11.

0 INHERITANCE

11.1 Variation

Variation is the small differences that exist amongst cells, individuals
and/or groups of organisms of the same species.

Variable features in plants include: height, leaf size, colour of flowers,
grain size, cob size, fruit size, drought resistance and disease resistance.

Variable features in humans include: weight, height, sex, tongue rolling,
attached earlobes and free earlobes, tongue rolling, eye colour and blood
groups. Some examples of variation are shown in fig.11.1.1.

Fig.11.1.1: Some variable characteristics in human population


It is caused either by genetic composition differences (genotypic
variation) or by the effect of environmental factors on the expression of
the genes (phenotypic variation).

Variation can be inherited (genotypic) or it can be acquired
(phenotypic).

Genotypic variation is the small differences in genetic composition
amongst individuals of the same species.

Genotypic variations are caused by differences in number, structure or
gene composition of chromosomes, for example; eye colour, body form,
and disease resistance 

Phenotypic variation is the small differences or changes that appear on
the outward appearance or expression of individuals of the same species.

Variation caused by environment may result from one factor or the
combined effects of many factors, such as climate, weather, food supply,
availability of water and actions of other organisms (symbiotic
interactions) for example a person with genes for a big stature may have
a small body for a given age due to shortage of food.

Variation may be evident in physical appearance, metabolism, fertility,
behaviour, mode of reproduction, learning and other measurable
characteristics.

Variation is classified into two groups which are; continuous variation and
discontinuous or discrete variation.
1.
Continuous variation
o
Continuous variation is a condition in which there are many possible
intermediates between two extremes for a particular characteristic.
o
Characteristics that show continuous variation are expressed by all
individuals of a specific species but to a different extent.
o
Characteristics do not show distinct divisions between the
intermediates.
o
These characteristics can have any value within a range.
o
Human height is an example of continuous variation. Height ranges
from that of the shortest person to that of the tallest person. Any
height is possible between the shortest and longest.
o
Other examples include weight, skin colour, finger length and chest
width.
o
Characteristics that show continuous variation are mainly controlled by
several genes that interact with each other or by both, genes and the
environment, for example height. A person may not grow tall in the
absence of enough food even if the person’s genetic material (DNA)
has genes for growing tall.
 o
The characteristics can be measured meaning that they are
quantitative.
o
A line graph or histogram is used to represent characteristics that
show continuous variation as shown in fig 11.1.2.

Fig.11.1.2: Line graph superimposed on a histogram showing height

of learners as percentage at a school in Zimbabwe

2.
Discontinuous variation

o
Discontinuous variation is a situation in which there are distinct classes
or clear cut differences of phenotypes for a particular characteristic.
o
It is evident where there are distinct categories for a particular
characteristic, an individual must fit in only one of the categories.
o
Human blood type is an example of discontinuous variation in which
there are only four types of blood groups (A, B, AB or O): there are no
other possibilities and there are no values in between, every person
fits in only one of the groups available.
o
There are no intermediates between categories; the characteristic
cannot usually change during course of life.
o
It is usually a result of a single gene or a small number of genes,
with no environmental influence.
 o
The characteristics cannot be measured meaning that they are
qualitative.
o
A bar graph is used to represent characteristics that show
discontinuous variation as shown in fig 11.1.3.

Fig.11.1.3: A bar graph showing blood groups of learners as

percentage at a school in Zimbabwe.

Table 11.1.1: Differences between continuous and discontinuous variation

Continuous variation Discontinuous variation

 Controlled by a lot of genes  Controlled by one or few genes
 Strongly influenced by the  Unaffected by the environment
environment
 Characteristics have a range  Characteristics have distinct
between two extreme values categories
 Tends to be qualitative  Tends to be quantitative
 It is plotted on a histogram or  It is plotted on a bar graph
line graph

Causes of variation

Causes of variation are classified into two categories which are; genetic
and environmental causes.

1.
Genetic causes of variation

These causes of variation lead to permanent changes to the phenotype of
an individual.

They can be inherited or passed on to offspring because they are
influenced by genetic make-up of an organism.

A.
Mutations
o
They are random and rare errors in the copying and/or division of
DNA during process of cell division.
o
These errors are divided into gene and chromosomal mutations.
o
Gene mutation occurs when there is a change in the structure of the
gene in DNA, for example in case of sickle cell anaemia where the
structure of haemoglobin has been altered.
o
Chromosomal mutation occurs when chromosomes fail to separate
properly during meiosis for example in case of Down’s syndrome.
o
Mutations are caused by number of factors such as carcinogens and
excessive exposure to radiation.

B.
Sexual combination
o
This refers to the fact that any mating between two individuals
produces offspring with a genetic composition different from either of
its parents.
o
Random mating and fertilisation amongst individuals also ensures
an unlimited range of gene combinations due to shuffling of genes.
o
This is a significant source of variation within a population, since it
produces many different combinations of characteristics.
o Sexual reproduction can produce greater variation unlike asexual
reproduction, where the only cause of variation is mutation. 

C.
Meiosis
o
During different stages of meiotic cell division DNA (Deoxyribonucleic
acid) on one chromosome may be broken and then joined to that of
other chromosomes.
o
The most common form of this is crossing-over during meiosis where
DNA is exchanged between two chromosomes.
o
Random alignment or independent assortment of chromosomes
ensures various and different combinations of chromosomes in
gametes.
 o
This type of cell division produces four genetically different
daughter cells.

D.
Horizontal gene transfer
o
It refers to any process that can move DNA between individuals in a
method other than inheritance (or vertical gene transfer).
o
Viruses called bacteriophages (feed on bacteria) can transfer DNA
between bacteria, even completely unrelated bacteria.
o
Bacterial conjugation is another way of transfer, where genetic
material is exchanged between two bacteria by temporarily attaching
to each other.
o
This is a very important process in evolution of single-celled organisms
like bacteria.

2.
Environmental causes of variation


These causes of variation lead to temporary changes to the phenotype of
an individual and they can be reversed.

Characteristics resulting from the effect of the organism’s environment
are also called acquired characteristics.

They cannot be inherited or passed on to offspring because they are not
influenced by genetic make-up of an organism.
A.
Climate
o
Individuals of the same species living in different climates may show
some variation due to exposure to different environmental conditions.
o
If a black Zimbabwean individual relocates to Europe he or she may
develop a lighter skin tone due to cooler climatic conditions in Europe
than in Zimbabwe.
o
This lighter skin tone, however, cannot be inherited by the individual’s
offspring.

B.
Aspect
o
This refers to the direction to which a slope is facing.
o
Individual plants on slope facing North direction in the southern
hemisphere receive more light than individuals on slope facing south.
o
This consequently leads to a variation where individuals on North slope
grow bigger (with larger fruits) compared to those on the South facing
slope.
 C.
Diet
o
It is what an individual eats or consumes.
o
A person might inherit a characteristic to be tall, but a poor diet during
childhood may cause stunted growth.
o
The size and rate of growth of individuals depend on availability of
food resources.

D.
Competition
o
Struggle to acquire limited resources in the environment leads to
variation amongst individuals of the same species.
o
Trees that receive more light grow taller and put shade on those that
receive limited light.
o
Individuals that receive less light will show stunted growth.

E.
Lifestyle
o
Lifestyle refers to the way an individual leads one’s life.
o
Human individuals who like eating a lot of food especially fast fatty
foods tend to be overweight and obese as compared to individuals who
prefer home cooked healthy food.
o
Difference in lifestyle leads to variation amongst individuals.

Challenges of determining actual cause of variation


It must be noted that there are difficulties in pin-pointing the causes of
variation because there is a lot of overlapping within the sources and
results of variation.

Some characteristics are difficult to classify as either continuous or
discontinuous variation.

However the simple guideline is “It is continuous variation if it can be
measured and given a numerical value”.

11.2 Chromosomes and genes

Chromosomes

They are threads of genetic material tightly coiled around proteins called
histones.

Chromosomes are located in the nucleus and they carry hereditary
material called DNA.

They can only be seen under a high resolution electron microscope as a
mass of dark material on the centre of the nucleus of a cell.

Chromosomes are normally visible in the nucleus during cell division as
shown in fig.11.2.1.

Their shapes and sizes vary depending on the function and number of
genes they contain.

Fig.11.2.1: Structure of a chromosome


A complete set of chromosomes in a nucleus of a somatic or body cell of
a human is made up of 23 pairs or 46 chromosomes.

Each pair of similar chromosomes is called homologous chromosomes,
one chromosome from each parent brought together at fertilisation.

However nuclei of gametes or sex cells are made of 23 chromosomes
(half the number in nucleus of body cells).

During mitosis homologous chromosomes copy themselves to produce
identical chromosomes.

The nucleus will then divide into two, forming genetically identical nuclei
and cells as shown in fig.11.2.2 below.
Fig.11.2.2: Behaviour of chromosomes during mitosis


During meiosis homologous chromosomes copy themselves and appear
as four chromatids that can exchange parts of DNA.

Each of the four chromatids will separate from the rest to form a nucleus
that contains half the number of chromosomes than the parent cell.

This type of cell division produces four gametes with genetically different
nuclei as shown in fig.11.2.3 below.

Fig.11.2.3: Behaviour of chromosomes during meiosis

Gene

It is the functional and structural unit of heredity.

It is a specific part or length of DNA that is responsible for controlling a
specific function or characteristic for example eye colour, height, and skin
colour.

It is a length of DNA that codes for production of a specific protein that is
different enzymes are controlled by different genes (fig.11.2.4).

Fig.11.2.4: Genes at various loci (positions) on a chromosome

Allele

It is any of two or more alternative forms of the same gene, for example
A, B, and O are alternative forms of a gene that controls blood type.

Alleles exist in pairs in humans because each of the homologous
chromosomes contains one allele of the same gene on the same locus.
(fig.11.1.5).

Every person has maximum of two possibilities either homozygous (both
alleles are identical) or heterozygous (the two alleles are different).

“Homo-“refers to same and “Hetero-“refers to different.
Fig.11.2.5: Homozygous and heterozygous alleles on homologous
chromosomes

11.3 Monohybrid inheritance


It is a single-factor inheritance or inheritance with interest to one
characteristic.

“Mono-“refers to one or single.

Inheritance is the transmission or passing on of genetic information from
parent to offspring.

There are many types of inheritance but this section will dwell on
complete dominance and codominance.

Important definitions

Dominant

It refers to an allele that is always expressed in phenotype if it is present.

It is always represented by capital letters for example T, G.

Recessive

It is an allele that is only expressed in phenotype when there is no
dominant allele of that particular gene.

It also refers to an allele that is only expressed in phenotype when it is
paired with another of the same type.

It is always represented by small letters for example t, g.

Genotype

It is the genetic makeup of an organism.

It is usually represented by a pair of letters in monohybrid genetic
diagrams for example TT, Tt or tt.

Phenotype

It the physical or other features of an organism due to both its genotype
and environment for example eye colour or height.

Homozygous

It is a condition of having two identical alleles of a particular gene.

“Homo-“means the same.

There are two types of homozygous alleles;

1.
Homozygous dominant for example TT.
2.
Homozygous recessive for example tt.


Two identical homozygous individuals that breed together will be pure
breeding and will produce a pure breed (individual with identical alleles
for a specific characteristic).

Heterozygous

It is a condition of having two different alleles of a particular gene for
example Tt.

This condition produces hybrids (combination of different genotypes).

1.
Complete dominance

It is a kind of inheritance where one allele (dominant) completely
overshadows or masks the effect of the other allele (recessive) in
heterozygous condition.

Phenotypes of homozygous dominant and heterozygous are similar
amongst individuals.
Predicting possible outcomes in monohybrid using genetic crosses

A certain school in Zimbabwe rears animals including rabbits for an
Agriculture project.

Fur colour in rabbits show complete dominance, rabbits that can have
either black or white fur/hair.

This implies that fur colour is determined by a gene which comes in two
different alleles; for black and for white.

A black pure breed and white pure breed rabbits were allowed to mate.

Let black hair be controlled by a dominant allele represented by B and
white by a recessive allele presented by b.

There are three possible combinations of the alleles (genotypes):
o
BB (homozygous dominant) – Black.
o
Bb (heterozygous) – Black.
o
bb (homozygous recessive) – White.

The genetic cross in fig.11.3.1 below shows possible outcomes of a
cross between the two pure breed rabbits.

NB: Bear in mind that these are theoretical and probability studies.
Fig.11.3.1: Genetic cross diagram of first generation monohybrid
inheritance of fur colour in pure breed (homozygous) rabbits


A Punnet square can also be used to show possible outcomes of a cross.

Fig.11.3.2: Punnet square diagram of first generation monohybrid

inheritance of fur colour in pure breed (homozygous) rabbits.

If any two offspring of F1 (first filial generation) in fig.11.3.1 are crossed
they will show different outcomes.

The parents will now change from pure breeds (homozygous) to hybrid
(heterozygous) as shown in fig.11.3.3.

Fig.11.3.3: Genetic cross of second generation monohybrid inheritance of

fur colour in hybrid (heterozygous) rabbits


Important hints to note when doing genetic diagrams are:

o
Alleles are represented by letters;
o
Alleles controlling the same characteristic are given the same later;
 o
The dominant allele is represented by a capital letter and recessive
allele by a small letter, and;
o
In case where the question has not instructed you to use specific letters
to represent alleles, choose to use letters in which the capital letter is
different from the small letter for example Rr, Bb, Gg, Aa not Cc, Ww,
Oo, Ss, because they are difficult to distinguish.

The recessive test cross


It is also referred to as the back cross.

When you want to determine the genotype of a black rabbit which may
either be homozygous dominant or heterozygous you must cross it with a
homozygous recessive (white) rabbit.

The white rabbit will produce gametes with recessive allele b only.

A black homozygous rabbit will produce gametes with dominant allele B
only.

If the black rabbit is homozygous dominant (BB) all the offspring from
the cross will be black heterozygous (Bb) rabbits.

Half the gametes from a black heterozygote would carry B and half would
carry allele b.

So if a rabbit is heterozygous black, half of the offspring from the cross
will be black Bb and half will be white bb.

2.
Codominance

It is a condition where paired alleles of a gene completely produce their
effect or are fully expressed in phenotype of an individual.

This means that neither allele is dominant over the other for example
human blood groups A and B.

Alleles of blood groups A and B are codominant.

If a person inherits alleles for blood group A and B then the individual’s
red blood cells will carry both antigen A and B which results in blood
group AB.

However alleles for groups A and B are both completely dominant over
the allele for group O.

Table11.3.1: Phenotype and genotype of human blood groups

 Blood group Genotype
(Phenotype)
A IAIA or IAIO
B IBIB or IBIO
AB IAIB
O IOIO


Since alleles for blood group A and B are dominant over group O, a
person with blood group A can have a genotype IAIA (homozygous) or IAIO
(heterozygous) and a person with blood group B can have genotype I BIB or
IBIO.

There are no alternative genotypes for groups AB and O.

A cross between a heterozygous blood group A and heterozygous blood
group B results in offspring with all possible human blood types as shown
in fig.11.3.4.

Fig.11.3.4: Genetic cross showing codominance in human blood groups

Sex determination in mammals

Sex is determined by sex chromosomes and there are two types; X and Y
chromosomes.

Combination of two X chromosomes from sperm and ovum results in a
female (XX) but a combination of X and Y chromosomes results in a male
(XY).

Structurally the Y chromosome is shorter than the X chromosome.

During meiosis in ovaries, each ovum receives one of the two X
chromosomes.

During meiosis in the testes one sperm receives X chromosome and the
other receives Y chromosome.

This implies that male individuals determine the sex of offspring in
mammals.

If a sperm containing X chromosome fertilises an ovum the zygote will be
XX and will develop into a female.

If a sperm containing Y chromosome fertilises an ovum the zygote will be
XY and will develop into a male.

There is an equal chance of a sperm containing X or Y chromosome to
fertilise an ovum, meaning that there is equal chance of having a male or
female offspring as shown in fig.11.3.5.
Fig.11.3.5: Genetic cross representing sex determination in mammals

Pedigree

It is a diagram that shows genetic relationships between members of a
family.

It is used to analyse patterns of inheritance for specific genetic
characteristics.

It is also called family tree diagram.

Information from a genetic cross can also be represented on a pedigree.

Rules for showing a genetic diagram

Horizontal line links parents

Vertical lines link parents to their offspring

Male without a condition Male with a condition

Female without a condition Female with a condition


The pedigree below shows the inheritance of recessive gene that causes
albinism across two generations in a family.

Fig.11.3.6: Pedigree showing inheritance of allele for albinism


From fig.11.3.6 it can logically be concluded that;

o
Albinism is controlled by a recessive allele because parents without
albinism (1 and 2 or 6 and 7) produce offspring with the condition.
o
Individuals 1, 2, 6 and 7 are heterozygous or carriers of the recessive
genes because they show a normal phenotype but their offspring has
albinism.
o
Individuals 8 and 9 are heterozygous or carriers because their father
(4) is homozygous recessive so he can only pass on recessive alleles
to his offspring.
o
Individual 4 and 11 are homozygous recessive and they have albinism.
o
Parents 1 and 2 have three offspring, one son and two daughters.

Mutations in humans

1.
Sickle cell anaemia

It is a hereditary condition in which a mutated form of haemoglobin
distorts the red blood cells from smooth biconcave to a crescent shape
that is inefficient in transporting oxygen.

This occurs when there is an error in the gene that instructs the
production of normal haemoglobin and its starts to command for the
production of abnormal haemoglobin that malfunctions.

Red blood cells become distorted or "sickle-shaped" if oxygen
concentration falls and they tend to interrupt blood flow in small blood
vessels like capillaries, as shown in fig 11.3.7.

The allele that causes sickle cell anaemia is recessive (HbS) to the allele
that codes for normal (HbA) haemoglobin.

Heterozygous (HbAHbS) individuals do not usually exhibit any symptoms
but because their offspring may inherit the disease, the heterozygotes are
called carriers.

Under conditions such as high elevation and intense exercise, a carrier of
the sickle cell allele may occasionally show symptoms such as pain and
fatigue.

Presence of the sickle cell allele results in resistance to malaria, because
the parasites that cause this disease are killed inside sickle-shaped blood
cells.

Fig.11.3.7: Structure and behaviour of normal and sickle shaped red blood
cells
2.
Albinism
  
It is an inherited disorder characterised by the absence of pigment in the
eyes, skin and/or hair.

Albinism is caused by an error in one of several genes that produce or
distribute a black pigment called melanin.

The defect may result in the absence of melanin production or a reduced
amount of melanin production as shown in fig.11.3.8.

Albinism is caused by a recessive allele meaning that it is only expressed
in individuals who are homozygous recessive for the gene that produces
melanin.

People with albinism show the following symptoms:

o
Absence of color in the hair, skin, and/or eyes.
o
Lighter than normal coloring of the hair, skin, or eyes.
o
May have patches of skin that have an absence of color.
o
Vision problems.

Fig.11.3.8: An individual with albinism


It has no cure but individuals with albinism are advised to protect
themselves from the sun.

3.
Down’s syndrome


It is a genetic disorder caused by an error in meiosis that results in the
presence of an extra copy of chromosome number 21.

When a cell divides in meiosis, pairs of chromosomes and chromatids are
separated so that one of the pair goes to one cell and the other from the
pair goes to the other cell.

Sometimes an error may occur in females resulting in failure of
chromosomes to separate.

Both chromosomes from one pair will go into one egg or ova and no
chromosomes for that pair will go into the other cell.

If an egg containing an extra chromosome is fertilised by a normal sperm
(with 23 chromosomes), the zygote and consequently embryo with have
cells containing 47 chromosomes instead of 46.

Individuals with this disorder may have a shorter expected life span than
normal because they are susceptible to infectious diseases and heart
defects.

Fig.11.3.9: A child with Down’s syndrome


Symptoms of Down’s syndrome include:

o
Distinctive facial features, such as a flat face, small ears, slanting
eyes, and a small mouth as seen in fig.11.3.9.
o
A short neck, arms and legs.
o
Low muscle tone and loose joints. Muscle tone usually improves
with age.
o
Below-average intelligence.


Risk of having a baby with Down syndrome is high if:
o
A woman is old approximately the age 35 and older.
o
An individual has a brother or sister who has the disorder.
o
A person had another baby with Down syndrome.