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GENETICS
It is the study of inherited characteristics
it was pioneered by Gregor Mendel who studied traits in garden peas
TERMS
Gene: a unit of inheritance. Each gene controls a character e.g. flower position
Gene locus: position of an allele within a DNA molecule
Allele or allelomorphs: two or more alternative forms of a gene which express contrasting traits of same character e.g.: t &
t are alleles of plant height in pea plant.
Dominant allele: an allele which influences the appearance of the phenotype even in the presence of an alternative allele e.g.:
“T” for tall
Recessive allele: an allele which influences the appearance of the phenotype only in the presence of another identical allele
e.g.: “t” for dwarf
Homozygous: the diploid condition in which the alleles at a given locus are identical e.g.; tt, TT
Heterozygous: the diploid condition in which the alleles at a given locus are different [e.g. Tt]
P generation: it is the parental generation
Genotype: The genetic constitution of an organism with respect to the alleles under consideration e.g. AA, aa Aa
Phenotype: the observable characteristics of an individual usually resulting from the interaction between the genotype and
the environment in which development occurs e.g. axial and terminal
F1 generation: The generation produced by crossing homozygous parental stocks
F2 generation: The generation produced by crossing two F1 organisms
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Monohybrid Inheritance
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This refers to the inheritance of a single character only
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Resulted in the postulation of Mendel’s 1st law i.e. the Principle of segregation which states that:
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“The characteristics of an organism are determined by internal factors which occur in pairs. Only one of of a pair of
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such factors can be represented in a single gamete”
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Let the allele for round seeds be: R (dominant allele)
Let the allele for wrinkled seeds be: r (recessive allele)
Parents phenotype round seeds x wrinkled seeds
genotype RR rr
gametes
F1 generation
F1 genotype All Rr
F1 phenotype All Red
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2nd generation
Parents phenotype round seeds x round seeds
genotype Rr Rr
gametes or or
fertilisation
F2 genotype RR Rr Rr rr
F2 phenotype Red Red Red White
Phenotypic ratio 3:1 Round seeds: wrinkled seeds
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Does the observed ratio match the theoretical ratio?
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The theoretical or expected ratio of plants producing round or wrinkled seeds is 3 round :1 wrinkled
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Mendel’s observed ratio was 2.96:1
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The discrepancy is due to statistical error
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The observed ratio is very rarely the same as the expected ratio
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The larger the sample the more nearly the results approximate to the theoretical ratio
Statistical tests such as the chi-squared test can be used to test the closeness of fit of the observed and theoretical ratios
The Test Cross
You can see an individual’s phenotype, but you can’t see its genotype.
If an individual shows the recessive trait (white flowers in the above example) then they must be homozygous recessive as
it’s the only genotype that will give that phenotype.
If they show the dominant trait, then they could be homozygous dominant or heterozygous.
You can find out which by performing a test cross with a pure-breeding homozygous recessive.
This gives two possible results:
If the offspring all show the dominant trait, then the parent must be homozygous dominant.
If the offspring are a mixture of phenotypes in a 1:1 ratio, then the parent must be heterozygous.
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Dihybrid Inheritance
This refers to the inheritance of two characteristics at the same time
It resulted in the postulation of Mendel’s 2 nd law i.e. the principle of independent assortment which states that:
‘Any one pair of a characteristics may combine with either one of another pair’
One example of his dihybrid crosses goes as follows: The two traits are seed shape and seed colour. Round seeds (R) are
dominant to wrinkled seeds (r), and yellow seeds (Y) are dominant to green seeds (y). With these two genes there are 4
possible phenotypes:
In summary, Mendel’s dihybrid looked like this:
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All 4 possible phenotypes are produced, but always in the ratio 9:3:3:1. Mendel was able to explain this ratio if the factors
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(genes) that control the two characteristics are inherited independently; in other words, one gene does not affect the other.
This is summarised in Mendel’s second law (or the law of independent assortment), what states that alleles of different genes
are inherited independently.
The dihybrid cross can be explained in detail ass follows:
First generation
P1 phenotype: round yellow x wrinkled green
P1 genotype RRYY rryy
P1 gametes
Fertilisation
F1 genotype RrYy
F1 phenotype all round yellow
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Second generation
F1 phenotype round yellow x round yellow
F1 genotype: RrYy RrYy
Gametes
Fertilisation
F2 genotype RRYY RRyy rrYY rryy
RRYy Rryy rrYy
RrYY
RrYy
F2 phenotype round yellow round green wrinkled yellow wrinkled green
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F2 ratio 9 : 3 : 3 : 1
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Dihybrid Test Cross
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There are 4 genotypes that all give the same round yellow phenotype. Just like we saw with the monohybrid cross, these four
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genotypes can be distinguished by crossing with a double recessive phenotype i.e. the dihybrid test cross.
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This gives 4 different results:
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Sex Linkage
This refers to the carriage of genes on the sex chromosomes
The X and Y chromosomes don’t just determine sex, but also contain many other genes that have nothing to do with sex
determination.
The Y chromosome is very small and seems to contain very few genes, but the X chromosome is large and contains thousands
of genes for important products such as rhodopsin, blood clotting proteins and muscle proteins.
Females have two copies of each gene on the X chromosome (i.e. they’re diploid), but males only have one copy of each gene
on the X chromosome (i.e. they’re haploid).
This means that the inheritance of these genes is different for males and females, so they are called sex linked
characteristics.
Males have one X and one Y chromosomes are thus referred to as a heterogametic sex(XY) whereas females have two X
chromosomes and are thus referred to as a homogametic sex(XX)
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The first example of sex linked genes discovered was eye colour in Drosophila fruit flies.
Red eyes (R) are dominant to white eyes (r) and when a red-eyed female is crossed with a white-eyed male, the offspring all
have red eyes, as expected for a dominant characteristic (left cross below).
However, when the opposite cross was done (a white-eye male with a red-eyed female) all the male offspring had white eyes
(right cross below). This surprising result was not expected for a simple dominant characteristic, but it could be explained if
the gene for eye colour was located on the X chromosome.
Note that in these crosses the alleles are written in the form XR (red eyes) and Xr (white eyes) to show that they are
on the X chromosome.
Males always inherit their X chromosome from their mothers, and always pass on their X chromosome to their
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daughters.
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Another well-known example of a sex linked characteristic is colour blindness in humans. 8% of males are colour blind, but
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only 0.7% of females.
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As explained above, the genes for green sensitive and red-sensitive rhodopsin are on the X chromosome, and mutations in
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either of these lead to colour blindness.
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The diagram below shows two crosses involving colour blindness, using the symbols XR for the dominant allele (normal
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rhodopsin, normal vision) and Xr for the recessive allele (non-functional rhodopsin, colour blind vision).
Other examples of sex linkage include haemophilia, premature balding and muscular dystrophy.
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Codominance
In most situations (and all of Mendel’s experiments) one allele is completely dominant over the other, so there are just two
phenotypes.
But in some cases there are three phenotypes, because neither allele is dominant over the other, so the heterozygous
genotype has its own phenotype.
This situation is called codominance or incomplete dominance because both alleles of a characteristics express
themselves equally in the phenotype
Since there is no dominance we can no longer use capital and small letters to indicate the alleles, so a more formal system is
used.
The gene is represented by a letter, and the different alleles by superscripts to the gene letter.
A good example of codominance is flower colour in snapdragon ( Antirrhinum) plants. The flower colour gene C has two alleles:
CR (red) and C W (white).
The three genotypes and their phenotypes are:
The monohybrid cross looks like this:
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Another example of codominance is sickle cell haemoglobin in humans.
The gene for haemoglobin Hb has two codominant alleles: HbA (the normal gene) and HbS (the mutated gene).
There are three phenotypes:
HbAHbA : Normal. All haemoglobin is normal, with normal red blood cells.
HbAHbS : Sickle cell trait. 50% of the haemoglobin in every red blood cell is normal, and 50% is abnormal. The red blood cells
are slightly distorted, but can carry oxygen, so this condition is viable. However, these red blood cells cannot support
the malaria parasite, so this phenotype confers immunity to malaria.
HbSHbS : Sickle cell anaemia. All haemoglobin is abnormal, and molecules stick together to form chains, distorting the red blood
cells into sickle shapes. These sickle red blood cells are destroyed by the spleen, so this phenotype is fatal.
Other examples of codominance include coat colour in cattle (red/white/roan), and coat colour in cats
(black/orange/tortoiseshell).
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Multiple alleles
This is a situation which arises when a gene has more than two possible alleles
Any two of these alleles may be passed e.g. the ABO blood groups I humans is determined by a gene I which has 3 different
alleles
The red blood cell antigen is coded for by the gene I (for isohaemaglutinogen), which has three alleles I B , IA and IO. (They are
written this way to show that they are alleles of the same gene.)
IB and IA are codominant, while IO is recessive. The possible genotypes and phenotypes are:
The cross below shows how all four blood groups can arise from a cross between a group A and a group B parent.
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Family pedigrees
Until now, the examples that have been used have solved problems using genetic crosses in tables. These are known as
Punnett squares. However, an alternative genetic diagram is the family pedigree.
One example is shown below, using DMD (Duchenne muscular dystrophy) as the disorder.
The DMD gene for a muscle protein called dystrophin is on the X chromosome in humans. Mutations of this gene result in a
deficiency of dystrophin and is production.
Boys with the disease develop muscle weakness in early childhood and are usually wheelchair-bound by the age of ten. Death
often occurs due to skeletal and cardiac muscle degeneration by the early 20s. An example family pedigree for DMD is shown.
Such family pedigrees can be used to work out the genotypes of particular family members.
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Explain, using examples, how the environment may affect the phenotype of an organism.
Variation in expression or phenotype of a trait results from interaction of genotypes with environment.
Due to environment, the expression of genes is limited, eg size, mass, height, are examples of variable expression of genes
because supply of food, nutrients, ions, etc may affect such traits
Due to malnutrition, iron or proteins or some minerals missing in the diet, growth of a body may be affected
A favourable environment may trigger/ switch on a specific gene, e.g. at low temperature colour of animals may change and
at high temperature, wings of drosophila are curled.
Exposure to UV light causes melanin synthesis by skin cells and skin becomes dark.
Different wavelengths of light causes flowering, germination of seeds and change in fruit colour in certain plants.
Usually traits controlled by polygenes are affected by environment to a greater extent
Sometimes environment can induce mutation, causing change of phenotype
Explain, using examples, mutation may affect the phenotype of an organism.
As a result of a mutation there are three possible phenotypic effects:
Most mutations have no phenotypic effect. These are called silent mutations, and we all have a few of these.
Of the mutations that have a phenotypic effect, most will have a deleterious effect. Most of the proteins in cells are enzymes,
and most changes in enzymes will stop them working (because there are far more ways of making an inactive enzyme than
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there are of making a working one).
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When an enzyme stops working, a metabolic block can occur, when a reaction in cell doesn't happen, so the cell's function is
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changed.
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An example of this is the genetic disease phenylketonuria (PKU), caused by a mutation in the gene for the enzyme
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phenylalanine hydroxylase.
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This causes a metabolic block in the pathway involving the amino acid phenylalanine, which builds up, causing mental
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retardation.
Very rarely a mutation can have a beneficial phenotypic effect, such as making an enzyme work faster, or a structural protein
stronger, or a receptor protein more sensitive.
A small mutation in a control gene can have a very large phenotypic effect, such as developing extra limbs or flowering more
often.
Although rare, these beneficial mutations are important as they drive evolution.
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Evolution and Natural Selection
Darwin and Wallace proposed that natural selection is the mechanism by which new species arise from pre-existing species
This hypothesis/ theory is based on three observations and two deductions which may be summarized as follows:
Observation 1: individuals within a population produce on average more offspring than needed to replace themselves
Observation 2: The numbers of individuals in a population remain approximately constant
Deduction 1: Many individuals fail to survive to reproduce. There is a ‘struggle for existence’ within a population
Observation 3: Variation exists within all populations
Deduction2 3: In the ‘struggle for existence’, those individuals showing variations best adapted to their environment have a
‘reproductive advantage’ and produce more offspring than less adapted organisms.
Deduction 2 offers a hypothesis called natural selection
Natural selection
Since all individuals within a population show variations and a struggle for existence is there, it follows that some individuals
possessing particular variations will be more suited to survive and reproduce
The key factor determining survival is adaptation to the environment
Any variation, however small, be it physical, physiological, or behavioural, which gives one organism an advantage over the
other organism will act as a selective advantage in the ‘struggle for existence’
The phrase ‘survival of the fittest’ was used before but ‘fit’ meant ‘better adapted to the environment’ not to denote some kind
of physical contest between members of a species
Favourable variations will be inherited by the next generation.
Unfavourable variations are ‘selected against’ their presence conferring a selective disadvantage on that organism
Darwin gave an example of giraffe necks
He explained the giraffe's long neck as follows: In a population of horse-like animals there would be random genetic variation
in neck length. In an environment where there were trees and bushes, the longer-necked animals were better adapted and so
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competed well compared to their shorter-necked relatives. These animals lived longer, through more breeding seasons, and
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so had more offspring. So in the next generation there were more long-neck genes than short-neck genes in the population. If
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this continued over very many generations, then in time the average neck length would increase
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Types of Natural Selection
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There are three kinds of Natural Selection.
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1. Directional Selection
This occurs whenever the environment changes in a particular way. There is therefore selective pressure for species to change
in response to the environmental change.
The peppered moth. These light coloured moths are well camouflaged from bird predators against the pale bark of birch
trees, while rare mutant dark moths are easily picked off. During the industrial revolution in the 19th century, birch woods
near industrial centres became black with pollution. In this changed environment the black moths had a selective advantage
and became the most common colour, while the pale moths were easily predated and became rare.
Bacterial resistance to antibiotics. Antibiotics kill bacteria, but occasionally a chance mutant appears that is resistant to
that antibiotic. In an environment where the antibiotic is often present, this mutant has an enormous selective advantage
since all the normal (wild type) bacteria are killed leaving the mutant cell free to reproduce and colonise the whole
environment without any competition. Some farmers routinely feed antibiotics to their animals to prevent infection, but this is
a perfect environment for resistant bacteria to thrive. The best solution is to stop using the antibiotic so that the resistant
strain has no selective advantage, and may die out.
"Environment" includes biotic as well as abiotic, so organisms evolve in response to each other. e.g. if predators run faster
there is selective pressure for prey to run faster, or if one tree species grows taller, there is selective pressure for other to
grow tall. Most environments do change (e.g. due to migration of new species, or natural catastrophes, or climate change, or
to sea level change, or continental drift, etc.), so directional selection is common.
2. Stabilising (or Normalising) Selection.
This occurs when the environment doesn't change. Natural selection doesn't have to cause change, and if an environment doesn't
change there is no pressure for a well-adapted species to change. Fossils suggest that many species remain unchanged for long
periods of geological time. One of the most stable environments on Earth is the deep ocean.
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The Coelocanth. This fish species was known only from ancient fossils and was assumed to have been extinct for 70 million
years until a living specimen was found in a trawler net off South Africa in 1938. So this species has not changed in all that
time.
3. Disruptive (or Diverging) Selection.
This occurs where an environment changes to become two close but distinct environments.
Grass plants in Welsh Copper mines. Soil contaminated by copper from the mines in lethal to normal grass plants, but a
chance mutation allowed one plant to grow. This plant prospered and reproduced, but only on the contaminated soil. On
normal soil it grew more slowly than the normal plants and was easily out-competed. So now there are two varieties growing
close together.
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Describe and explain, using one example, the process of artificial selection.
Sample marking scheme
Humans select/ choose mate in cattle
The chosen mate has desirable features
E.g. a Hereford and Aberdeen Angus breeds have high quality and quantity meat/ any other example
And is bred/crossed
The offspring with desirable features are taken
And breeding is repeated over many generations
This increases frequency of desired alleles i.e. decreasing the frequency of undesired alleles
This leads to loss in hybrid vigour but increase in homozygosity
This is an example of humans exerting a directional selection pressure