3.0 Genetics

3.
0 GENETICS
AREAS OF EXPLORATION
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3.1 Genes
3.2 Chromosomes
3.3 Meiosis
3.4 Inheritance
3.5 Genetic modification and biotechnology
Understandings:
AREAS OF EXPLORATION
A gene is a heritable factor that consists of a length of DNA and influences a specific characteristic
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A gene occupies a specific position on a chromosome
The various specific forms of a gene are alleles
Alleles differ from each other by one or only a few bases
New alleles are formed by mutation
The genome is the whole of the genetic information of an organism
The entire base sequence of human genes was sequenced in the Human Genome Project
Applications:
The causes of sickle cell anaemia, including a base substitution mutation, a change to the base sequence of
mRNA trancribed from it and a change to the sequence of a polypeptide in haemoglobin
Comparison of the number of genes in humans with other species
Skills:
Use of a database to determine differences in the base sequence of a gene in two species
3.1 GENES
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3.1.1 Chromosomes, genes and alleles
3.1.2 Mutations
3.1.3 Human genome project
3.1.4 Sickle cell anaemia
3.1.5 Using Databases to determine differences in
the base sequence of genes
3.1 GENES
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https://www.transum.org/software/RandomStudents/Default.asp
3.1 GENES
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3.1.2 Mutations
3.1 GENES
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3.1.2 Mutations
3.1 GENES
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3.1.2 Mutations
CHROMOSOMES
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3.1.2 Mutations
CHROMOSOMES
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Variations or versions of a gene are called alleles. An allele
is one specific form of a gene, differing from other alleles by
one or a few bases.
GENES
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3.1.2 Mutations
CHROMOSOMES
Chromosomes – long DNA molecules, which contain many

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genes/ Threadlike structure of DNA and protein containing genetic

information.
- Different species have different numbers of chromosomes. For
example, humans are diploid (2n) and have 46 chromosomes in
their normal body cells. These 46 chromosomes are organized into
23 pairs: 22 pairs of autosomes and 1 pair of sex chromosomes.
NUCLEOSOMES

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information.
NUCLEOSOMES
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A nucleosome consists of a length of DNA of about 150 base
pairs, wrapped around a core of eight histones (which are
actually four pairs of four different histones) and a special
histone named H1.
- DNA is acidic and negatively charged, so the bonding with
the histones neutralises the DNA.
CHROMOSOMES
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A very long chain of DNA can form a chromosome. In
these chromosomes are areas called genes that code for
specific proteins. All the different chromosomes of an
organism make up that organism's genome. In other
words: DNA makes up genes, genes make up
chromosomes, and chromosomes make up a genome.
GENES
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3.1.2 Mutations
GENES
DNA is packaged and organisedDONEC

into QUIS
discrete
NUNC structures called
chromosomes.
- A gene is a heritable factor that consists of a length of DNA and influences
a specific characteristic/A gene is a sequence of DNA that encodes for a
specific trait (traits may also be influenced by multiple genes)/Gene, unit
of hereditary information that occupies a fixed position (locus) on a chromosome .
- Genes achieve their effects by directing the synthesis of .The position of
proteins
a gene on a particular chromosome is called the locus (plural = loci)

ALLELES
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one or a few bases.
ALLELES
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one or a few bases.
ALLELES
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one or a few bases.
ALLELES
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one or a few bases.
ALLELES
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one or a few bases/ Alleleis is a specific form of a gene.
NUCLEOTIDES
The basic structures of DNA and RNA are very similar as they are both made of monomers called nucleotides. DNA and RNA are composed of three parts, namely a pentose sugar (meaning that it has five carbon atoms), a phosphate
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group and a nitrogenous base. Figure 1 shows a simplified structure of a DNA nucleotide, which makes up the basic unit of DNA and RNA; although in RNA, the pentose sugar is a ribose instead of a deoxyribose.
DNA and RNA also differ in their bases. DNA has four nitrogenous bases: guanine (G), adenine (A), thymine (T) and cytosine (C). RNA has the same bases except for thymine, which is replaced by uracil (U). Bases can be
classified based on the number of rings present in their structure. Purines are bases that have two rings in their structure, while pyrimidines contain only one ring. Thymine, cytosine and uracil are examples of pyrimidines, while
adenine and guanine are classified as purines.
NUCLEOTIDES
- The basic structures of DNA and RNA are very

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NUNC as they are both made of monomers
called nucleotides. DNA and RNA are composed of three parts, namely a pentose sugar
(meaning that it has five carbon atoms), a phosphate group and a nitrogenous base.
- DNA and RNA also differ in their bases. DNA has four nitrogenous bases: guanine (G),
adenine (A), thymine (T) and cytosine (C). RNA has the same bases except for thymine,
which is replaced by uracil (U).
- Bases can be classified based on the number of rings present in their structure. Purines
are bases that have two rings in their structure, while pyrimidines contain only one ring.
Thymine, cytosine and uracil are examples of pyrimidines, while adenine and guanine are
classified as purines.
STRANDS
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- The nucleotide units link together through a phosphodiester
bond (a covalent bond) to form a single strand, a
polynucleotide .
- The phosphodiester bond is always formed between the

phosphate group attached to the 5'-C of one sugar and the
hydroxyl (OH) group attached to the 3'-C of another sugar.

STRANDS
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-DNA is made up of two strands

held together by hydrogen bonds to
form a double helix, while RNA is
only a single-stranded molecule.
STRANDS
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-DNA is made up of two strands

held together by hydrogen bonds to
form a double helix, while RNA is
only a single-stranded molecule.
FORMATIVE ASSESSMENT
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Using suitable diagrams, explain the meaning of:
(i) Chromosome [3]
(ii) Genes [3]
(iii) Alleles [3]
(iv) Nucleosome [3]
(v) Nucleotides [3]

MUTATIONS DONEC QUIS NUNC
Gene, unit of hereditary information that occupies a fixed
position (locus) on a .
chromosome
- Genes achive their effects by directing the synthesis of .

proteins
Mutation
- This is a sudden change, spontaneous and permanent change in the
DNA structure resulting to a gene or chromosomal type that differs
from the normal type.
- Mutations are random and spontaneous.
- The changes in the DNA code can be passed on from parents to
their offspring.
- In some instances, mutations can be beneficial while in most cases
they produce undesirable effects on the phenotype.
Causes of mutation
(i) Spontaneous errors during DNA replication.
(ii) Physical mutagens such as ionising radiations such as
gamma rays, X rays and UV rays.
(iii) Chemical mutagens; these include various chemicals
which can induce mutations and include mustard gas,
ethyl methane sultanate (EMS) and colchicine.
Types of mutation
(a) Chromosomal mutations.

(b) Gene mutations.
Gene Mutations
- This involves changes in the structure of the genes.
- Gene mutations results from a change in the chemical

structure of the genes which often alters the sequence of
bases along the DNA.
- Gene mutation can alter the amino acid sequence leading

to formation of nonfunctional proteins.
Types of Gene Mutations
(i) Insertion
(ii) Deletion
(iii) Substitution
(iv) Inversion.
Insertion
- This refers to the addition of an extra base
or bases onto an existing DNA strand.
- This can alter the normal amino acid

sequence and lead to misreading of the
sequence by ribosome leading to formation
of abnormal protein.
Insertion
- This refers to the addition of an extra base or bases
onto an existing DNA strand.
- This can alter the normal amino acid sequence and

lead to misreading of the sequence by ribosome
leading to formation of abnormal protein.
Deletion
- This is the removal of agent portion
leading to wrong protein synthesis. Such
genes can be lost altogether leading to
genetic loss.
Deletion
- This is the removal of a gene portion
leading to wrong protein synthesis. Such
genes can be lost altogether leading to
genetic loss.
Substitution
- This is a mutation that changes one
base in the DNA for another.
- This can lead to a change in the

proteins produced.
Substitution
- This is a mutation that changes one base in the
DNA for another.
- This can lead to a change in the proteins produced.

Inversion
- This occurs if a portion of the DNA
strand rotates through 180 degrees.
- The base sequence of the gene is

altered leading to wrong protein
synthesis.
THINK…SHARE
Intended message Delivered message
- This occurs if a portion of the DNA
strand HE IS COLD
rotates through 180 HE IS OLD
degrees.
SHOW ME YOUR SKIT SHOW ME YOUR SKIRT
- The base sequence of the gene is
IS THIS
altered leadingWIFI? to IS THIS WIFE?
wrong protein
synthesis.
YOU ARE THE BEST YOU ARE THE BEAST
(i) Albinism
(ii) Sickle cell anaemia

Genome Project
(iii) Haemophilia
(iv) Colour blindness

Human genome
project
The completion of the Human Genome Project in 2003 lead to many outcomes:
Mapping – The number, location, size and sequence of human genes is now
established
Screening – This has allowed for the production of specific gene probes to
detect sufferers and carriers of genetic diseases
Medicine – The discovery of new proteins have lead to improved treatments
(pharmacogenetics and rational drug design)
Ancestry – Comparisons with other genomes have provided insight into the
origins, evolution and migratory patterns of man.
Human Genome Project
- The genome is the totality of genetic information of

a cell, organism or organelle/A genome is all the
genetic information of an organism.
-
Human genome project
The completion of the Human Genome Project in 2003 lead to many outcomes:
Mapping – The number, location, size and sequence of human genes is now
established
Screening – This has allowed for the production of specific gene probes to
detect sufferers and carriers of genetic diseases
Medicine – The discovery of new proteins have lead to improved treatments
(pharmacogenetics and rational drug design)
Ancestry – Comparisons with other genomes have provided insight into the
origins, evolution and migratory patterns of man.
Genome Project
Organism Estimated number of genes Number of Chromosomes
- The genome is the

Mus musculus (mouse)
totality of genetic
25 000
information of 40
a cell, organism or organelle/A genome is all the

Arabidopsis thaliana (plant) 23 000–25 000 10
Homo sapiens (human) 22 000–25 000 46
genetic information
Caenorhabditis elegans (roundworm)
of an organism.
19 000 12
Caenorhabditis elegans (roundworm) 19 000
Drosophila melanogaster (fruit fly) 13 000–14 000 8
-
Saccharomyces cerevisiae (yeast) 6000 32
Escherichia coli (bacterium) 1700–3000 1

Human Genome Project
Organism Genome size in base Notes
pairs
- The genome is the totality

T2 phage (a virus which infects bacteria)
of genetic
3569 information of
first RNA genome sequenced
a cell, organism or organelle/A genome is

E. coli (a bacterium) 4.6 × 10 all the 6
genetic information of an
Drosophila melanogaster (fruit fly) organism.
130 × 10 6
Homo sapiens (human) 3200 × 106

-
Paris japonica (Japanese native pale-petal) 150 000 × 10 6 largest known plant genome
Protopterus aethiopicus (marbled lungfish) 130 000 × 10 6 largest known vertebrate

genome
(i) Albinism
Sickle cell anaemia

(ii) Sickle cell anaemia
(iii) Haemophilia
(iv) Colour blindness

Sickle cell anaemia
-When the HBB locus is
transcribed, the mRNA from
Hb has G A G for the 6th codon,
A
which translates to the amino acid

called glutamic acid .
-The mRNA copied from Hb has S
the codon G U G, which codes for

the amino acid valine .
Sickle cell anaemia
- Sickle-cell anaemia is a blood disorder in which red blood cells
become sickle shaped and cannot carry oxygen properly. - It occurs
most frequently in people with African ancestry – about 1% suffer
from the condition and between 10% and 40% are carriers of it.
- Sickle-cell anaemia is due to a single base substitution mutation in

one of the genes that make haemoglobin, the oxygen-carrying
pigment in red blood cells.
Sickle cell anaemia
- When uncontrolled, sickle cell anemia causes many symptoms that vary with the
individual, but can include crisis events of extreme pain, weakness, heart attack or
stroke, pneumonia, bone malformations and death. All of these many effects
come from a single-base substitution – one ‘A’ instead of a ‘T’ – out of the whole
3.2 billion base genome.
- The gene involved is a stretch of DNA on chromosome 11 called . It codes forHBB
the beta subunit of haemoglobin, a polypeptide 146 amino acids long. The
standard Hb allele reads G A G at the 6th triplet of the
A
. The Hb allele reads
sense DNA strand
S
G T G in the same location.

Sickle cell anaemia
A


Sickle cell anaemia
A


- The new shape of the sickled red blood cells causes a lot of problems. They can get stuck and clog
blood vessels anywhere in the body, causing intense pain as blood supply fails. If this happens in the
brain, the person could have a stroke.
Chromosomes
- Sickled cells must be broken down and eliminated from the body, which strains the liver and causes a
shortage of functioning red blood cells (anaemia).
- New red blood cells must be made in the bone marrow to replace the cells lost, and the extra work
can damage bone structure. One-nucleotide change in the DNA can cause so many effects. When one
gene has multiple effects, it is called pleiotropy .
- Sickling events are triggered by low levels of oxygen in the blood, dehydration, infection, and
exposure to sudden temperature changes. A careful lifestyle and medicines can help greatly. Without
treatment, most children with sickle cell anaemia will die in infancy.
Chromosomes
Prokaryotic Chromosomes
- Chromosomes are made of DNA molecules and carry the genetic code for each organism but
prokaryotic and eukaryotic chromosomes are different in their structure.
- Prokaryotes have a much simpler chromosome than eukaryotes.
- Prokaryotes contain a circle of DNA that is often concentrated in one area of the cell, whereas
eukaryotes have linear DNA that is associated with histone proteins.
- Some of these proteins are structural and others regulate the activities of the DNA.
- Prokaryotes have additional genetic material in the form of small circular structures known as
plasmids.
- Prokaryotes are much simpler organisms and so require fewer genes to maintain themselves.
- Chromosomes are made of DNA molecules and carry the genetic code for each organism but
prokaryotic and eukaryotic chromosomes are different in their structure.
- Prokaryotes contain a circle of DNA that is often concentrated in one area of the cell, whereas
eukaryotes have linear DNA that is associated with histone proteins.
- Prokaryotes have additional genetic material in the form of small circular structures known as
plasmids.
- Prokaryotes are much simpler organisms and so require fewer genes to maintain themselves.
- Chromosomes are made of DNA molecules and carry the genetic code for each
organism but prokaryotic and eukaryotic chromosomes are different in their structure.
- Prokaryotes contain a circle of DNA that is often concentrated in one area of the cell,
whereas eukaryotes have linear DNA that is associated with histone proteins.
- Prokaryotes have additional genetic material in the form of small circular structures
known as plasmids.
-Chromosomes The single, circular prokaryotic chromosome is referred to as 'naked'
because it is not associated with any proteins.
- Plasmids are much smaller circular DNA molecules that are easily exchanged between
prokaryotes and may contain several genes.
- Plasmids can be easily exchanged between bacteria, providing a mechanism by which

antibiotic resistance spreads. Antibiotic-resistant bacteria are a major problem in
hospitals.
- Prokaryotes are much simpler organisms and so require fewer genes to maintain
themselves.
Eukaryotic Chromosome
- Eukaryotic species have two or more chromosome types.
- Their chromosomes form pairs, which are known as homologues.
- Homologous pairs are about the same length and carry the same sequence of
genes at the same locations along their length.
- The form of the genes (alleles) on each of the pair are not necessarily the same
because, in sexually reproducing organisms, one chromosome will have been
inherited from each of the two parents. So a gene that determines flower colour in
a plant would be at the same location on each chromosome in a homologous pair
but the allele on the maternal chromosome might not be the same as that on the
paternal chromosome.
Eukaryotic Chromosome

- Their chromosomes form pairs, which are known as homologues.
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information.
Differences between Prokaryotic and Eukaryotic
Chromosomes
Prokaryotic DNA Eukaryotic DNA
cell contains a circular chromosome, chromosomes are made of linear DNA molecules
- Theirsometimes
chromosomes
called a nucleoidform pairs,
enclosedwhich are
in a nucleus, known
bound asmembrane
by a double homologues.
cell contains additional genetic material as no plasmids
small circular plasmids
DNA is ‘naked’ and is not associated with DNA is associated with histone proteins
proteins
cell contains just one circular chromosome cell contains two or more chromosome types
Karyotyping
Karyotyping
Karyotyping
Karyotyping is a test to examine chromosomes in a sample of
cells. This test can help identify genetic problems as the cause of a
disorder or disease.
-A karyogram shows the chromosomes of an organism in
homologous pairs of decreasing length.
-Karyotyping can diagnose only large-scale chromosomal
differences. Conditions caused by differences in one or a few genes
would be invisible at the level of the chromosome.
Non-disjunction
Non-disjunction
Non-disjunction
Non-disjunction
Non-disjunction is a failure of homologous pairs of chromosomes or sister
chromatids to separate properly during meiosis.
- Non-disjunction can occur at anaphase I or anaphase II.
- Non-disjunction can also occur during anaphase of mitosis, though this usually
impacts too few cells to be noticed.
- It results in gametes that contain either one too few or one too many
chromosomes. Those with too few seldom survive, but in some cases a gamete
with an extra chromosome does survive and after fertilisation produces a zygote
with three chromosomes of one type. This is called a trisomy.
Non-disjunction
Non-disjunction can occur at any of the 23 chromosome pairs, resulting in a
gamete with an extra or missing copy of that chromosome.
Down syndrome, which involves chromosome 21 specifically, is well known
because the symptoms are relatively mild. Many trisomies cause symptoms so
severe that the embryo will not develop.
Monosomy, having one chromosome of a homologous pair, can also occur. In
humans there is only one survivable monosomy; having a single X chromosome for
the sex chromosome pair.
- Non-disjunction is a frequent occurrence, but the majority of these gametes do
not mature or take part in fertilisation.
Human defects due to non-disjunction
(i) Down’s syndrome/mongolism (Trisomy 21)

(ii) Klinefelter’s syndrome
(iii) Turner’s syndrome
Down’s syndrome/mongolism (Trisomy 21)
- The victims have 47 chromosomes due to extra chromosome due

to an extra chromosome number 21 in the body cells.
- Higher incidence is among children of older mothers about 40
years old and may be due to depletion of nutrients in the eggs.
- Fathers aged 55 years and above also have increased risk of
producing offspring with Down’s syndrome.
Characteristics of individuals with Down’s syndrome
(i) Have slit eye appearance.

(ii) Reduced muscle tone.
(iii) An upward slant to the eyes.
(iv) Reduced resistance to infections.
(v) Have a degree of learning disability which varies from one
individual to another.
(vi) Posses a small mouth with thick tongue that might be protruding.
Characteristics of individuals with Down’s syndrome
(vii) Have a sandal gap ( a big space between the first

and the second toe)
(viii) Congenital heart problems.
(ix) Have short bodies with stubby fingers.

Klinefelter’s syndrome
- Individuals have an extra sex chromosome; either X or Y
chromosome.
- Males with Klinefelter’s syndrome:
(i) Are infertile due to lack of sperm production and

underdeveloped testes.
(ii) Have reduced facial hair.
(iii) Are generally taller than average with signs of obesity.

- Individuals have an extra sex chromosome; either X or Y
chromosome.
- Males with Klinefelter’s syndrome:
(i) Are infertile due to lack of sperm production and
underdeveloped testes.
(ii) Have reduced facial hair.
(iii) Are generally taller than average with signs of obesity.
- Klinefelter’s males with two XX chromosomes can
undergo X inactivation so that they only have one
active X chromosome.
- Klinefelter’s syndrome individuals with XXX
constitution are females who appear relatively normal.
Turner’s syndrome
- This is when an individual lacks one sex chromosome
(XO or YO).
- They only have 45 chromosomes as a result.
- The YO zygotes do not develop due to absence of many
vital genes often located on the X chromosome.
- XO females show underdeveloped female characteristics:
infertile, no breast development and are short in stature.
(XO or YO).
Foetal karyotyping: methods
and risks
-XO females show underdeveloped female characteristics:
Foetal karyotyping: methods and risks
(XO or YO).
Fetal karyotyping: methods and risks
(XO or YO).
Amniocentesis
(XO or YO).
Amniocentesis
(XO or YO).
Amniocentesis
- Amniocentesis is usually performed between weeks 14 and 20 of pregnancy.
- A doctor uses ultrasound imagery to guide a syringe needle through the

abdomen and uterine wall without piercing the foetus.
-The needle is then used to withdraw a small amount of amniotic fluid.
- Fetal cells floating in the fluid are cultured and karyotyped.
-Risks to the fetus include infection, fetal trauma from the needle, and
miscarriage. The risk of miscarriage is between 0.1 and 1.0%, and varies by
practitioner.
Chorionic villus sampling (CVS)

practitioner.

practitioner.

practitioner.
-This is done during weeks 10–13.
- As in amniocentesis, ultrasound imaging is used to guide the medical professional
during the sampling and avoid harm to the developing embryo or foetus.
Foetal cells are sampled by inserting a suctioning tool (often a catheter or syringe)
through the vagina or abdomen to reach the foetal cells in the chorion.
- The chorion is a membrane that surrounds the fetus and develops into part of the
placenta.
- The risks associated with CVS include bleeding, infection and miscarriage. The
risk of miscarriage is 0.5–2.0%, somewhat higher than with amniocentesis.
Foetal karyotyping: methods and risks
(XO or YO).
INHERITANCE
Learning Areas
The fundamental laws of inheritance proposed by Mendel;
The use of Punnett grids and other tools to predict the
genotypic and phenotypic ratios of offspring;
The laws of probability and comparison of observed and
expected results in genetic crosses;
The patterns of inheritance shown by alleles, including
dominant, recessive, co-dominant, and sex-linked;
Essential idea: The inheritance of genes follows patterns.
Learning Areas
Human conditions that follow each of the above patterns, including Huntington’s
disease, cystic fibrosis, sickle cell anemia, the ABO blood group, haemophilia,
and red–green colour blindness;
The use of pedigree charts to deduce the pattern of inheritance for a genetic trait;
The increase in mutation rate and cancer caused by radiation and mutagenic
chemicals, and
The consequences of radiation following the bombing of Hiroshima in 1946 and
the accident at Chernobyl in 1986.

Key terms
Gene: a piece of DNA containing information about a particular trait
Example: the piece of DNA that determines flower petal colour
Key terms
Genotype: the alleles possessed by an organism – each allele is represented by a letter;
chromosomes come in pairs and so alleles come in pairs – a genotype is therefore
represented by a pair of letters, such as TT or Tt.
Phenotype: the characteristics of an organism; a characteristic may be an external feature,
such as the colour of flower petals, or internal, such as sickle-cell anaemia.
Dominant allele: an allele that has the same effect on the phenotype when in either the
homozygous or heterozygous state; the dominant allele is always given a capital letter – for
example, T
Recessive allele: an allele that only has an effect on the phenotype when in the homozygous
state; a recessive allele is always given the lower case of the same letter given to the
dominant allele – for example, t
Key terms
Codominant: alleles pairs of alleles that both affect the phenotype when present in the
heterozygous state; these alleles are represented in a different way in genetics – a capital
letter is chosen to represent the gene and then other (superscript) letters represent the alleles
(for example, in human blood grouping, A and B are codominant alleles and are represented
as I and I )
A B
Locus: the specific position of a gene on a homologous chromosome; a gene locus is fixed
for a species – for example, the insulin gene is always found at the same position on
chromosome 11 in humans.
Homozygous: having two identical alleles at a gene locus; the alleles may both be dominant
or both recessive – for example, TT or tt
Heterozygous: having two different alleles at a gene locus – for example, Tt.
Key terms
Test cross: testing a dominant phenotype to determine if it is heterozygous
or homozygous – for example, crossing either TT or Tt with tt; if there are
any offspring with the recessive phenotype, then the parent with the
dominant phenotype must be heterozygous (Tt) Carrier an individual with
one copy of a recessive allele that causes a genetic disease in individuals
that are homozygous for this allele
Pure-breeding: individuals of the same phenotype that, when crossed with
each other, produce offspring which also all have that same phenotype.
Basics of
Mendelian
Human conditions that follow each of the above patterns, including Huntington’s
genetics (1822-
disease, cystic fibrosis, sickle cell anemia, the ABO blood group, haemophilia,
1884)
and red–green colour blindness;
The use of pedigree charts to deduce the pattern of inheritance for a genetic trait;
The increase in mutation rate and cancer caused by radiation and mutagenic
chemicals, and
The consequences of radiation following the bombing of Hiroshima in 1946 and
the accident at Chernobyl in 1986.

1. The law of segregation
- To segregate means to divide and separate.
- The inheritance of each characteristic is controlled by a pair of alleles in
an individual.
- The two alleles are separated during meiosis so that each gamete
contains only one allele for each gene.
- Alleles are passed from one generation to the next as distinct units.
(There is an exception for genes found on the sex chromosomes. There is
a further exception for mitochondrial , which is inherited only from the
DNA
mother.)
2. The law of independent assortment
-The allele inherited for one trait does not affect which
allele will be inherited for any other trait.
- A gamete contains one copy of each gene; which copy it
receives during meiosis is the result of random orientation
of homologous chromosomes during metaphase I. ( There
is an exception for genes whose loci are close together on
the same chromosome. These are called linked genes.)
3. The law of dominance:
-In an organism with two different alleles, one allele
will determine the trait. The allele that determines
the trait is dominant; the unexpressed allele is
recessive. (There are exceptions for patterns of
inheritance other than dominant–recessive, e.g. co-
dominance.)
-In an organism with two different alleles, one allele
Patterns ofThe
will determine the trait. inheritance
allele that determines
the trait is dominant;and
the unexpressed allele is
recessive. (There are exceptions for patterns of
Punnett grids
inheritance other than dominant–recessive, e.g. co-
dominance.)
Punnett grids/Punnet squares
Punnett grids/Punnett squares, these are diagrams used to determine the expected
ratio of genotypes and phenotypes in the offspring of parents with known genotypes.
- The simplest use of a Punnett grid is a monohybrid cross, where only one

characteristic is investigated.
- Punnett grids/squares are set up in the following way:
The possible alleles found in the egg are shown along an outside edge of the grid,
and the alleles possible in the sperm are shown along an adjacent edge.
The internal boxes show the allele combinations that can be produced by fusion of
the gametes. They represent the genotypes that could be found in the offspring.
Monohybrid Inheritance

Inheritance of Co-dominance



Inheritance of ABO blood groups

Genetic disorders: sex-linked traits

Red green colour blindness
olour blindness

Cystic fibrosis
and
Huntington's
disease
The possible alleles found in the egg are shown along an outside edge of
Cystic fibrosis
the grid, and the alleles possible in the sperm are shown along an adjacent
edge.
The internal boxes show the allele combinations that can be produced by
fusion of the gametes. They represent the genotypes that could be found in
the offspring.
Cystic fibrosis
edge.
the offspring.
Cystic fibrosis
edge.
the offspring.
Huntington's disease
edge.
the offspring.
edge.
the offspring.
edge.
the offspring.
edge.
the offspring.
Reading Assignment
(i) Radiation and causes of

mutations.
(ii) Predicted versus actual
outcome.
Genetic
modification and
biotechnology
Group Presentations
Group 1: Gel Electrophoresis and Polymerase Chain Reaction
Group 1: Mubea,
(PCR)
Miriam and Derian.
Group 2: DNA Profiling and Genetic modification: gene transfer Group 2: Linzy, Joel
Group 3: Assessment of the risks of the genetic modification of and Grace.
crops Group 3: Marion,
Group 4: Clones Zenna and Raphael.
Group 5: Data analysis: the effect of Bt crops on the monarch Group 4: Fridah,
butterfly and Factors affecting rooting of stem-cuttings Idris and Valary.
Group 5: Christine,
Essential idea: Biologists have developed techniques for artificial
Faith and Joachim.
manipulation of DNA, cells and organisms.

3.0 Genetics

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3.0 Genetics

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3.

DONEC QUIS NUNC

DONEC QUIS NUNC

DONEC QUIS NUNC

DONEC QUIS NUNC

DONEC QUIS NUNC

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Chromosomes – long DNA molecules, which contain many

genes/ Threadlike structure of DNA and protein containing genetic

Chromosomes – long DNA molecules, which contain many

genes/ Threadlike structure of DNA and protein containing genetic

DONEC QUIS NUNC

DONEC QUIS NUNC

DONEC QUIS NUNC

DNA is packaged and organisedDONEC

a gene on a particular chromosome is called the locus (plural = loci)

DONEC QUIS NUNC

DONEC QUIS NUNC

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- The basic structures of DNA and RNA are very

DONEC QUIS NUNC

- The phosphodiester bond is always formed between the

DONEC QUIS NUNC

-DNA is made up of two strands

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-DNA is made up of two strands

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(i) Chromosome [3]

(ii) Genes [3]

(iii) Alleles [3]

(iv) Nucleosome [3]

(v) Nucleotides [3]

- Genes achive their effects by directing the synthesis of .

(a) Chromosomal mutations.

- This involves changes in the structure of the genes.

- Gene mutations results from a change in the chemical

- Gene mutation can alter the amino acid sequence leading

- This can alter the normal amino acid

- This can alter the normal amino acid sequence and

- This can lead to a change in the

- This can lead to a change in the proteins produced.

- The base sequence of the gene is

(ii) Sickle cell anaemia

(iv) Colour blindness

- The genome is the totality of genetic information of

- The genome is the

a cell, organism or organelle/A genome is all the

Homo sapiens (human) 22 000–25 000 46

Drosophila melanogaster (fruit fly) 13 000–14 000 8

Escherichia coli (bacterium) 1700–3000 1

- The genome is the totality

a cell, organism or organelle/A genome is

Homo sapiens (human) 3200 × 106

Protopterus aethiopicus (marbled lungfish) 130 000 × 10 6 largest known vertebrate

Sickle cell anaemia

(iv) Colour blindness

which translates to the amino acid

-The mRNA copied from Hb has S

the codon G U G, which codes for

- Sickle-cell anaemia is due to a single base substitution mutation in

G T G in the same location.

which translates to the amino acid