Unit 3: Genetics

2IB Biology
Spring 2024
 A1.2 Nucleic acids
• Johannes Friedrich Miescher, a
Swiss physician and biologist was first
to identify a phosphate-rich chemical
from the nuclei of white blood cells in
1869, which he called nuclein.
• The roles that nucleic acids play as
the information molecules in cells
would not be discovered until the
1900’s.
• Deoxyribonucleic acid (DNA) and
ribonucleic acid (RNA) are the two
most important nucleic acids
• DNA is the molecule that provides the
long-term stored genetic information
for all organisms on Earth, while RNA
allows the information stored in DNA
to be expressed as proteins.
 A1.2.2 The structure of nucleotides

• Both DNA and RNA are polymers

made of nucleotides (found in
chains > 1000)

• Nucleotides are made up from

three components:
– a 5-carbon sugar (pentose)
– a phosphate group (PO43-)
– An organic nitrogenous base

One nucleotide
A1.2.4 Nitrogenous bases within nucleic acids
• Shown here are the four different nitrogenous bases found in
DNA nucleotides. Note that Guanine and Adenine, the purines,
have two rings, while Cytosine and Thymine, the pyrimidines,
have only one ring.
 A1.2.5 The structure of RNA
• RNA is a single-stranded nucleic acid formed when nucleotides
are joined together by condensation reaction between the
pentose sugar of one nucleotide and the phosphate group of the
next nucleotide.
 A1.2.3 & 6 The structure of DNA

DNA is a double helix made of two antiparallel strands of nucleotides,

which are linked by hydrogen bonding between complementary base
pairs

Students should be
able to label on the
diagram:
deoxyribose sugar,
phosphate, a
nitrogenous base (T, A,
C, or G), hydrogen
bonds between DNA
strands, and covalent
bonds between all atoms

Useful biochemistry link:

http://www.rsc.org/Education/Teachers/Resources/cfb/nuclei
cacids.htm
 Discovery of DNA structure

• James Watson and Francis Crick,

and Maurice Wilkens determined
DNA’s double helix structure in 1953,
using three-dimensional models and
the X-ray diffraction technique

• This won them all the Nobel Prize in

medicine in 1962.

The DNA Double Helix Discovery — HHMI BioIntera

ctive Video - YouTube
 Check for understanding:
Answer «Challenge
Yourself» questions #6-8 on
p. 20.
After you are finished, take a
picture of your work and
upload it to the page that has
been distributed to your «In-
class assignments folder on
OneNote

* For question #6, also label the hydrogen bonds shown between pairs of
complementary bases.
 A1.2.7 Distinguishing between DNA and RNA
DNA and RNA are both polymers of nucleotides, however differ in a
few key structural aspects:

•Number of strands present

•Composition of nitrogenous bases
•Type of pentose sugar
 A1.2.7 Distinguishing between deoxyribose and
ribose sugars
• Note the difference between deoxyribose and ribose, where an OH-
group substitutes for the hydrogen on the 2’carbon.
• In biochemistry, the carbons in sugar groups are often numbered
with the “prime” symbol (as in 2’), to show that the carbon referred
to is part of the sugar and not another molecule
 Other examples of nucleic acids

• Adenosine triphosphate (ATP), which is a single-nucleotide

nucleic acid that is used in cells as a type of chemical energy.

Check for
understanding:
Answer «Challenge
Yourself» questions
#9-11 on p. 22 on the
page that has been
distributed to your «In-
class assignments
folder on OneNote
 D1.1 DNA replication

• DNA replication is the production of exact copies of DNA that

contain identical sequences of nitrogenous bases.
• DNA must be duplicated for continued growth and tissue
replacement, and so that reproduction of organisms is possible.
• The process of DNA replication begins with «unzipping» the DNA
as the enzyme helicase helps break the hydrogen bonds between
the two DNA strands.
 • Next, the enzyme DNA polymerase then links nucleotides
together to form two new antiparallel strands, using the pre-
existing strand as a template.

• The replication of DNA is thus semi-conservative (i.e., one-

half of the pre-existing DNA molecule is saved) and depends
on complementary base pairing.

Animation of DNA replication is here

 D1.2 Protein synthesis
• Protein synthesis begins with the process of transcription, during which a
strand of RNA is made using the base sequence in DNA as a template.
• The process of transcription begins when a segment of the DNA molecule (or a
gene) that codes for a polypeptide inside the nucleus becomes unzipped.
• Next, the enzyme RNA polymerase catalyzes the formation of one new single-
stranded molecule of messenger RNA (mRNA) by attaching to the template
strand of DNA, and then attaching to it the complementary RNA nucleotides.
• Each mRNA molecule represents a complementary copy of one gene of DNA
that codes for one polypeptide.

Note that in
mRNA the
base uracil
substitutes
for the base
thymine
 D1.2.5 The synthesis of polypeptides
• Translation is the next stage of protein synthesis, during which
the base sequence of mRNA is translated into the amino acid
sequence of a polypeptide/protein.
 D1.2.6 RNA and ribosomes

• There are three major types of RNA are involved in translation:

1) messenger RNA (mRNA)
2) ribosomal RNA (rRNA)
3) transfer RNA (tRNA)

• The role of each type of RNA in protein synthesis is shown in the

table below:
• During translation, each set of three bases (called a codon) found in
a strand of mRNA is paired with the set of three complementary
bases (called an anticodon) found on tRNA (transfer RNA).
• Each codon on mRNA will ensure that a specific amino acid is
added to the polypeptide being assembled at the ribosome,
according to the universal genetic code.

Animation of protein synthesis is here

The two-dimensional clover-leaf structure of transfer
RNA (tRNA) is shown below
 Third letter
The genetic code is said to be degenerate, which means that for
each amino acid, there may be more than one codon.
D1.2.10 Producing a polypeptide chain
 Did I get this?
Do «Challenge yourself» task #1 on p. 403. Use the genetic code/mRNA
codon chart (p. 402 in the Biology textbook) to help you compete the task.
 Review from last class: discuss the following
questions with your partner

1. If DNA being transcribed contains the nucleotide

sequence ACCTGAT, what sequence will the mRNA
have?

2. Suppose a molecule of mRNA has the codon GUC.

What will the anticodon sequence be on the tRNA
that binds to it? Which amino acid will the tRNA be
carrying?
 D1.3.1 Gene mutations
• Mutations (mutasjoner) are changes that occur in the sequence of nitrogen
bases found in a DNA molecule.
• Different types of mutations that can occur in DNA include the following:
1) Substitution (one or more nitrogen bases are substituted for a certain base(s)

Example: Single point mutation (also called a single-nucleotide polymorphism,

or SNP) involving color vision in humans

2) Insertion (insertion of an extra nucleotide in a DNA sequence)

Example: Multiple copies of three nucleotides (CAG) are added to a gene
(also called a trinucleotide repeat expansion), such as
Huntington’s disease

3) Deletion (deletion of a nucleotide in a DNA sequence)

Example: Mutation of the CCR5 receptor gene called the delta 32
mutation, in which 32 nucleotides have been removed. Because 32 is not a
multiple of 3, the deletion causes a frameshift, and a stop codon is formed
where it should not be
A change in the sequence of one nitrogen base in
DNA makes color vision impossible for humans
Consequences of insertions in the huntingtin (HTT) gene
Consequences of deletions in the CCR5 gene
Case study of a single base
substitution: Sickle cell disease

Sickle cell disease is a group of inherited red

blood cell disorders that affect hemoglobin, the
protein that carries oxygen through the body.

Hemoglobin
gene

Video: Sickle Cell Anemia: A Patient's Journey is here

 D1.3.4 Mutagens and replication errors
• A mutation can occur spontaneously during DNA
replication, or through exposure to mutagens.
• Mutagens are physical or chemical agents that
cause changes in the genetic material, usually DNA.
• Examples: Ionizing radiation (e.g., x-rays, ultraviolet,
nuclear), substances present in the environment,
such as benzene, vinyl chloride, asbestos,and
tobacco smoke.
• Some mutations are random, and occur during DNA
replication.
• Mutations can occur in any sequence of
nucleotides, both in coding and non-coding DNA
• Most errors are recognized and corrected by the
enzyme DNA polymerase
 Consequences of radiation after accident at the Chernobyl
nuclear power plant

• An uncontrolled chain reaction of

nuclear fuel resulted in a severe
release of radioactivity that
destroyed the nuclear reactor in
Chernobyl, Ukraine on April
26,1986.
• Most deaths from the accident were
caused by acute radiation poisoning
from cesium-137 and strontium-90
reactor waste products.
• The World Health Organization
(WHO) believes 28 people died of
acute radiation sickness due to the
accident, and found radiation to be
the cause of an additional 15 deaths
amongst children who developed
thyroid cancer from 1986-2005.
• Source:
Nuclear Reactor Accidents - History and
Legacies | Atomic Heritage Foundation Chernobyl’s haunting impact, 30 years l
ater | PBS NewsHour
 D1.3.6 Mutations in germ cells

• If a mutation occurs in germ

cells, i.e. sex cells or
gametes which are produced
by meiosis, are said to be
hereditary, and they may be
passed on to offspring

• Examples: Huntingtons
disease, cystic fibrosis, and
certain forms of cancer.
 D1.3.6 Mutations in somatic cells

• Mutations that occur in all

other cells of the body, or
somatic cells, are said to be
acquired, and can not be
passed on to offspring.

• Examples: Skin or bone

cancers
 D1.3.7 Genetic variation

• Most mutations are harmless to

individuals, because either the
mutations occur in DNA regions that
do not encode proteins, or because
the body repairs the damaged DNA.

• Mutations provide a constant source

of genetic variation that is necessary
for evolution to occur.

• Example: Genes for the digestion of

lactose in milk have given adults
with the gene a survival advantage
over those who lack the genes.
 A3.1.8 Unity and diversity of genomes

The goals of the Human Genome Project (1990-2003)

were to:
The locus for
• identify all the approximately 22,000 genes in the the BRCA gene
has been
human genome (i.e., all of the genetic material of an located, the
organism) gene occurs in
• determine the sequence (or order) of the 3 billion females on
nucleotide bases that make up human DNA, chromosome
#17 is shown in
• improve tools for data analysis and transfer related red.
technologies to the private sector
• address the ethical, legal, and social issues that may Source:
arise from the project. Genecards
database
http://www.gene
• Video: How to sequence a gene: cards.org/cgi-
bin/carddisp.pl?
https://www.science.org.au/curious/people-medicine/hu
man-genome-project gene=BRCA1

• Private services now offer personal gene sequencing:

DNA Genetic Testing For Ancestry & Traits - 23andMe Internat
ional
 A3.1.9 Eukaryote genomes

• Sequences of amino acids are also used to examine

genetic relatedness between species
• Similarities in amino acid sequence show unity within
species, or diversity between species
A3.1.10 Comparison of genome sizes in different
organisms

Genome size is the total amount /quantity of DNA in the nucleus of an

organism’s cells
 Skill: Use of a database to compare genes between
different species
• On-line genetic databases provide information about the DNA nucleotide sequences and genes
contained in a variety of different living organisms.
Example: GenBank https://www.ncbi.nlm.nih.gov/nuccore/

To identify a specific gene sequence:

1) Change the search parameter from nucleotide to gene and type in
the name of the gene of interest
2) Choose the species of interest and click on the link (under ‘Name / Gene ID’)
3) Scroll to the ‘Genomic regions, transcripts and products’ section and click on
the ‘FASTA’ link

Examples of different genes that may be searched for:

• HBB – Haemoglobin beta gene
• COX1 – Cytochrome oxidase 1 gene
• F8 – Coagulation factor VIII gene
• IGF1R – Insulin growth factor 1 receptor gene
 A3.1.6 Diversity in chromosome numbers

• The number of chromosomes is constant for members of the same

species, except in sex cells, which contain only half of the full
chromosome number.
• Sex cells, or gametes, are in the haploid (n) state, since they contain
only one-half the number of chromosomes as found in somatic or
body cells, which are in the diploid (2n) state.
• Any chromosome that is not a sex-chromosome is called an
autosome.
• Humans have 22 pairs of autosomes and one pair of sex
chromosomes.
 D3. 2.11 Sex determination in humans

Mother Father

23 pairs of 23 pairs of
chromosomes chromosomes

Meiosis
Sex cells

23 unpaired 23 unpaired 23 unpaired 23 unpaired

chromosomes chromosomes chromosomes chromosomes

Fertilisation

23 pairs of
chromosomes

Child
 Sex determination in humans

Mother Father
XX XY
Meiosis

Sex cells X X X Y

X Y
Fertilisation X XX XY Possible
children
X XX XY
Chance of a girl 50%
Chance of a boy 50%
 D3.1.2 The role of meosis and gametes

• A gene is a heritable factor that

consists of a segment of DNA that
codes for a specific protein.
• Physically, genes occur at specific
positions, called the locus (or loci, pl)
on a chromosome.
• Alleles are different forms of a gene.
For example, the purple and blue
chromatids (at right) contain different
alleles coding for different traits.
• Pairs of alleles occupy the same loci
on different chromosomes.
• Chromosomes are arranged in pairs,
so they called homologous pairs
(one from each parent).
• Homologous chromosomes
resemble each other in structure,
and contain the same sequence of
genes.
 D2.1.9 Meiosis
• Meiosis is nuclear cell division in organisms that sexually
reproduce, which results in haploid gametes (sex cells) with
one-half the number of chromosomes (n) of the diploid somatic
cells (2n).
• Meiosis therefore is often referred to as reduction division.
• Animation summarizing the stages of meiosis is here
• Unlike mitosis, the process of meiosis is a tremendous source
of genetic variation in species.
• The process of crossing over and recombination of non-sister
chromatids during prophase I generate enormous variation in
sex cells.
• In addition, the independent assortment of maternal and
paternal chromosomes near the equator of the cell during
metaphase I is known as random orientation. The result is 2 23
possible combinations of chromosomes, before going into
meiosis II.
 Meiosis activity

• Work with your partner to sort the micrographs of

different stages of meiosis observed in grasshopper
cells, and place them in the correct order in which
they occur.

• Use your textbook (pp. 434-435) and/or the meiosis

video seen in class, to answer the questions on the
handout.
D.3.2.1 Haploid gametes and diploid zygotes
Random orientation of homologous pairs of chromosomes
during metaphase I
The result is 2 23 (over 8 million) possible combinations of
chromosomes
The process of crossing
over of non-sister
chromatids during
prophase I of meiosis
generates enormous
variation in sex cells.
 A3.1.7 Karyotypes
• A karyogram is a photo or a diagram of an organism’s karyotype,
showing the homologous pairs of chromosomes in the nucleus of a
eukaryote in decreasing size.
• Karyotyping is one of many techniques that allow doctors to look for
several thousand possible genetic diseases in humans, for example
Down’s syndrome.

Female Male
 Karyotyping activity

• Use the link on OneNote to access the site:

http://www.biology.arizona.edu/human_bio/activities/
karyotyping/karyotyping.html
• You will evaluate 3 patients' case histories, complete
their karyotypes, and diagnose any missing or extra
chromosomes.
• Read the information on the first page of the website,
then click on the «Patient Histories» tab to begin the
activity.
• Record your answers to the questions about each
patient’s history and diagnosis.
 The evolution of human chromosome 2
Problem:
•Modern humans are suspected to share a common
(now extinct) ancestors with both gorillas and
chimpanzees approx. 8 mya and 6 mya, respectively.
•Modern humans have 46 chromosomes, while both
gorillas and chimpanzees have 48 chromosomes.
•So if humans did share a common ancestor with
these species, what happened to our chromosome
number?

Two possible hypotheses:

1) A complete chromosome disappeared
2) Two chromosomes from an earlier common
ancestor fused to become a single chromosome.
 D3.2 Inheritance
• Genetics is the study of inheritance of
genes from one generation to the next.
• The «father» of genetics was the
Austrian monk Gregor Mendel, who
performed experiments with about
29,000 common pea plants between
1856 and 1863.
• Mendel found that the inheritance of
each trait in the pea plants determined
by "factors" that are passed on to
descendents unchanged.
• He also found that one of the factors
for a pair of inherited traits will be
dominant and the other recessive,
unless both factors are recessive.
 D3.3.3.2 Genetic crosses in flowering plants
Punnett squares are diagrams that
show probabilities of offspring based
on the genotype of the parents (i.e,
the combination of alleles that control
a trait).

Example:
Purple flower color allele (B) is
dominant over white flower color
allele (b). An individual can have one
of the following genotypes:

homozygous dominant (BB)

homozygous recessive (bb)
heterozygous (Bb)

•Phenotype is the physical

appearance of the trait , i.e. purple or
white colored flowers
Genotype vs. phenotype
 Test cross

• A test cross is performed by testing a suspected heterozygote

by crossing it with a known homozygous recessive

• For example, if after crossing a tall (TT or Tt) pea plant with a
dwarf (tt) pea plant, the cross yields a 50:50 ratio of tall and
short plants, the tall plant must have had the genotype Tt.
 D3.2.6 Phenotype plasticity
• Phenotype plasticity is an organism’s ability to express its
phenotype differently depending on the environment
 Activity: The Genetic Wheel
Purpose: To examine the class distribution of different genotypes and
phenotypes for single trait genes.

Procedure: Work with your

partner. Start in the center of the
wheel and mark off all of your
own traits. The sum of your
indiviual traits will lead you to a
number on the outermost ring of
the wheel.

Compare your results with others

in the class, and answer
Questions #1-5 on the back of
the handout
 3.2.7 Recessive genetic conditions
• Autosomal recessive diseases
are only transferred to a child
that receives two of the
recessive genes, one from each
parent.
• Examples include:
- Phenylketonuria (PKU)
- Sickle cell anemia
- Cystic fibrosis (video is here)
- Albinism

• Autosomal dominant diseases

are transferred to a child that
receives only one of the
recessive genes
A carrier is an individual who has a
• Example: recessive allele of a gene that does
- Huntington’s disease not have an effect on the person’s
(video is here) phenotype
 D3.2.9 ABO blood groups
• Blood types are inherited and represent contributions from both parents.
• The ABO blood group system of humans is an example of codominance in
which multiple alleles (genes that have more than two alleles) exist.
• Blood type in humans is determined by the presence or absence of proteins
called type A antigens and type B antigens found on the surface of red blood
cells.
• An individual's ABO type is determined by the inheritance of 1 of 3 alleles (A, B,
or O) from each parent. The possible outcomes are shown below:

Possible A B O
Parent Alleles

A AA AB AO
(A) (AB) (A)
B AB BB BO
(AB) (B) (B)
O AO BO OO
(A) (B) (O)
Antigens and antbodies present in human blood
 D3.2.10 Incomplete dominance

• Incomplete dominance describes the case in which a cross

between organisms with two different phenotypes produces
offspring with an intermediate phenotype in which both of the
parental traits appear together (i.e, a heterozygote shows the
phenotypic effects of both alleles fully & equally.)

Example: Four o’clock flowers

R = allele for red flowers
W = allele for white flowers
RW = genotype for pink flowers
 D3.2.12 Sex linkage
• The genes carried on a particular chromosome are called a linkage
group.

• Sex linkage is the association of a characteristic or trait with gender,

because the gene controlling the trait is located on a sex
chromosome.

• Sex-linked genes are almost always located on the X chromosome.

• In humans, hemophilia, Duchenne’s muscular dystrophy, and red-

green color blindness are all examples of sex-linked diseases.
Example

•Hemophilia in humans is a genetic disease in which the blood

does not clot properly, and are at risk of bleeding to death from
minor injuries.
•Hemophilia is due to an X-chromosome mutation. What will be the
results of mating between a normal (non-carrier) female and a
hemophilac male?
A half of daughters are normal and half of sons are hemophilic
B all sons are normal and all daughters are carriers.
C half of sons are normal and half are hemophilic; all daughters
are carriers.
D all daughters are normal and all sons are carriers.
E half of daughters are hemophilic and half of daughters are
carriers; all sons are normal.

Additional practice problems for sex-linked traits/diseases:

http://www.biology.arizona.edu/mendelian_genetics/
problem_sets/sex_linked_Inheritance/05Q.html
 Pedigree Charts

• A pedigree chart shows the ancestry of family members, and how a

trait can pass from one generation to the next.
• Males are shown as squares and females as circles.
• If an individual exhibits a trait, the circle or square is filled in. If they
lack a trait, the circle or square remains open
A horizontal line
P joining a circle
and square
F1 means that the
couple had a
F2 child/children
together
F3
Did I get this? Study the worked example on p. 487
 D3.2.14 Continuous variation
• Polygenic inheritance involves two or more genes influencing the
expression of on trait.
• Occurance of several different phenotypes as a result of polygenic
inheritance is called continuous variation.
Examples: Skin color or height in humans
 D1.1.4 Amplifying and separating DNA

• DNA is commonly extracted from a sample of blood,

hair root, semen or body cells taken from a person.
• In order to amplify the DNA (i.e., increase the
amount of DNA), a polymerase chain reaction
(PCR) can be used to make billions of copies of the
DNA in a short amount of time (see animation here)
• Afterwards, special enzymes are used to cut up the
long strands of DNA into different-sized fragments.
• The resulting fragments are separated by a
laboratory technique called gel electrophoresis (see
animation here).
• The heaviest and least charged particles will not
travel as far in the gel as the lighter, most charged
DNA fragments, creating a band of patterns that can
be imaged under UV-light and then photographed.
 D1.1.5 Applications of amplifying and separating DNA

• DNA profling or DNA fingerprinting is the

analysis of DNA to reveal the identity of an
individual, or to match an unknown DNA sample
with known sample to see if they correspond.

DNA profiling may be used for:

• Forensic investigations
• Paternity suits
• Identification of genes associated with diseases
or higher risk for the diseases (gene testing)

• Check for understanding: Discuss Challenge

Yourself question #1 on p. 393 with your partner.
 DNA Extraction Lab

• Work in groups

• Follow procedures carefully

• After the experiment, clean

the glassware, and set it in
the drying rack

• Answer questions #1-5 in

your personal folder «Lab
reports» on OneNote