to mass / size
2 separate  Samples are placed in a block of gel and an electric
proteins or current is applied which causes the samples to move
fragments of through the gel
DNA  Smaller samples move faster through the gel, causing
according to samples of different sizes to separate as they travel at
size. different speeds
 Protein molecules with negative and positive charges
will move in opposite directions (proteins may be
separated according to their charge)
 All DNA molecules carry negative charges so move in the
same direction during gel electrophoresis
 DNA molecules from eukaryotes are too long to move
through the gel and so must be broken up into smaller
fragments using restriction endonuclease

3. DNA profiling DNA profiling is a technique by which individuals can be

5 involves identified and compared via their respective DNA profiles
U comparison of  Within the non-coding regions of an individual’s genome,
3 DNA. there exists satellite DNA – long stretches of DNA made
up of short tandem repeats (STRs)
 As individuals will likely have different numbers of
repeats at a given satellite DNA locus, they will generate
unique DNA profiles

Stages of DNA profiling:

  A sample of DNA is obtained from a known individual or
another source such as a crime scene and amplified by
PCR
 Amplified DNA is split into fragments using restriction
endonucleases.
 Satellite DNA fragments with short tandem repeat
sequences are selected and separated using gel
electrophoresis
 This produces a pattern of bands that is always the same
with an individual’s DNA – this is the DNA profile
 Profiles of different individuals can be compared to see
which bands are the same and which are different

3. Use of DNA Forensic investigations

5 profiling in Suspects should be a complete match with the DNA sample
A1 paternity and taken from the crime scene if a conviction is to occur
forensic  The number of loci used to generate a unique profile
investigations depends on the size of the population being compared
. Ex: America (population: ~320 million) uses 13 loci for DNA
profiling; Australia (population: ~25 million) uses only 9 loci

Paternity testing
Children inherit half their chromosomes from each parent
and thus should possess a combination of parental
fragments
 i.e. all fragments produced in the child should occur
3. Analysis of either in the mother’s profile or in the profile of the man
5 examples of presumed to be the father
S2 DNA profiles.  If one or more bands do not appear in the father’s profile,
another man must have been the biological father

3. Genetic A gene determines a particular trait by encoding for a

5 modification specific polypeptide in an organism
U is carried out  Because the genetic code is almost universal, an
4 by gene organism can express a new trait if the appropriate gene
transfer is introduced into its genome
between  The transfer of genes between species is called genetic
species. modification

Examples of genetic modification:

 Produce many new varieties of GM crops, such as gene
transfer from snapdragons to tomatoes to produce purple
tomatoes
 Introduce new characteristics to animal species, such as
transferring genes from spiders to goats to produce goat
milk containing spider silk protein

Genes have been also been transferred from eukaryotes to

 bacteria
 One of the earliest examples was the transfer of the
gene for making human insulin to a bacterium
 This is done so that large quantities of insulin can be
produced for treating diabetes

3. Gene transfer Gene transfer to bacteria involves plasmids, restriction

5 to bacteria enzymes, and DNA ligase
A2 with plasmids Step 1 – Isolation of gene and vectors
using  DNA can be isolated from cells by centrifugation,
restriction whereby heavier components such as nuclei are
endonuclease separated
s and DNA  The gene of interest can then be selectively amplified via
ligase. PCR
 Bacterial plasmids are usually used as vectors to carry
the gene of interest into the bacterium, as they are
capable of autonomous self-replication and can be
modified for further functionality
 Other vectors include modified viruses and artificial
chromosomes

Step 2 – Digestion w restriction

enzymes
 In order to incorporate a
gene into a bacterium
plasmid, both must be cut
with restriction enzyme at
specific recognition sites
 Restriction endonucleases
cleave the sugar-phosphate
backbone of double-stranded
DNA to generate single-
stranded sections called
sticky ends (complementary
overhangs) at the recognition
site
 Step 3 – DNA ligase reforms bonds between nucleotides
 The gene joins a plasmid that has been cut with the
same restriction endonucleases via complementary base
pairing
 However, there are still nicks in the sugar-phosphate
backbone of the plasmid DNA
 DNA ligase splices the gene and plasmid by fusing their
sugar-phosphate backbones with a covalent
phosphodiester bond to form a recombinant plasmid

Step 4 – Insertion and expression

 The vector is introduced to the bacterium host and the
bacterium is given its ideal conditions in which to grow
and proliferate
 This is done by placing the bacterium in a bioreactor, a
vat of nutritious liquid kept at a warm temperature
 The bacterium now expresses the gene and synthesises
whatever the protein the introduced gene codes for
 This process has been used to successfully make E. coli
produce human insulin, a protein needed to treat
diabetes

3. Assessment Benefits of GMOs Risks of GMOs

5 of the Nutritional value of foods Cross pollination of
A3 potential could be improved by herbicide-resistant GM
risks and introducing proteins or crops could lead to super-
benefits vitamins weeds
associated Crops can be genetically Antibiotic resistance genes
with genetic engineered to improve yield used as markers during
modification – can improve food gene transfer could spread
of crops. production in poor countries to pathogenic bacteria
Crops can be made pest- Mutation of transferred
resistant to reduce the genes could result in
amount of insecticides unexpected problems that
released into the were not risk-assessed
environment
Crops can be made drought- GM crops may limit
resistant biodiversity of local
environment due to
increased competition with
native species
Crops can be produced that Patent laws prohibit
lack known allergens farmers from re-sowing GM
seeds from crops they have
grown, making it very costly
to farm GM crops

3. Analysis of Bt corn is a genetically modified maize that incorporates an

5 data on risks insecticide-producing gene from the bacterium Bacillus
S3 to monarch thuringiensis
 butterflies of  This insecticide is lethal to certain types of larvae,
Bt crops. particularly the European corn borer which would
otherwise eat the crop

Concerns have been expressed about the effects of Bt corn

on non-target species of insects, particularly the monarch
butterfly
 The larvae of the monarch butterfly feed on leaves of
milkweed, which often times grows close enough to corn
crops to become dusted with wind-dispersed corn pollen
 There is a risk that monarch larvae might be poisoned by
Bt toxin in pollen from GM corn crops

First study investigating the association between Bt pollen

exposure and monarch larvae mortality rates:
 Monarch larvae were fed milkweed leaves that had been
dusted with pollen from Bt corn
 Growth and mortality rates were compared against
caterpillars fed on non-dusted leaves and leaves dusted
with non-GM pollen
 Caterpillars exposed to Bt pollen were found to have
eaten less, grew more slowly, and exhibited higher
mortality rates

However, it does not accurately reflect natural conditions

because:
 There were higher amounts of Bt pollen on the leaves
than would be found naturally, and rain would diminish
build up
 Larvae were restricted in their diet, such that in natural
conditions, larvae could feasibly avoid eating pollen
dusted leaves

Second study comparing mortality rates based on proximity

to Bt corn fields:
 No significant increase in mortality when monarch larvae
were placed in or near an actual Bt corn field
 From this it was concluded that exposure to Bt pollen
poses no significant risk to monarch butterfly
populations

3. Clones are Clones are groups of genetically identical organisms derived

5 groups of from a single parent cell
U genetically  Organisms that reproduce asexually will produce
5 identical genetically identical clones
organisms,  Sexually reproducing organisms can produce clones as
derived from identical twins
a single
Identical twins are either the result of a human zygote
original
dividing into two cells, each developing into a separate
parent cell.
embryo, or an embryo splitting in to two parts which each
develop into a separate individual
 Identical twins are not identical in all their
characteristics (ex: they have different fingerprints) –
 monozygotic is more appropriate than identical

3. Many plant Natural animal cloning methods

5 species and Binary fission – flatworms, bacteria, protists
U some animal  The parent organism divides equally in two, producing
6 species have two genetically identical daughter organisms
natural
Budding – Hydra and species of yeast
methods of
 Cells split off the parent organism, generating a smaller
cloning.
daughter organism which eventually separate from the
parent

Fragmentation – starfish and annelid worms

 New organisms grow from a separated fragment of the
parent organism

Parthenogenesis – certain species of insect, fish,

amphibians, and reptiles
 Embryos are formed from unfertilised ova via the
production of diploid egg cells by the female
Natural plant cloning methods
Plants can clone via vegetative propagation, whereby small
pieces of plant tissue can be induced to grow independently
 This is because adult plants possess meristematic tissue
capable of totipotent cellular differentiation

Virtually all types of roots and shoots are capable of

vegetative propagation
 Garlic and onion bulbs are modified plant leaves – all
bulbs in a group are genetically identical
 Underground stems such as potato tubers can form
genetically identical daughter plants
 Certain plants can form horizontal stems called stolons
that grow roots and develop into clones
 Some plants (algae, mosses, ferns), bacteria, and fungi
can asexually reproduce via spores

Natural human cloning methods

 Identical twins (monozygotic) are created when a
fertilised egg (zygote) splits into two identical cells, each
forming an embryo
 Non-identical twins (dizygotic) are created when an
unfertilised egg splits into two cells and each is fertilised
by a different sperm
 Identical twins will be genetically identical, while non-
identical twins will share 50% of DNA

3. Animals can Artificial cloning by manually separating an undifferentiated

5 be cloned at embryo
U the embryo At a very early stage, embryonic cells retain pluripotency,
7 state by implying they can divide and become any type of tissue
breaking up  These cells will differentiate to form all the different
the embryo tissues comprising the organism
 into more  If these pluripotent embryonic cells are separated
than one artificially in the laboratory, each group of cells will form
group of cells. cloned organisms
 Natural separation of embryonic cells will give rise to
identical twins

Separation of embryonic cells need to happen early in

development, ideally when the embryo is a morula
 The separated group of cells are then implanted into the
uterus of a surrogate to develop into genetically identical
clones

This method of cloning is limited by the fact that since the

embryo used is still being formed, nothing known about the
clones’ eventual physical traits

3. Methods have Artificial cloning by somatic cell nuclear transfer

5 been A second and more reliable method of artificial cloning
U developed for involves somatic cell nuclear transfer (SCNT)
8 cloning adult  This involves replacing the haploid nucleus of an
animals using unfertilised egg with a diploid nucleus from an adult
differentiated donor
cells.  The advantage of this technique is that it is known what
traits the clones will develop as they are genetically
identical to the donor

This method of using differentiated cells to generate cloned

embryos can be used for two main purposes:
 Reproductive cloning: If the embryo is implanted into the
uterus of a surrogate, a new cloned organism will
develop
 Therapeutic cloning: Embryonic cells can be induced to
differentiate to create specific tissues or organs for
transplantation
3. Production of Somatic cell nuclear transfer is a method by which cloned
5 cloned embryos can be produced using differentiated adult cells
A4 embryos by  Somatic cells are removed from the adult donor and
somatic-cell cultured (these cells are diploid and contain the entire
nuclear genome)
transfer.  An unfertilised egg is removed from a female adult and
its haploid nucleus is removed to produce an enucleated
egg cell
 An electric current stimulates the enucleated egg cell to
fuse with the nucleus from the adult donor to make a
diploid egg cell, containing the donor’s DNA
 About 10% of the fused diploid eggs develop like a zygote
into an embryo
 The embryo is implanted into the uterus of a surrogate
and will develop into a genetic clone of the adult donor

3. Design of an A stem cutting is a separated portion of a plant stem that

5 experiment to can regrow into a new independent clone via vegetative
S1 assess one propagation
factor  All stems possess nodes, from which a leaf, branch or
affecting the aerial root may grow – the region between nodes are
rooting of called internodes
stem-  Stem cuttings are typically placed in soil with the lower
cuttings. nodes covered and upper nodes exposed
 Stem cuttings is a common method employed to rapidly
propagate plant species, including sugar cane, grapes,
and roses

There are a variety of factors that will influence successful

rooting of a stem cutting, including:
 Length of cutting – including how many nodes remain on
the cutting
 Cutting position – whether cutting occurs above or below
a node, as well as relative proximity of the cut to the
node. With most species the stem is cut below a node
 Growth medium – whether left in soil, water, potting mix,
compost, or open air
 Use and concentration of growth hormones – ex: IAA,
IBA, and NAA promote formation of roots
 Temperature conditions – most cuttings grow optimally
at temperatures common to spring and summer
 Availability of water – either in the form of ground water
or humidity
 Other environmental conditions – including pH of the soil
and light exposure