D3.

2
Inheritance
Continuity and Change - Organisms
Guiding Questions
• What patterns of inheritance exist in plants and animals?
• What is the molecular basis of inheritance patterns?
D3.2.1 — Production of haploid gametes in parents and their
fusion to form a diploid zygote as the means of inheritance
• Students should understand that this pattern of inheritance is
common to all eukaryotes with a sexual lifecycle.

• They should also understand that a diploid cell has two copies of
each autosomal gene.
Haploid and Diploid Cells
• In most eukaryotes, the cells are diploid, meaning that there are 2 copies
of each chromosome present in each nucleus
• These pairs of chromosomes are known as homologous chromosomes

• Fertilisation involves the fusion of two gametes to form a diploid zygote

• The zygote will divide via mitosis to form the organism

• Hence to preserve the chromosomal number in the zygote, each gamete
must only have 1 set of chromosomes

• After fertilisation the zygote will have 2 sets of chromosomes

[Link]
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Diploid cells have two copies of each autosomal gene
• In the nucleus of every diploid cell, there will be 2 copies of each
chromosome
• Besides the sex chromosomes (e.g. X and Y chromosome), the
chromosomes are known as autosomes

• Each of such pairs is known as a pair of homologous chromosomes

• In each chromosome in a homologous pair there are a set of genes
present, and hence in a diploid cell there will be 2 copies of each gene
present as well

• As this only applies to non-sex chromosomes (autosomes), hence we

understand that diploid cells have two copies of each autosomal gene
D3.2.2—Methods for conducting
genetic crosses in flowering plants
• Use the terms “P generation”, “F1 generation”, “F2 generation”
and “Punnett grid”.

• Students should understand that pollen contains male

gametes and that female gametes are located in the ovary, so
pollination is needed to carry out a cross.

• They should also understand that plants such as peas produce

both male and female gametes on the same plant, allowing
self-pollination and therefore self-fertilization.

• Mention that genetic crosses are widely used to breed new

varieties of crop or ornamental plants.
Define monohybrid cross, true breeding, hybrid, P
generation, F1 and F2.
• Monohybrid cross refers a cross between two individuals with a specific focus on one single trait
controlled by one gene on a single locus.

• True breeding refers to crossing individuals until the offsprings consistently show the same trait as
both parents, and is usually used to denote something that is homozygous.

• Hybrid refers to the offspring of parents that are different in the trait, and is commonly used to
refer to a heterozygous offspring.

• P generation refers to the parental generation.

• F1 refers to the first generation of offspring from a pair of parents, and in many cases both parents
have different traits (though strictly does not need to be so).

• F2 refers to the second generation, formed when individuals from the F1 generation cross with
another from the F1 generation
 [Link]
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Performing Crosses in Flowers
• Male gametes are found in pollen grains produced in the
anthers
• Female gametes are found in the ovules within the ovaries

• For fertilisation to occur, the pollen must land on the stigma

of flowers, and a pollen tube will grow to transport the male
gametes to reach the female gametes
• This process is known as pollination

• In inheritance experiments for flowers, flowers can be

pollinated with the help of a brush [Link]
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Self Pollination and Cross Pollination
• When a pollen grain lands on the stigma of a flower from the same plant,
this is known as self pollination
• Self pollination will result in self fertilisation, and the entire thing is known
as a self cross

• When a pollen grain lands on the stigma of flower of a different plant, this
is known as cross pollination
• Cross pollination will result in cross fertilisation

• Not all plants are capable of self-pollination

• However, the pea plants used by Mendel in his experiments are capable of
self-pollination
• Mendel had noticed that the garden pea plants was either tall or dwarf.

• He crossed the homozygous (‘true-breeding’) tall and dwarf plants and

found the offspring (F1 generation) were all tall.

• The offspring were allowed to self-pollinate (so self-fertilise) to produce

the second (F2) generation.

• The progeny of this cross consisted of both tall and dwarf plants in the
ratio of 3 tall : 1 dwarf.

12
• For example, a cross between a tall pea plant and a dwarf pea plant, all the
offspring were tall. The difference in height between the two parents are
due to one gene with two alleles
• The tall parents have two copies of an allele that
makes them tall, TT

• The dwarf parents have two copies of an allele that

make them dwarf, tt

• They each pass on one allele to their offspring (F1)

which therefore has one of each allele, Tt; when the
two different alleles are combined in one individual,
the plant is tall because the allele for tallness is
dominant.

• The other allele for dwarfism is not expressed, if the

dominant allele is present and thus it is recessive
13
Steps to Constructing a Punnett Grid
• Determination of genotypes of parents

• Determine the unique gametes from each parent that can result from
segregation of alleles during meiosis

• Draw the Punnett grid using the unique gametes

• Fill in the Punnett grid of the resultant possible genotypes of the offspring

• Summarise the possible offspring genotypes and phenotypes

Parental generation (P) – the original organisms being crossed
Filial generation (F) – the offspring of a cross between the organisms of the parental
generation (F1 – first filial, F2 – second filial (using offspring from the F1 to cross) 15
• A capital letter represents the dominant allele for tall.
• A lowercase letter represents the recessive allele for short.
• In this example, T = tall; t = short

• Gametes produced by each parent are

shown along the top and left side.

• All of the tall plants have the same

phenotype, or physical characteristics.

• The tall plants do not have the same

genotype, or genetic makeup.

• One third of the F1 tall plants are TT,

while two thirds of the tall plants are Tt.
16
• The principles of probability can be used to predict the outcomes of genetic crosses.

• This Punnett square shows the probability of each possible outcome of a cross
between hybrid tall (Tt) pea plants.

• One fourth (1/4) of the F1

plants have two alleles for tallness (TT).

• 2/4 or 1/2 have one allele

for tall (T), and one for
short (t).

• One fourth (1/4) of the F1

have two alleles for short (tt).

17
Punnett
Square
Instruction Reason/notes Example

1. Choose single letter to An easy form of shorthand Coat colour in rabbits –

represent each white & brown
characteristic
2. Choose the first letter of Easy to identify when more Either W (white) or B
one of the characteristic than 1 characteristic is (brown)
studied

3. Choose letter which differ Impossible to confuse Choose B, because lower

in shape / size in lower & between the two case b is different.
upper case
[Link] case- dominant The different alleles can be Let B = brown and
allele, lower case-recessive easily identified b = white
allele
18
 Punnett Square
Instruction Reason/notes Example

5. Represent parental Makes it clear as to what Brown coat White coat

phenotypes and genotypes the symbols represent Parents colour colour
BB V bb

6. State gametes produced Explains gametes only Meiosis Meiosis

by each parent, label them possess one of the alleles;
and encircle them; meiosis encircle – they are separate
B b
Gametes

7. Use a chequerboard to Less liable to error; labelling Male

B B
show the results of random the sexes useful in studying Female

combination of gametes. sex-linked inheritance b Bb Bb

b Bb Bb
19
Punnett
Square
Instruction Reason/notes Example

7. State the To understand the All offspring are

phenotype & genotype results of the type of rabbits with a brown
of the resulting inheritance studied. coat colour (Bb).
offspring, indicating
the numbers in each
case.

 When representing inheritance using a Punnett square, it is also

essential to use the following ‘headings’ in order to understand the
explanation of a particular type of inheritance: Parental phenotype
& genotype; Gametes; Offspring phenotypes & genotypes

20
Notes
• When using the Punnett square, you need to label or explain the grid.
• Make sure genotypes are included and that the Punnett grids are clearly
annotated.
• You need to match offspring genotypes and phenotypes clearly.
• Best answers show the phenotypes of each possible type of offspring, together
with the genotype on the Punnett square.
• It is useful to add a ratio or percentages below the grid.

• In Punnett squares, parental genotypes are often missing and gametes on the
Punnett grid are usually shown but not labelled as gametes.
Make sure that parental genotypes are shown and gametes are labelled.

21
• Test cross – a test to determine the genotype of a suspected
heterozygote by crossing it with a known homozygous recessive.

• e.g. To find out whether the genotype of the purple flower is PP or Pp.
(The term backcross is no longer used.)

Predict from result: P ? x pp

If any offspring display the recessive
phenotype, the mystery parent must be
heterozygous;

If all offspring display the dominant

phenotype, the mystery parent must be
homozygous

24
D3.2.3—Genotype as the combination
of alleles inherited by an organism
Students should use and understand the terms
“homozygous” and “heterozygous”, and appreciate the
distinction between genes and alleles.
Distinguish between gene and allele
• A gene is a heritable factor that controls a specific characteristic of life
when expressed

• A gene is both a unit of inheritance (information) and a physical

segment of DNA occupying a particular location on a particular
chromosome (locus)

[Link]
[Link]
Distinguish between gene and allele
• The various specific forms of a gene are alleles
• Genes are coding for a particular trait, but can come in various
alternate forms that specifically code for a specific trait
• E.g. Hair colour vs Black hair colour or brown hair colour

[Link]
ch14/14_04Alleles_L.jpg
Compare and contrast different
alleles of the same gene
• Alleles differ from each other by only one or a few bases
• As alleles have to encode for a very similar function, which is due to
the type of protein produced, therefore the bases within the gene
cannot be too different
Example: PTC taster and non-taster alleles
• PTC (Phenylthiocarbamide) is a naturally occurring chemical that can be found in some
edible plants

• The allele for PTC taster is dominant over PTC non-taster alleles

• People who are homozygous for PTC taster or are heterozygous will taste PTC, which is
bitter tasting

• In the following slide, you will observe that there are only 3 differences in the
nucleotide sequence between the two alleles

• Note that:
• Homozygous are when both alleles in a diploid organism are the same.
• Heterozygous are when both alleles in a diploid organism are different.
D3.2.4—Phenotype as the
observable traits of an organism
resulting from genotype and
environmental factors
Students should be able to suggest examples of traits in
humans due to genotype only and due to environment
only, and also traits due to interaction between genotype
and environment.
Phenotype
• A phenotype refers to the observable traits of an individual, arising
from his genotype (the pair of alleles present for that gene)

• Phenotype can affect the physical structure, biochemical processes,

physiology and other traits in humans

• Besides the genes, the environment can also influence the

development of phenotypes in humans
Human traits due to genotypes
only
• ABO blood grouping
• Phenylketonuria (PKU)
• Sickle-cell anemia
• Haemophilia
• Red-green colorblindness
Human traits influenced by the
environment only
• Languages spoken
• Tattoos
• Scars from injuries
• Ability to play certain musical
instruments
Human traits influenced by both
genotype and the environment
• Height
• Skin tones
• Development of certain cancers (due
to genetic predispositions)
D3.2.5—Effects of dominant and
recessive alleles on phenotype
Students should understand the reasons that both a
homozygous-dominant genotype and a heterozygous
genotype for a particular trait will produce the same
phenotype.
Dominant and recessive alleles
• Diploid organisms have two alleles per gene, and the interactions
between these 2 alleles will impact the resultant phenotype

• Dominant alleles have the same effect on the phenotype of the

individual, regardless whether the individual is homozygous dominant
or heterozygous

• Recessive alleles do not have any effect at all on the phenotype

except in individuals that are homozygous recessive
D3.2.6—Phenotypic plasticity as the
capacity to develop traits suited to the
environment experienced by an
organism, by varying patterns of gene
expression
Phenotypic plasticity is not due to changes in genotype,
and the changes in traits may be reversible during the
lifetime of an individual.
Phenotypic plasticity
• Refers to the ability of an organism to produce different phenotypes
when exposed to different environmental conditions without
involving any changes to its genotype

• Examples of environmental conditions include temperature, light

exposure and humidity
Himalayan rabbit exhibiting phenotype plasticity
• In Himalayan rabbits, the expression of black pigments is carried out at cold
temperatures

• The gene responsible for the black pigments are expressed at low temperatures, leading
to black fur at the ears and extremities of the rabbits

• At higher temperatures, the gene is not expressed, and the rabbit remains completely
white

[Link]
196839424/[Link]
Changes in traits due to phenotypic
plasticity may be reversible in
lifetime of organism
• In the skin colour of humans, changes to the degree of light exposure
can restore the original skin tone of the individuals

• The fur colouration of Himalayan rabbits likewise can change in

subsequent years

• Not all traits are reversible, for example height of humans

D3.2.7—Phenylketonuria as an
example of a human disease due to
a recessive allele

Phenylketonuria (PKU) is a recessive genetic condition

caused by mutation in an autosomal gene that codes for
the enzyme needed to convert phenylalanine to tyrosine.
Phenylketonuria
• Phenylketonuria (PKU) is an inherited disorder that results in a reduced
capacity to metabolise phenylalanine

• Disease is an autosomal recessive disease

• Cause by a reduced production of the enzyme phenylalanine hydroxylase

• The end result is a toxic buildup of phenylalanine in the body, which can lead
to intellectual disability, seizures, behavioural problems and other mental
disorders in young children (during development)

• Adults may also suffer from other similar neurological symptoms

D3.2.8—Single-nucleotide
polymorphisms and multiple alleles
in gene pools
Students should understand that any number of alleles of
a gene can exist in the gene pool but an individual only
inherits two.
 Single-nucleotide polymorphism
• This refers the variability of a single nucleotide at a particular position
within a genome

• It may not necessarily be within a gene, but the impacts are observed
only if they occur within a gene

• If a single-nucleotide polymorphism occurs within a gene, the gene is

considered to have more than one allele

• This is usually the result of a point mutation, resulting in the formation

of new alleles
Multiple alleles
• A gene is generally said to have multiple alleles when there are 3 or
more possible alleles for that gene

• One example is the ABO blood grouping in humans, with 3 alleles

possible alleles present: IA, IB and i

[Link]
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[Link]
Gene pools
• A gene pool is a collection of all the genes and its associated alleles
within an interbreeding population

• It is possible to have more than 2 alleles for a particular gene in the

gene pool

• Even if there are more than two alleles for a gene within the gene
pool, an individual can only inherit two of such alleles
D3.2.9—ABO blood groups as an
example of multiple alleles
Use IA, IB and i to denote the alleles.
 Blood groups and their alleles

• The blood group of humans are controlled by a single gene

• This gene exhibits multiple alleles, which is a case when there are more than two
possible alleles for a particular gene

• For blood group, there are three alleles: IA, IB and i

• Both alleles IA and IB are dominant over i (i is the recessive allele)

• However, IA and IB exhibit codominance

• Hence, there are four different phenotypes possible for blood group in humans: A,
B, AB and O
ABO Blood Group
• Blood group A
If you belong to the blood group A, you have A antigens on the
surface of your red blood cells and B antibodies in your blood
plasma.

• Blood group B
If you belong to the blood group B, you have B antigens on the
surface of your red blood cells and A antibodies in your blood
plasma.

• Blood group AB
If you belong to the blood group AB, you have both A and B
antigens on the surface of your red blood cells and no A or B
antibodies at all in your blood plasma.

• Blood group 0
If you belong to the blood group 0 (null), you have neither A or
B antigens on the surface of your red blood cells but you have
both A and B antibodies in your blood plasma. 51
How do two parents have a child with any of the four
ABO blood groups?

• IA i for one set of parental genotype

• IB i for the other set of parental genotype

• Thus, genotypes of offspring are IAIB, IAi, IBi, ii

• phenotypes of offspring are AB, A, B, O respectively

52
Summary of ABO blood
system
1. i and IA and IB are alleles of the blood group gene

2. IA is dominant and i is recessive. IB is dominant and i is recessive

3. Group O is only with ii and Group A with IAi or IAIA and Group B with IBi or IBIB

4. IA and IB are co-dominant so Group AB with IAIB

5. one allele (copy of the gene) inherited from each parent

53
Notes
• Make sure you use standard notion in Punnett squares examining the
inheritance of blood type.

• Do not confuse the terms ‘blood group’ and blood ‘allele’. A person’s
blood group (A, B, AB or O) is determined by which combination of
three alternative alleles they have (IA , IB, i)

54
 D3.2.10—Incomplete dominance and codominance
• Students should understand the differences between these patterns of
inheritance at the phenotypic level.

• In codominance, heterozygotes have a dual phenotype.

• Include the AB blood type (IAIB) as an example.

• In incomplete dominance, heterozygotes have an intermediate phenotype.

• Include four o'clock flower or marvel of Peru (Mirabilis jalapa) as an example.

• Note: When students are referring to organisms in an examination, either

the common name or the scientific name is acceptable.
Incomplete dominance
• In some genes, one allele is not completely dominant over the other allele

• Hence in heterozygous individuals, the resultant phenotype is an intermediate

• One example is in the four o’clock flower (Mirabilis jalapa), where purebred red
flower plants crossed with purebred white flower plants results in offspring plants
that produced only pink flowers

• As the alleles for red and white flowers are not completely dominant over each
other, the heterozygous plants display incomplete dominance and the flowers are
an intermediate pink colour
Example: Mirabilis jalapa flower colour.
 If a red-flowered plant is
crossed with a white-
flowered plant, the offspring
have pink flowers.

 Alleles for red flower, CR

 For white flower is CW

 CRCW gives pink flowers

57
[Link]
Codominance
• In codominance, each of the two alleles expresses the phenotype
equally, with no blending of the traits to form an intermediate

• For example, in another plant that exhibits codominance for red and
white flower alleles, the heterozygous plant may have flowers
containing red and white patches, but no traces of pink colour (as in
incomplete dominance)
Blood group AB as an example of
codominance
• In ABO blood grouping, heterozygous
individuals with both the IA and IB
alleles have a blood group of AB.

• These individuals do not have a new

intermediate blood group, but rather
the red blood cells of such individuals
will contain both the A and B antigens
equally.
[Link]
ckeditor_assets/pictures/1514/content_ABO-Blood-groups-
475071182_974x1081.jpeg
D3.2.11—Sex determination in
humans and inheritance of genes on
sex chromosomes
Students should understand that the sex chromosome in
sperm determines whether a zygote develops certain
male-typical or female-typical physical characteristics
and that far more genes are carried by the X
chromosome than the Y chromosome.
Sex Determination in Humans
• Sex determination is by the sex chromosomes
• The rest of the chromosomes not involved in sex determination is
known as autosomes

• Humans have 22 pairs of autosomes, and 1 pair of sex chromosomes

• Females have a pair of X chromosomes (XX)

• Males have an X and a Y chromosome (XY)

• X and Y chromosomes are not homologous

X and Y
chromosome
s
• The X chromosome is longer than
the Y chromosome, and contains
more genes than the Y chromosome

• Many genes present on the X

chromosome code for traits that are
not related to sexual reproduction

[Link]
6b975f0f8149c98ec769175c1e16f65512096a0a/[Link]
D3.2.12—Haemophilia as an
example of a sex-linked genetic
disorder
Show alleles carried on X chromosomes as superscript
letters on an uppercase X.
 Haemophilia
• Haemophilia is an inherited recessive disease that diminishes a person’s ability to clot
blood and stop bleeding

• It is considered a sex-linked disease, specifically an X-linked disease, as the allele for the
disease is found only on the X chromosome and not the Y chromosome

• In order for a female to be have the condition, she must possess the recessive alleles on
both her X chromosomes

• However for males, possessing the one recessive allele on the single X chromosome
that they have will result in the disease

• Hence, the disease is more common in males than females

Haemophilia in males and females

• Using XH to denote the dominant allele for normal condition on the X

chromosome, and Xh to denote the recessive allele on the X chromosome:

• Males are either XHY or XhY

• Females can be XHXH , XHXh or XhXh , and only females who are XhXh will get
the disease will other genotypes will not

• Females with the heterozygous genotype XHXh are known as carriers, and
they have the potential to pass the allele (and the disease) to their sons
and daughters while not having the disease themselves
69
 Summary for haemophilia
1. Hemophilia is due to a recessive allele ( XH is normal allele and Xh is hemophilia allele)

2. Hemophilia is sex linked where gene is on the X chromosome.

3. Sex chromosomes in females are XX while males are XY.

4. Y chromosomes do not have the allele thus hemophiliac males are X hY.

5. As males inherit their X chromosome from their mother, they do not pass the allele to sons.

6. As males have only one copy so recessive allele is not masked.

7. Males have a 50% chance of haemophilia if mother is a carrier.

8. A carrier is heterozygous (XHXh) and as the dominant (normal) allele masks the recessive allele
so clotting is normal.

9. Females inherit one X chromosome from father and one X chromosome from mother.

[Link] males have carrier daughters.

[Link] females, hemophilia allele could have been inherited from either parent. 70
D3.2.13—Pedigree charts to deduce patterns of
inheritance of genetic disorders
Students should understand the genetic basis for the
prohibition of marriage between close relatives in many
societies.

NOS: Scientists draw general conclusions by inductive

reasoning when they base a theory on observations of
some but not all cases.
A pattern of inheritance may be deduced from parts of a
pedigree chart and this theory may then allow genotypes
of specific individuals in the pedigree to be deduced.
Students should be able to distinguish between inductive
and deductive reasoning.
Pedigree Charts
• Pedigree charts show the family history of individuals, showing
whether the members of the family tree have certain traits or not

• By convention, females are denoted with circles and males with

squares

• Additionally, by convention, affected individuals (with disease or

condition) is denoted with shading while unaffected individuals are
not shaded
 A horizontal line connecting a male and a female represents a marriage.

A circle A square
A vertical line and a
A shaded circle or represents represents
bracket connect the
square indicates a female. a male.
parents to their
that a person children.
expresses the trait.
A circle or square
that is not
shaded indicates
that a person
does not express
the trait.

Pedigree Charts 73
1st generation
(grandparents) Ww ww ww Ww

2nd generation
(parents, aunts,
and uncles) Ww ww ww Ww Ww ww

3rd generation
(two sisters)

WW ww
or
Ww

Widow’s peak No widow’s peak

(a) Is a widow’s peak a dominant or recessive trait?
74
 1st generation
(grandparents) Ff Ff ff Ff

2nd generation
(parents, aunts,
and uncles) FF or Ff ff ff Ff Ff ff

3rd generation
(two sisters)

ff FF
or
Ff

Attached earlobe Free earlobe

(b) Is an attached earlobe a dominant or recessive trait? Pedigree Charts 75

Autosomal Dominant
• The disease shows up in EVERY generation

• It affects males and females equally

• E.g: Huntington’s disease, Marfan syndrome (disorder of connective tissues – joints, vessels,
bones, muscle are all affected)

76
Autosomal Recessive
• The disease skips generations

• It affects males and females equally

• E.g: cystic fibrosis, sickle cell anaemia, Tay-Sachs disease, PKU

77
Queen Victoria was a carrier of the haemophilia allele and passed it on to 3
of her 9 children. Her eldest son, Edward VII, did not inherit the allele and so
the disease was not carried by his descendants, the present-day British Royal
Family.

78
X-linked Dominant

• It affects males and females

equally, every generation

• e.g:
Congenital Hypertrichosis

79
X-linked Recessive

• Affects mostly MALES (only need 1

copy of trait –on X chromosome)
E.g:
• Haemophilia,
• Colour Blindness (most common –
red/green),
• Duschene Muscular Dystrophy
(degeneration of muscle – begins
in childhood)

80
D3.2.14—Continuous variation due to
polygenic inheritance and/or
environmental factors
Use skin colour in humans as an example.

Application of skills: Students should understand the

distinction between continuous variables such as skin
colour and discrete variables such as ABO blood group.
They should also be able to apply measures of central
tendency such as mean, median and mode.
Discrete and continuous variation
• Traits observed can be discrete, meaning that the traits
are distinctly observed to be one of several categories,
with no shades in between
• For example, Mendel’s pea plants have either purple or
white flowers, and varying shades in between

• Continuous variation is observed in traits that exhibit a

range of traits between two polar extremes
• For example, skin colour in humans can range from dark
black skin to pale white skin
• Continuous variation usually result in a bell curve with
most of the population showing a trait that is in the
middle between the two poles
[Link]
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[Link]
88
 Phenotypes of polygenic characteristics tend to show continuous
variation

• Polygenic characteristics refer to traits that are controlled by more than one gene

• Each gene can have two or more alleles, and these genes have an additive effect
on the final trait

• This can get complex as some genes have more than two possible alleles, and the
end result is that the trait will show a wide range of possibilities

• This results in a wide range of height that a person is predisposed to have

• For most polygenic traits, the environment can also play a big role in the resultant
trait
 [Link]
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edit#slide=id.g2703b335048_0_291
D3.2.15—Box-and-whisker plots to
represent data for a continuous
variable such as student height
Application of skills: Students should use a box-and-
whisker plot to display six aspects of data: outliers,
minimum, first quartile, median, third quartile and
maximum.
A data point is categorized as an outlier if it is more than
1.5 × IQR (interquartile range) above the third quartile or
below the first quartile.
Display of Data

• In science some data can be collected from a large sample population

instead experimental data from a few setups
• This can be true in certain fields like epidemiology (study of how diseases
spread) and certain social sciences
• It is important to have effective and clear ways to display such data

[Link]
figure/tbl2/AS:667079887843340@1536055647469/Mean-calorie-intake-
[Link]
 Types of Graphs Box and Whisker Plots
Line Graph

[Link]
[Link] 301220807/figure/fig3/AS:279887534411785@1443741796255/Box-and-
[Link] graph_ver_1.png whisker-plots-of-body-mass-index-BMI-by-age-and-sex-The-lines-through-
[Link]?resize=576%2C384 [Link]
Components of a box and whisker
plot
• Maximum
• Third quartile
• Median
• First quartile
• Minimum
• Outliers

[Link]
1jXaFt72TIsLzjkoCzf3hl8RWP5f19tK8CsgsRJ_osNo/
edit#slide=id.g25b1d712984_0_122
Box and whisker plot
• The maximum and minimum of a box and whisker plot will refer to
the highest and lowest data value obtained respectively

• In a box and whisker plot, the set of data is divided into 4 equal
groups, and the values of the first quartile, median (second quartile)
and third quartile can be determined

[Link]
 Outliers
• In some box and whisker plots, outliers are
also represented

• Outliers refer to data points that do not

seem to fit into the range obtained, and
their inclusion may skew the results into
wrong directions

• By definition, outliers in box and whisker

plots are defined as data points that are
more than 1.5 times the IQR (interquartile
range) above third or below first quartile.
Outliers

[Link]
0*[Link]
AHL

D3.2.16—Segregation and
independent assortment of unlinked
genes in meiosis
Students should understand the link between the
movements of chromosomes in meiosis and the outcome
of dihybrid crosses involving pairs of unlinked genes.
Unlinked genes segregate
independently as a result of meiosis
• Unlinked genes generally refer to 2 (or more) genes that are found on
different chromosomes

• Segregation refers to distribution of the two alleles found in a pair of

homologous chromosomes, with the allele on one of the pair going
into 50% of the daughter cells and the other allele on the other
chromosome going into the other 50% of the daughter cells after
meiosis
Independent Assortment
• The arrangement of the line-up of
homologous chromosomes during
Metaphase I is random (random
orientation)

• Independent assortment refers to the

fact that the inheritance of alleles of
a gene is independent from the
inheritance of other unlinked genes,
and this arises due to random
orientation
D3.2.17—Punnett grids for predicting
genotypic and phenotypic ratios in dihybrid
crosses involving pairs of unlinked autosomal
genes
Students should understand how the 9:3:3:1 and 1:1:1:1
ratios are derived.

NOS: 9:3:3:1 and 1:1:1:1 ratios for dihybrid crosses are

based on what has been called Mendel’s second law.

This law only applies if genes are on different chromosomes

or are far apart enough on one chromosome for
recombination rates to reach 50%.

Students should recognize that there are exceptions to all

Dihybrid Crosses
• A dihybrid cross refers to a cross between two individuals, observing
the inheritance and phenotypic results in the offspring

• In unlinked genes, the inheritance of one trait does not affect the
inheritance of another trait
Mendel Dihybrid Inheritance Experiments (I)
• In one experiment conducted by Mendel, he investigate the
inheritance of seed colour and seed shape of the pea plants

• The allele for yellow seed colour (Y) is dominant over the allele for
green seed colour (y)

• The allele for round seed shape (R) is dominant over the allele for
wrinkled seed shape (r)

• When he crossed a purebred yellow, round seed plant (RRYY) with a

purebred green, wrinkled seed plant (rryy), he obtained offspring
plants that were all yellow, round seed (RrYy) in the F1 generation
[Link]
Mendel Dihybrid Inheritance Experiments (II)
• Mendel went on to cross the plants from the F1 generation with each
other (RrYy x RrYy), he obtained offspring in the ratio of 9:3:3:1

[Link]
1TjHNPOToAlSnnEdalDmSZK2BV4hEt912uxmffEUxrYs/
edit#slide=id.g2db8867a80d_0_49
 [Link]
[Link]?tr=w-512,h-512,c-force
A common mistake in dihybrid
crosses is to show the gametes
from one parent with two alleles
of one gene (e.g. Rr, RR or rr) and
the gametes from the other parent
with two alleles of the other gene
(e.g. Yy, YY or yy) when gametes
from each parent should include
one allele of each gene (e.g. ry, rY,
Ry or RY).

TIP : Alleles are usually shown side

by side in dihybrid crosses (e.g.
RrYy) rather than RYry.

In a dihybrid test cross, a double

homozygous recessive is used.
110
Cross of RrYy with homozygous
recessive plant for both traits
• When we cross a RrYy plant with a rryy plant, we can get a 1:1:1:1
ratio

[Link]
1TjHNPOToAlSnnEdalDmSZK2BV4hEt912uxmffEUxrYs/
edit#slide=id.g2db8867a80d_0_49
113
115
116
 Romeo guinea pig causes baby boom
Thursday, 30 November, 2000, 15:03 GMT
• A guinea pig called Sooty enjoyed a night of passion with 24 females after
fooling his way into their cage in south Wales.

• Sooty wooed the lady guinea pigs, one by one, and has now become the
proud father of 42 baby guinea pigs from his two nights of passion.

• His endeavours left staff at Little Friend's Farm, Hopkinstown, Pontypridd,

amazed at his stamina.

• Park owner Carol Feehan, 42, said: "I'm sure a lot of men will be looking at
Sooty with envy.
119
• "We knew that Sooty had gone missing and we looked for him everywhere but never
thought of checking the pen where we keep the females. We did a head count and
found 25 guinea pigs - Sooty was fast asleep in the corner.”

• "He was absolutely shattered - we put him back in his cage and he slept for two days."

• Staff at the farm park tourist attraction thought Sooty might have hit the jackpot, but it
was not until 10 weeks later that his night of passion started bearing fruit.

• The farm park - which is closed for the winter - is now trying to find homes for Sooty's
brood of babies.

120
121
D3.2.18—Loci of human genes and
their polypeptide products
Application of skills: Students should explore genes
and their polypeptide products in databases.
They should find pairs of genes with loci on different
chromosomes and also in close proximity on the same
chromosome.
Gene locus (plural loci)
• The locus of a gene refers to the physical location of a gene

• It includes the chromosome number that the gene is found in

• It also includes the range of nucleotide numbers (or base pairs) that
the gene is in

[Link]
Use of databases to explore genes
and their corresponding protein
products.
• There are many databases available online that shows all the
sequenced genes known

• The tools are generally user friendly, and can show the location
(locus) of genes

• In such databases like those found in the NCBI (National Center for
Biotechnology Information), it is a not only possible to determine the
gene locus, but also the polypeptide sequence of the corresponding
protein product
D3.2.19—Autosomal gene linkage
In crosses involving linkage, the symbols used to denote
alleles should be shown alongside vertical lines
representing homologous chromosomes.

Students should understand the reason that alleles of

linked genes can fail to assort independently.
 Gene loci are said to be linked if on the same chromosome

• When the gene loci are found on different

chromosomes, random orientation of
chromosomes leading to independent
assortment means that these two genes
have a 50/50 chance to be inherited together

• However, when the gene loci of two genes

are found on the same chromosome, the
same chromosome will be inherited as a unit
by a daughter cell, and these genes will
hence be found in the same daughter cell
unless genetic recombination has taken place
[Link]
images/[Link]
Unlinked and Linked Genes
• In unlinked genes, we can express an individual that is heterozygous in
2 traits in a simple manner like RrYy

• This is because it the R and r alleles will segregate independently from

the Y and y alleles

• However, in linked genes, as the R/r and Y/y alleles are found on the
same chromosome, they do not segregate independently from each
other

• As chromosomes as a unit, the arrangement of alleles of R/r and Y/y

will be inherited together
135
Example
• In this case, the parent organism is of the genotype LlPp,
but as seen in the diagram, the L and P alleles are on one
chromosome, while the l and p alleles are on the other
chromosome

• Hence, the gametes formed by this organism will either be

LP or lp
Students should be able to denote alleles in gene
linkage using vertical lines representing homologous
chromosomes
• To denote how the genes are linked, the conventional way of writing (e.g.
LlPp) is inadequate

• Hence, by convention, two vertical lines may be used to represent

homologous chromosomes (sometimes horizontal lines are used)

• Hence, LlPp can come in two forms:

L l L l

P p p P
 Monohybrid Cross Dihybrid Cross
If the genotype is Aa If the genotype is AaBb

How many types of gametes would be produced if the

genes are unlinked?

138
•In the fruit fly, the gene for body colour and the gene for wing length are located on the same autosome
chromosome

• G = allele for grey body; g = allele for black body

• L = allele for long wings ; l = allele for short wings

• The genotypes of true-breeding (homozygous) parents are:

GGLL = genotype of a grey-bodied and long-winged parent
ggll = genotype of a black-bodied and short-winged parent

• In order to show the linkage in GGLL, this notation is used:

• The two horizontal bars symbolize homologous chromosomes and show that the locus of G is on the same
chromosome as L.

• Same applied to ggll: 140

141
When two heterozygotes are mated in a normal dihybrid cross with independent
assortment of alleles, the expected ratio in the offspring is 9:3:3:1.

However, as shown in the next Figure, in cases of dihybrid cross involving linkage, the
ratio of the offspring produced is 3:1 and only the parental types with no recombinants
are observed.

142
Example including crossing over
• However, when crossing over has occurred, it is possible
for the alleles to switch between two non-sister
chromatids

• Hence, it is possible to get the gametes of Lp and lP

• However, crossing over is a rare occurrence, and

incidences of these gametes being formed is much lower
compared to the other two gametes
Normal/Wild type gametes vs Recombinant gametes
• Normal/wild type gametes refer to the gametes formed in linked genes when
crossing over has not taken place

• Recombinant gametes refer to gametes formed when crossing-over took place

between the two linked genes
147
148
149
152
153
157
Em

158
e.g. Compare unlinked genes vs linked genes using
gene A and gene B
• unlinked genes are on different chromosomes
• unlinked alleles are separated independently during meiosis
• In unlinked inheritance, there is an equal chance for all 4 options to occur (e.g. AB, Ab, aB,
ab)

• Dihybrid crosses involving linked genes do not produce Mendelian ratios

• Excluding recombinants, there is a 1:1 chance of inheriting the different options (e.g. AB or
ab)

• In linked characteristics, alleles might not migrate together if there is crossing over
(recombinants are formed).
• Crossing over occurs in prophase I of meiosis. When the sister chromatids migrate in meiosis
II, the characteristics forming gametes are different (e.g. Ab, aB)
• Formation of recombinants causes genetic variation

• Genes which are linked but are far apart on the chromosome can display independent
assortment 159
D3.2.20—Recombinants in crosses
involving two linked or unlinked genes

Students should understand how to determine the

outcomes of crosses between an individual heterozygous
for both genes and an individual homozygous recessive
for both genes.

Identify recombinants in gametes, in genotypes of

offspring and in phenotypes of offspring.
Determine the outcomes of a cross between an individual
heterozygous for both genes and an individual homozygous
recessive for both genes for a pair of linked or unlinked
genes.
• Note that in the syllabus guide, IB has specified the restricted scope of
investigating linked/unlinked gene crosses to the case stated above

• In other words, to investigate AaBb x aabb cross

• If the genes are not linked, the ratio of the cross will be 1:1:1:1

• However, in such crosses where the genes are linked, the resultant offspring
will not be in such a ratio
• The ratio will include 2 phenotypes present in large numbers, in a close to 1:1
ratio, and 2 other phenotypes present in small numbers in a 1:1 ratio with
each other
AaBb x aabb cross if genes are unlinked, the
resultant ratio of phenotypes will be 1:1:1:1

AB Ab aB ab

ab AaBb Aabb aaBb aabb

Linked genes example (I)
• Using alleles “A” dominant for red flower, “a” recessive for white flower, “B” dominant
for round seed and “b” recessive for oval seed

• The following shows the sample results of a cross between a heterozygous red-flower
round seed plant with a recessive white-flower oval seed plant, and students are
expected to determine the genotype of the red-flower round seed parent

• Red flower round seed plant (AaBb) x white flower oval seed plant (aabb)

• Offspring:
• 337 red flower oval seed offspring
• 312 white flower round seed offspring
• 24 red flower round seed offspring
• 19 white flower oval seed offspring
Linked genes example (II)
• From the scenario, the 4 possible genotypes are:
• AaBb – red flower round seed
• Aabb – red flower oval seed
• aaBb – white flower round seed
• aabb – white flower oval seed

• The 2 predominant phenotypes are red flower oval seed offspring

(Aabb) and white flower round seed offspring (aaBb)
• Given that the other parent supplied gametes that are “ab”, therefore
the wildtype/normal gametes are “Ab” and “aB”
A a

b B
Linked genes example (III)
• The other 2 phenotypes present in much smaller proportions are red
flower round seed offspring (AaBb) and white flower oval seed
offspring (aabb)

• Given that the other parent supplied gametes that are “ab”, therefore
the recombinant gametes are “AB” and “ab”, which arises only when
crossing over took place between the A and B genes A a

B b
D3.2.21—Use of a chi-squared test on
data from dihybrid crosses
Students should understand the concept of statistical
significance, the p = 0.05 level, null/alternative
hypothesis and the idea of observed versus expected
results.

NOS: Students should recognize that statistical testing

often involves using a sample to represent a population.
In this case the sample is the F2 generation.
In many experiments the sample is the replicated or
repeated measurements.
Chi-squared Test
• Chi square test is commonly used as a way to test the hypothesis
made using the data that is obtained from experiments

• This involves the use of the chi square table, which also includes the
degree of freedom (number of possible options minus 1), the p-value
(probability value) and chi square values in the chart

[Link]
%20twits/Chisquaredform_files/[Link]
Hypothesis Testing in General
• In statistical tests, a pair of hypotheses must be crafted, known as the
null hypothesis and alternate hypothesis

• The null hypothesis is one which usually states that there is no

significant different between the two data sets

• The alternate hypothesis therefore states that there is a significant

difference between the two data sets
P values
• The p-value determined from a statistical test like the chi-squared test
is a value that can be used to determine whether the null hypothesis
is accepted or rejected

• By convention, when the p-value obtained is lower than 0.05, we

reject the null hypothesis
[Link]
chi-sqaure%20distribution%[Link]
Worked Example for Monohybrid
Cross
 Worked Example for Monohybrid Cross
• In the cross, 5474 of the offspring had round seeds while 1850 of the offspring had
wrinkled seeds

• The expected (theoretical) ratio based on Mendelian laws would be 3:1

• Total offspring = 5474 + 1850 = 7324
• Expected number of round seed offspring = ¾ * 7324 = 5493
• Expected number of wrinkled seed offspring = ¼ * 7324 = 1831

• Null hypothesis: There is no significant difference between the observed ratios

(experimental data) and expected ratio (3:1) implying that the observed ratio is 3:1

• Alternate hypothesis: There is a significant difference between the observed ratios

and the expected ratio of 3:1 (implies that observed ratio is something other than
3:1)
Worked Example for Monohybrid
Cross
• Using the chi-squared test formula:
Worked Example for Monohybrid Cross
• Using statistical tools, it is determined when there is 1 degree of freedom
(2 options – 1) and a chi-squared value of 0.263, the p-value is estimated
to be 0.608

• As the p-value of 0.608 is higher than 0.05, we are not able to reject the
null hypothesis

• This would imply that we do not have sufficient evidence to conclude that
there is a significant difference between our experimental data and the
theoretical ratio of 3:1 (meaning it deviates from 3:1)

• This can be taken to show that the data is consistent with the theoretical
ratio of 3:1
Worked Example for Dihybrid Cross
• Using the earlier example of linked genes
• Red flower round seed plant (AaBb) x white flower oval seed plant (aabb)
• Offspring:
• 337 red flower oval seed offspring
• 312 white flower round seed offspring
• 24 red flower round seed offspring
• 19 white flower oval seed offspring

• We are trying to determine if the data is consistent with unlinked genes

• If the genes are unlinked, the expected ratio will be 1:1:1:1

Worked Example for Dihybrid Cross
• Null hypothesis: There is no significant difference between the ratios
of the obtained data to the expected ratio of 1:1:1:1, implying that
the obtained ratio is 1:1:1:1

• Alternate hypothesis: There is a significant difference between the

ratios of the obtained data to the expected ratio of 1:1:1:, implying
that the obtained ratio is something other than 1:1:1:1
Worked Example for Dihybrid Cross
• Given a total of 692 plants, the expected number of plants for each
category is ¼ * 692 = 173 plants
• The chi-squared test calculation is as follows:
Worked Example for Dihybrid Cross

• As there are now 4 categories of plants present, the degree of freedom is (4 – 1) = 3

• Using an online p-value calculator, a chi-squared value of 532.5 against a degree of

freedom of 3 yields an estimate p-value of less than 0.00001

• Hence, as the p-value is lower than 0.05, we reject the null hypothesis, and the alternate
hypothesis is supported

• This means that there is a significant difference between the obtained ratio (from
experimental results) and the expected theoretical ratio of 1:1:1:1, implying that the
obtained ratio is something other than 1:1:1:1

• As the results deviates from the 1:1:1:1 ratio, this would mean that the results are not
consistent with that of a cross of unlinked genes, and imply that linked genes are involved
• In any chi-squared test that produces a significant result (observed results
deviate significantly from expected results) by giving a χ2 that is bigger than
the critical value and a probability that is smaller than 0.05, the
experimental hypothesis must be reconsidered. Further genetic
investigations are required.

TIP : if a significant result is obtained in a dihybrid cross (i.e. the expected

results are significantly different from the expected Mendelian ratio), then
the most likely explanation is that the genes are linked on the same
chromosome rather than unlinked on different chromosomes.

183
Use excel to directly calculate chi-
square value
Note : When calculating the chi-square or t-test value using a
spreadsheet program such as Microsoft Excel, be aware that the value
obtained is the p value rather than the value of chi-square. As such, you
do not need to look up the critical values in the table.

If you plug in the numbers in excel, you should get a value of 0.668
which is higher than 0.05 so the null hypothesis is accepted. There is no
statistically significant difference between the observed (actual) and
expected readings.

184
Linking questions

• What are the principles of effective sampling in biological

research?

• What biological processes involve doubling and halving?

Key points (inheritance)
• genetic crosses show how haploid gametes can join to form diploid zygotes
with various combinations
• dominant alleles mask recessive ones, so usually two copies of a recessive
allele are needed in order to show the trait
• with the ABO blood type, there are multiple alleles rather than just two and
they show codominance, whereby both alleles are expressed in the phenotype
of someone with AB type blood
• in flowering plant species, red flowers crossed with white ones often give either
only red flowers or only white, but some species can produce pink flowers,
showing incomplete dominance whereby neither allele is completely dominant
• sometimes a heritable trait is controlled by a single gene, such as the colour of
the peas Mendel experimented on, whereas others are caused by multiple
genes
• haemophilia in humans is caused by sex-linked genes, whereas other
conditions, such as Huntington’s disease and PKU, are autosomal
• pedigree charts can be used to track and predict patterns of inheritance in a
family.
Key points (molecular basis)
• the X chromosome is much larger than the Y chromosome so it carries more genes

• the X and Y chromosomes from the sperm and egg will determine the sex of the
future baby

• polygenic inheritance leads to continuous variation in a trait

• single-nucleotide polymorphisms explain why different alleles can have different

outcomes, for example with a C in the place of an A, and the amino acid coded for
can therefore be different and give rise to a protein that has different properties

HL
• crosses that consider two traits can lead to ratios of 9:3:3:1 and 1:1:1:1

• crossing over during meiosis allows for a shuffling of certain zones on the
chromosomes involved which allows for greater variation in offspring.