GENETICS

Definitions/explanations
Gene: the basic unit of inheritance for a given characteristic, a length of the DNA molecule (with a
particular function) containing a specific nucleotide/base sequence located at a fixed point on the
chromosome, the gene locus.

Allele: one of a pair of alternative forms of a gene occurring at the same locus, on a pair of homologous
chromosomes, they have unique nucleotide sequences, responsible for contrasting characteristics, at a given
time only two alleles can occupy a single gene locus in a cell on a pair of homologous chromosomes.

Locus: a fixed point/position of an allele/gene on the chromosome or within the DNA molecule.

Homozygous: condition where the alleles for a particular gene at a given locus on a pair of homologous
chromosomes are identical, only one type of gamete produced, organism capable of pure breeding.

Heterozygous: condition where the alleles on a homologous pair of chromosomes are different and
therefore produce unlike gametes.

Homologous Chromosomes: chromosomes that are very similar, same length/size, shape, centromere in
same position, genes arranged in same linear manner, at same loci, determine same characteristics e.g. eye
color, blood group.

Genotype: genetic makeup/ constitution of an individual, with respect to alleles/genes under consideration,
for particular characteristics), the environment has no effect.

Phenotype: the detectable/observable/physical expression of genotype for characteristic, usually as a result

of the interaction of the genotype and the environment in which development occurs.

Dominant: the allele that expresses itself/ shows up in the phenotype even in the presence of alternative
allele; only one copy has to be present to produce detectable characteristic in the phenotype, on a pair of
homologous chromosomes.

Recessive: the allele which influences/shows up in the phenotype only in the presence of another identical
allele, 2 identical copies must be present to manifest itself in the phenotype, on a pair of homologous
chromosomes.

Codominance: three genotypes with distinguishable phenotypes, heterozygote/heterozygous

phenotypically distinguishable from both homozygotes. In the heterozygote both alleles, fully expressed/
make contribution to phenotype.

Incomplete Dominance: three genotypes each with distinguishable phenotypes, heterozygote intermediate
between both homozygotes and only one allele fully expressed in the phenotype.

Multiple Alleles: condition where a single characteristic may be controlled by more than two alleles/3 or
more/ of which only two may occupy the same gene locus of a pair of homologous chromosomes.

Lethal Alleles: when present either in the homozygous dominant or homozygous recessive causes the death
of the embryo/offspring, offspring numbers decreased and phenotypic ratio modified.

Autosomes: In humans there are 23 pairs of chromosomes; the first 22 homologous pairs are similar in both
sexes and are called autosomes.

Heterosomes: In humans the twenty third pair of chromosomes is different and called Heterosomes or sex
chromosomes. In females there are two X chromosomes which are similar; in males there is one X
chromosome and a Y chromosome which is slightly smaller. Unlike other features of an organism male or
female gender is determined by chromosomes rather than genes

Heterogametic Sex: male (XY), different gametes produced, half with X chromosomes and half containing
Y chromosomes.

Homogametic Sex: female (XX), all gametes produced contain X chromosome.

1
Epistasis: one gene at a locus the epistatic gene, in the dominant or homozygous recessive condition, masks
or suppresses the expression of another gene, the hypostatic gene, at another locus on separate homologous
pairs of chromosomes.

Euploidy/Polyploidy: gametes or somatic cells containing multiples of the haploid number of

chromosomes.
Non-disjunction: failure of homologous chromosomes to separate in anaphase 1 of meiosis (chromatids
in anaphase II) resulting in gametes containing an additional chromosome n + 1 or missing one
chromosome n – 1.
Aneuploidy: half of the gametes with n +1 chromosomes will produce daughter cells with an extra
chromosome 2n + 1 the other half gametes with n - 1 chromosomes produce daughter cells with a
chromosome missing 2n – 1.

Monohybrid Inheritance: refers to the inheritance of a single characteristic/trait only, gene located on a
pair of homologous chromosomes.

Dihybrid Inheritance: refers to the inheritance of two characteristics/traits simultaneously genes for each
trait located on different homologous pairs (not linked).

Linked Genes: genes for particular traits located on the same homologous pair of chromosomes; all genes
form linkage group; chromosomes 1-22 autosomal linkage.

Sex Linkage: genes for particular traits located on the sex chromosomes (usually X), 23 rd pair.

Mendel’s First Law; Law of Segregation: the characteristics of an organism are determined by internal
factors, which occur in pairs, only one of a pair of such factors can be represented in a single gamete.

Mendel’s Second Law; Law of Independent Assortment: any one of a pair of characteristics may
combine with either of another pair.

Test Cross: used to distinguish between dominant genotypes having identical phenotypes, carried out by
crossing unknown genotype with the known, which is the homozygous recessive. F 1 ratio determines the
unknown genotype.

Cell Cycle: sequence of events taking place between one division and the next, consists of three phases,
interphase G1, S and G2; mitosis prophase, metaphase, anaphase and telophase; cytokinesis physical
division of cytoplasm and cell into two daughter cells.

Mutation: a change in the amount, arrangement or structure of the DNA of an organism.

Gene Mutation: a change in the structure of the DNA at a single locus.

Chromosomal Mutation: a change in the amount/number or arrangement/structure of the chromosomes.

Chiasma: point(s) where non-sister chromatids of a homologous pair (bivalent) become joined in intimate
contact with each other during synapsis in prophase 1 of meiosis.

Crossing Over: the process by which non-sister chromatids of paternal and maternal homologous pair
(bivalents) exchange equivalent pieces of DNA/lengths of chromatid/genetic material and the allele(s) they
contained at the chiasma during synapsis in prophase 1 of meiosis.

Probability: the number of ways event A can occur divided by the total number of possible outcomes
expressed as percentage or fraction.eg 25 %, ¼.

Ratio: magnitude of quantities relative to each other separated by a colon. E.g. 3:1; 1:2:1; 9:3:3:1

Intron: part of DNA [nucleotide sequence] that does not code for proteins or RNA and spliced out from
mRNA prior to translation.

Exon: part of DNA [nucleotide sequence] that codes for proteins and RNA and present in mRNA for
translation.

2
Codon: is a nucleotide sequence or base sequence in the mRNA molecule obtained by transcription of the
DNA transcribing/coding strand that specifies the incorporation or addition of one amino acid into the
specific position in the primary structure of the polypeptide chain. Each codon is three bases long, and
codes for one amino acid.

Anticodon: is the triplet of bases on the tRNA molecule which is complementary to and recognizes the
codon sequence in the mRNA strand during the process of translation. The anticodon is found in an
intermediate position along the clover- shaped tRNA molecule

Chromosomal theory of inheritance: alleles for a particular gene are carried by a pair of
homologous chromosomes with one of the allele carried by each chromosome at the same gene
loci.

Transcription: is the process in which the base/nucleotide sequences in a specific region of the
transcribing/coding strand of the DNA, referred to as a cistron, acting as a template is converted or
transcribed into the complementary base sequence in the formation of an mRNA strand, where the
triplet of bases coding for one amino acid in the DNA is now the codon on the mRNA molecule.

Translation: process by which the codes for the amino acids for a protein in the DNA contained in the
codons in the mRNA is ‘read’ and ‘translated’ by the ribosome into the linear sequence of the primary
structure of the polypeptide chain.

EUKARYOTIC CHROMOSOME STRUCTURE

Chromosomes carry the hereditary material, the DNA. All the chromosomes of eukaryotic cells are
made up of DNA together with proteins called histone proteins, and small amounts of chromosomal
RNA. These proteins that make up the chromosomes are basic proteins [positively charged amino
acids], and DNA + histones makes up chromatin. Those histones interact, or are bonded to the

DNA due to opposite charges. DNA has negative charges, due to the negatively charged
phosphate roups, the basic proteins are positively charged. That DNA protein complex is called
chromatin.
There are two types of chromatin, euchromatin and heterochromatin
Euchromatin is less tightly packed, and more scattered. Heterochromatin is more tightly packed,
and stains very darkly. Euchromatin is believed to be more genetically active in interphase.

The chromatin of eukaryotes is made up repeated units called nucleosomes.

DNA wrapped around 8 histones makes a nucleosome, appear like beads on string.
These nucleosomes, together with their linking strands are packed closely together, undergoing
spinalization and condensation, they become coiled and supercoiled.
That now, produces a solenoid fibre, 30nm, and that solenoid form must then be packed (undergo
coiling).
That addition coiling will produce the chromatin. The chromatin now undergoes coiling, which
produces the chromosome.
Coiling condenses DNA into convenient packages to distribute into 2 cells
Because of the large amount of DNA within the cell, there is a packaging problem.
Human cells contain about 2.2 m of DNA in the 46 chromosomes.
Each chromosome contains about 4.8 cm DNA and about 6 micrometres long on average
The chromosome must undergo a packaging ratio of about 8000 to 1

When chromosomes are stained by various methods, Feulgen etc., some regions of the
chromosome can be seen to be darkly or lightly stained under the light microscope.
When examined by electron microscopy The intensely staining one is the heterochromatin,
where the fibres are densely packed and highly coiled. The euchromatin [lighter] is less tightly
packed, loosely coiled. The density of the chromatin shows the difference

DNA REPLICATION -SEMI-CONSERVATIVE

Because of the structure proposed by Watson and Crick there is an immediate process
for replication, the two strands unwind and each strand can now act as a template
for complementary base pairing, the end result which would be two identical copies
made.
If two strands are made, one is the original (conserved), and the other is
new. This is semi-conservative replication.

3
DNA consists of two antiparallel chains both running in opposite directions, the
5' prime and 3' prime. The numbers refer to the carbon atoms in the sugar
phosphate backbones in the polynucleotide strand.
Replication always occurs in the 5'prime to 3' prime direction
1) The first step is the separation of the two strands, unwinding the DNA. In order
for this to happen, the enzyme DNA helicase will pass along the DNA,
facilitating the breakage of the hydrogen bonds between the complementary base
pairs. Both strands will separate. DNA replication always occurs in the 5'-3'
direction. [enzyme specific, will only recognize particular shape]
The strand read in 3' '-5 direction synthesized in 5-3' ', leading strand continuous replication
Strand read in 5-3' ' will be synthesized in 3-5
' ' direction, lagging strand discontinuous replication
2) The enzyme DNA polymerase binds to the single strand and moves along the
strand. Each time it meets the next base on the DNA it will add to it a free nucleotide, with complementary
pairing occurring A-T, C-G.
These free nucleotides have two extra phosphates, activates the nucleotides, when nucleotide added to chain the 2
extra phosphate groups broken off releasing energy enabling remaining phosphate group to form phosphodiester/
sugar-phosphate with sugar molecule of neighboring nucleotide. Once they come together, the hydrogen bonds
form between the bases, but the complete stand is formed by joining the sugar and phosphate groups,
the enzyme DNA polymerase catalyses the formation of the phosphodiester bonds between adjacent nucleotides

3) The enzyme continues moving along the strand, binding each successive complementary
nucleotide and extending the strand.
Because the enzyme works in the 5'-3' direction, the new strand that is being formed will be copied
continuously without any gaps or stops in the newly synthesised DNA strand.
This is called continuous replication. The polymerase enzyme is moving in the same direction
as the helicase enzyme. Because the polynucleotide chain is elongated by the linking
of the 5 end phosphate group of the next nucleotide to the 3 end hydroxyl sugar at the end of
the strand, the new strand of DNA will always grow in the 5'-3' direction.

4) In the copying of the other, bottom strand running from 3'-5', the enzyme has to move away from
the helicase enzyme to achieve the 5'-3' direction. In order to add the nucleotides
and expand the strand, it must move from 5'-3'. When it joins the pieces, it leaves
spaces or gaps in the newly formed strand. The enzyme cannot join the gaps
between the 3 end of one newly synthesised piece and the 5 end part of the next
piece. Between the 5 and 3 ends are little gaps. This strand is not formed
continuously in one go, and this is called discontinuous replication.

5)These gaps must be joined with the aid of another enzyme, DNA ligase. DNA ligase
passes and seals up all of the gaps. Specific base pairing has therefore ensured
two identical strands of the original strand. The amount of genetic material is
doubled.

PROTEIN SYNTHESIS

Most genes exert their effects on the phenotype through the proteins whose function
they specify. Although the DNA controls the activities of the cell, the only molecules
that are capable of being synthesized directly from DNA are proteins and RNA. These
may have structural roles such as keratin, collagen, or may have functional roles as hormones like
insulin antibodies, transporters etc. most important here are the enzymes, because they are
responsible for controlling the cell metabolism. It is the different types of enzymes
in the cell which determines what kind of cell it becomes, and in this way, DNA
controls the activities of the cell through the enzymes and proteins that are produced.

The central dogma or the underlining principle of genetics is that genetic information is
transferred:
1) From DNA to DNA. This must occur during replication in transfer from one
generation to the other.
2) From DNA to RNA to proteins during its phenotypic expression of an organism.
The transfer of genetic information from DNA to RNA to proteins involves two main
processes: Transcription and Translation. The amino acid must be
synthesized, then transcription, amino acid activation and translation

4
The strand in DNA that is used to make the copy of RNA is the transcribing or
coding strand. The other is the non-transcribing or non-coding strand

Transcription: is the mechanism in which the base sequences in a specific region of

the DNA, referred to as a cistron, is converted or transcribed into the complementary
base sequence in the formation of an mRNA strand. The information for the primary
structure of the polypeptide is stored in the DNA as the triplet code. In eukaryotic
organisms, the chromosomal genes consisting of DNA remain in the nucleus of the cell.
However, proteins are manufactured in the cytoplasm of the cell. Therefore, DNA
cannot serve directly as a template for protein synthesis. Instead, one strand of the

DNA called the the transcribing strand is used as a template for the
synthesis of a complementary strand of RNA, the messenger mRNA, in the process of
transcription. The mRNA can now leave the nucleus and enter into the cytoplasm where
it can act as the template for protein synthesis. The triplets now on the mRNA is referred
to as codons.
For two different genes, or cistrons, the transcribing strand may not be the same strand. However, for a
particular cistron, only one strand is transcribed.

Codons and Anticodons

A codon is a nucleotide sequence or base sequence in the mRNA molecule obtained by transcription
of the DNA coding strand that specifies the incorporation or addition of one
amino acid into the specific position in the primary structure in the polypeptide chain.
Each codon is three bases long, and codes for one amino acid.
An anticodon is the triplet of bases on the tRNA molecule which is complementary to
and recognizes the codon sequence in the mRNA during the process of translation.
The anticodon is found in the intermediate position along the clover shaped tRNA molecule

Transcription Phase of Protein Synthesis

Before transcription can begin in eukaryotes, proteins called transcription factors must bind to
region of DNA [few bases long] called promoter which identifies start of gene; which strand copied and
in which direction i.e. switches on gene
In the presence of the enzyme RNA polymerase, a specific region of the DNA double
helix called the cistron, unwinds by breakage of the relatively weak hydrogen bonds
between the two strands, exposing the single strands of DNA. The helicase enzyme is
involved, but the RNA polymerase is the most important
The bases along the strands are exposed. The process is nearly similar to replication,
one strand, the sense strand will act as the template for the formation of the
complementary mRNA strand. Free nucleotides have two extra phosphates, activates
the nucleotides, when nucleotide added to chain the 2 extra phosphate groups broken off releasing energy
enabling remaining phosphate group to form phosphodiester/sugar-phosphate with sugar molecule of
neighboring nucleotide. Free nucleotides abundant in the nucleus arrange
themselves opposite to the sense strand so that complementary base pairing occurs.
The base pairing here is different, G pairs with C and A pairs with U. Uracil is present in
RNA in the position where T would be in the DNA.
It is the specificity of this base pairing that ensures that the mRNA produced carries the accurate codes
which can then be translated into the appropriate polypeptides.
Each sequence of three bases on the mRNA is referred to as the codon, coding for one amino acid.
RNA synthesis like DNA replication also occurs in a 5'-3' direction.
The process begins by the RNA polymerase binding to a special initiation site. [ different from stop
codons]

Initiation occurs by an enzyme binding to a site with the specific base sequence and
will end at specific termination sequences [ different from stop codons].
Transcription must be initiated at a certain point and terminated at a certain point.
Once the mRNA molecule is formed, the polymerase enzyme leaves
DNA the double helix closes back up, and the mRNA
being too large to pass through the nuclear membrane leaves via the nuclear pores and
enters the cytoplasm of the cell. The information stored in the DNA in the form of the
triplet codes are therefore transferred to the protein synthesizing machinery in the
cytoplasm, the ribosomes, via the codes on the mRNA molecule in form of codons

The ribosomes are the site of protein synthesis; they have complex macromolecular
structures. They can be thought of as workbenches complete with tools and everything
that is needed to manufacture the polypeptides.
5
They can synthesize any polypeptide, any amino acid sequence specified by a particular mRNA
molecule. In addition to mRNA, one additional type of RNA is required for protein
synthesis, the tRNA. The tRNA. molecules carry the amino acids to the site of protein synthesis on the
ribosomes. They must therefore be attached to the tRNA.

This step is called amino acid activation and attachment to the tRNA.

INCLUDED UNDER TRANSLATION

STAGE

Activation is the process by which the amino acid combines with the tRNA. This is a
two step process:
1) The activation of the amino acid using energy from ATP and enzymes.
2) The addition of the tRNA molecule forming an amino-acyl tRNA molecule. An
activating enzyme is required to do this process, amino-acyl-tRNA synthetase. The result is an amino-
acyl tRNA complex/molecule. Every amino acid must have its own tRNA molecule and its own enzymes
If there are twenty amino acids there must be twenty tRNA molecules and twenty form of enzymes. Each
type of tRNA molecule has to bind with a specific amino acid. How it recognizes its
amino acid is based on the anticodon. For each tRNA molecule there will be a specific
anticodon which specifies that amino acid. What all of them have in common is the free
end where attachment is taking place: ACC. The tRNA carrying its specific amino acid
tRNA complex will now move towards the ribosomes.

Translation Phase of Protein Synthesis

Include amino acid activation and attachment to tRNA
Each ribosome has two binding sites: the A (amino-acyl site) and P (Peptidyl site). The A
site is where the amino acid is deposited at ribosome and, the P site is where it would be added to the
growing polypeptide chain. Each ribosome is made up of a small and large subunit. The
ribosome could only facilitate two codons at a time. The first two enter into the
ribosome; then the ribosome will move down one codon at a time during translation.

The first codon, AUG will bind to the amino-acyl tRNA molecule having the anticodon,
which is carrying the first amino acid, methionine. The translation part of protein
synthesis always begins with methionine, regardless if it is not part of the final protein.
There is a special methionine which starts the process: tRNA methionine [tRNA met]. At the end of
protein synthesis, if methionine is not part of the protein, it will be removed as the protein
passes through Golgi apparatus for processing and modification.

The second one enters, the ribosome accommodates two at a time. The ribosome will
hold in position the mRNA, the tRNA complexes, the associated enzymes until a peptide
bond forms between the adjacent amino acids, making a dipeptide. The enzyme which
catalyses the formation of these bonds is Peptidyl transferase

Elongation
Once a peptide bond is formed, the next tRNA complex bringing in the next amino acid
enters . The ribosome moves down one codon along the mRNA to hold the next codon-
anticodon complex together until another amino acid is added to the chain.
Once each amino acid is linked via a peptide bond, the tRNA which carried it is
released back into the cytoplasm, where it is free to be re-converted into another tRNA
complex.

With this sequence of the ribosome ‘’ reading” and ‘’translating”, the mRNA code/codons
continues along the mRNA, in the meantime the primary structure of the polypeptide
chain is being formed. The protein will have a specific length. Eventually the end point is
reached. A chain termination codon is needed, there are three: UAA, UAG UGA. Once
the ribosome reaches one of these codons, the process will stop. The polypeptide with its
primary structure made up of a linear sequence of amino acids determined by the triplet codes in the
base/nucleotide sequence of DNA leaves the ribosomes and translation is completed.

In order for the cell to be more efficient, a number of ribosomes pass along the mRNA simultaneously
and produce a number of identical polypeptides. They are referred to as polysomes.
This process can take a few minutes or maybe longer, so the mRNA does not exist in
the cell for too long, it must be broken down after process completed.

The main steps in translation may be summarized:

1) Binding of mRNA to the ribosome

6
2) Amino acid activation and attachment of the tRNA
3) Chain initiation
4) Chain elongation
5) Chain termination
6) Fate of the mRNA

The polypeptide so formed must be assembled into a protein, involving assuming the
secondary or tertiary shape etc., depending on the function of the protein in the cell. Once
the protein is made it has methionine in the first position. If the final protein does not have
methionine as part of is sequence, it must be removed. When the protein enters the
Golgi apparatus, the methionine will be cleaved out. Translation occurs with
considerable speed. In haemoglobin, one polypeptide chain is 150 residues which
takes about 80 seconds to synthesise.

Sickle cell anaemia (see handout ) DO AFTER MUTATION

Sickle cell anaemia is a result of a substitution mutation in the sixth triplet in the gene coding for one of
the beta chain. The DNA molecule which codes for the beta amino acid in haemoglobin has a mutation
whereby the base adenine replaces thymine.
The codon in the mRNA produced has the triplet code GUG for the amino acid valine rather than GAG
for the amino acid glutamic acid. Glutamic acid is polar, valine is non-polar and hydrophobic.
The beta amino acid chain produced has one glutamic acid molecule replaced by a valine molecule in the
sixth position of the primary structure of the polypeptide chain.
When the level of oxygen in the blood is low, the presence of valine make the deoxygenated haemoglobin
(HbS) less soluble, therefore when this haemoglobin loses oxygen the molecules comes out of solution
and crystallises into rigid rod-like fibres; the beta chains form abnormal fibres, this haemoglobin called
haemoglobin-S (HbS).
This changes the shape of the red blood cells normally biconcave discs to become sickle-shaped or
crescent shaped. The sickling damages the cell membrane and shortens the life of these cells. They are
removed from the circulation by the spleen.
These sickle cells can get stuck in capillaries making it difficult for blood to flow. If this happens people
with this condition have sickle cell crisis in which blood flow to major organs is reduced and there can be
much pain. People experiencing a sickle cell crises need to be taken to hospital to receive pain relief and
blood transfusions. Some people live with the disease for many years without having crises, but without
good medical facilities many children with sickle cell disease die at a young age.
The anaemia is caused by the loss of red blood cells at a faster rate than they are produced in bone
marrow. Normal red blood cells live between 90 and 120 days before they are destroyed in the spleen or
liver; sickle-shaped red blood cell only live for between 10 and 20 days.
Symptoms of anaemia are feeling tired and lethargic and an inability to do strenuous exercise.
Sickle cell anaemia and malaria.
Sickle cell anaemia is the disorder that happens to people homozygous for the substitution mutation. It is
surprisingly common in some areas of the world because it gives protection against malaria. Individuals
homozygous (both recessive allele HSHS) for the disease will suffer from sickle cell anaemia, those
normal (HAHA) may be affected and die from malaria. Those heterozygous ( HAHS) are carriers and have
the normal allele and the sickle cell allele producing both forms of the polypeptide chain. Parasite spends
part of life cycle in red blood cells, in a carrier the presence of the parasite causes the red blood cells to
rupture prematurely, so cannot reproduce, also affects ability of parasite to digest haemoglobin. In areas
where malaria present chances of survival increases in heterozygous individuals, this mild form called
sickle cell trait.

7
 MUTATION
This is any change in the amount, arrangement or the structure of the DNA, if the mutation occurs in the
gametes, then it will be inherited from parent to offspring. If it occurs on the body cells (somatic cells)
for example cancer, it is not inherited.

There are two types of mutation:-

1. Chromosomal mutation
2. Gene mutation

Chromosomal Mutation- This occurs when there is a change in the amount or structure/arrangement
of the DNA. It may affect certain genes and may therefore have very serious effects e.g. like Down’s Syndrome.

Gene Mutation - This is any change in the structure of the DNA at a single gene locus on the
chromosome, this may have profound effects on the organism.
Chromosome contains over one hundred genes so when there is a chromosome mutation, it affects many
genes and hence there may be a profound effect on the phenotype.

Change in the number of chromosomes

Aneuploidy - is the condition where half of the gametes with n +1 chromosomes will produce daughter
cells with an extra chromosome 2n + 1 the other half gametes with n - 1 chromosomes produce daughter
cells with a chromosome missing 2n – 1. This is failure of the one of the homologous pair to separate
during anaphase I in meiosis called non-disjunction. This leads to both sets of chromosomes passing
to the same pole of the cell and leads to the formation of gamete cells containing either too many or too
few (n+1), (n-1), in humans 24 or 22 chromosomes. Down’s Syndrome is a condition in which a child
is born with an extra copy of their 21st chromosome — hence its other name, trisomy 21. This causes
physical and mental developmental delays and disabilities.
(May occur in sex chromosomes resulting in e.g. Turner's Syndrome - the individual is missing an X - XO;
or Klinefelter’s syndrome – individual has extra X – XXY)
Euploidy / Polyploidy - is the condition where gametes and somatic cells contain multiples of the
haploid number of chromosomes called polyploids. They consist of 3n (triploid), 4n (tetraploid) or 5n
(pentaploid) indicating the extent of polyploidy. Polyploidy is very common in plants since it is
associated with advantageous features such as increased size, hardiness and resistance to disease,
however it is lethal in animals.
Changes in chromosome structure
During meiosis, in prophase 1 the homologous pairs come together in a process called
synapsis and chiasmata form where non- sister chromatids come into intimate contact and
there is equivalent exchange of genetic material, crossing over and transfer of alleles. It is assumed that
when they come into contact, and move apart everything happens normally. However, during
the process, errors can take place, producing chromosomal mutations. There are four
types: deletion, inversion, translocation and duplication

Deletion: in this process, piece is broken off from the chromosome, if piece of the chromosome is lost,
then whatever genetic information is stored is now lost. This can have serious
consequences sometimes, especially in the development of the organism, or if the
gene is involved in a metabolic function. Deletion can be fatal, since part of the DNA
is lost.

1
 Inversion: A portion of the chromosome breaks off and re-joins but inverted so that the gene sequence is
reversed. Nothing is lost so genotype is still the same. The genotype does not change, but since the
gene sequence is reversed, it may have effects on the phenotype.

Translocation: A portion of the chromosome breaks off but does not re-join at the same position on
the same chromosome may re-join other end of same chromosome of on another non-homologous
chromosome. This is equivalent to crossing over with a non-homologous chromosome.

Duplication: This occurs when piece of the chromosome duplicates forming another gene sequence so that an
additional set of genes exist for the region of duplication, which may be incorporated within the chromosome.

Gene Mutations - A change in structure of the DNA at a single locus is called a gene mutation and
they can have profound effects on the organism, such as frame shift.

 Addition .
 Deletion

 Inversion
 Substitution
 Duplication

The DNA contains the code for the primary structure of proteins, the specific linear amino acids sequence. In
order to produce the protein, a mRNA strand must be made, containing the codons coding for the particular amino acids
that makes up the protein. With gene mutations, this can change the codon sequence for a particular amino acid and therefore the
incorrect amino incorporated into polypeptide chain that is produced, may have serious consequences.

Deletion: piece of the sequence is lost. It can be one or two or many bases in the sequences. Every three represents one triplet.
If one is lost, the new triplet, and the triplets beyond move into the vacant place. This is a frame shift.
All these triplets would code for different amino acids affecting the protein produced.
This can be counteracted by: Some amino acids can be coded for by as many as six different triplets.
So if something happens to one sequence, another can be used to code for the same amino acid. This may not be
a problem for small sequences, but problems can arise for large numbers of mutated sequences.

Addition/Insertion: an additional sequence becomes inserted into the nucleotide chain. This again can
causes some frame shift.

Duplication: Piece of the nucleotide chain is doubled, have an additional nucleotide sequence.

Inversion: part of the chain becomes detached, however, it rejoins at the same position by rotating 180°.
The nucleotide sequence becomes reversed. Some of these may have more profound effects than others.

Substitution: in substitution one of the nucleotides with a specific organic base is substituted for another nucleotide
having a different organic base. If it is a structural protein, may not have serious effects, however, if it is a globular
protein, like an enzyme and change affects the active site, there may be serious consequences.
Typical example of substitution having a serious effect is the sickle cell condition of red blood cells leading to
sickle cell anaemia.
It is very rare that a GOOD mutation comes up, most of them cause damage to the body. However, mutations
do allow the species to evolve, so they need to occur periodically. If the gene mutations occur during
gamete formation, it will be transmitted to all cells of the offspring, and can be inherited. Some somatic
cells can undergo mutations, resulting in uncontrolled cell division, leading to cancers, this is not
inherited.
Possible carcinogens (cancer causing agents) -- uv ligh , α and β particles from radiation, mustard gas,
asbestos, gamma rays, certain chemicals in tobacco smoke can cause cancers.

2
GENETIC ENGINEERING

mRNA method

plus free DNA nucleotides

plus free DNA nucleotides

Advantages or using this insulin.
-It is chemically identical to insulin produced by human body and therefore little chance of an immune response to it/ allergic reaction.
-Because of exact fit in human insulin receptors in cell surface membrane, brings about much more rapid response than insulin from pigs/cows.
-Like natural human insulin, the duration of response is much shorter and much more effective than insulin from pigs or cows.
-It overcomes the problem related to development of tolerance to insulin from pigs or cows.
-Avoids the ethical issues which arise from animal insulin such as religious objections to pigs/products; vegetarians for animal products.
 STEPS FOR GENETIC DIAGRAM/CROSS

Let --- [symbol capital for dominant] represents the allele for -----[characteristic]
Let ---- [symbol common for recessive] represents the allele for -------
[For monohybrid crosses 2 statements ]
[For dihybrid crosses usually 4 statements]

Parents Phenotype plant producing ------ seeds X plant producing ----- seeds
Genotype [appropriate symbols] X [appropriate symbols]
Meiosis
Gametes [appropriate symbols] CIRCLED

Random fertilisation and

F1 /first generation genotypes for offspring

use of Punnett square

Male/♂

Female/♀

Phenotypes and phenotypic ratio of offspring

Genotypes and genotypic ratio where indicated.

If there is an F1 /first generation INTERCROSS

Parents Phenotype plant producing ------ seeds X plant producing ----- seeds
Genotype [appropriate symbols] X [appropriate symbols]
Meiosis
Gametes [appropriate symbols] CIRCLED

Random fertilisation and

F2 /second generation genotypes for offspring

use of Punnett square

Male/♂

Female/♀

Phenotypes and phenotypic ratio of offspring

Genotypes and genotypic ratio where indicated