Genetic Terminology

 Trait - any characteristic that can be

passed from parent to offspring
 Heredity - passing of traits from parent to
offspring
 Genetics - study of heredity
 Alleles - two forms of a gene (dominant & recessive)
 Dominant - stronger of two genes expressed in the
hybrid; represented by a capital letter (R)
 Recessive - gene that shows up less often in a
cross; represented by a lowercase letter (r)
 Terminology
 Genotype - gene combination for a trait (e.g. RR, Rr, rr)
 Phenotype - the physical feature resulting from a
genotype (e.g. red, white)
• Genome- entire genetic material of an organism.
Meiosis 2 stage cell division, resulting in haploid daughter cells
(gametes).
Diploid A cell containing 2 complete sets of chromosomes, 1 from each
parent.
Haploid A cell containing a single set of unpaired chromosomes (half the
amount)
Gene A short section of DNA which codes for a particular protein
Chromosome A cross shaped structure found in the nucleus – made of DNA –
46 in human body cells (diploid) and 23 found in gametes
(haploid)
 Terminology
 Homozygous genotype – When the two
alleles are same (dominant or 2 recessive
genes) e.g. TT or tt; also called pure
 Heterozygous genotype – When the 2 alleles
are different- one dominant & one recessive
allele (e.g. Tt); also called hybrid
Punnet Square- A square that we can use to calculate
probability of the child having certain traits

Offspring- a new organism

produced by a living thing
 Terminology
 Pedigree-A family tree that records and traces
the occurrence of a trait in a family
Karyotype- Display of a
person's 46 chromosomes

Offspring- a new organism

produced by a living thing
 Label the DNA structure diagram.

The basic units of DNA are nucleotides. These

nucleotides consist of a deoxyribose sugar,
phosphate and base.

The DNA molecule is a polymer made up of

repeating units called nucleotides.

Each base is attached to the sugar molecule of

the ‘backbone’ of the DNA.

There are four different bases in DNA:

• adenine (A)
• thymine (T)
• cytosine (C)
• guanine (G).

There are 4 different types of nucleotides as

there are 4 different bases.
There are chemical cross-links between the two strands in DNA,
formed by pairs of bases. They always pair up in a particular way, called
complementary base pairing:

Adenine (A) always pairs with Thymine (T)

Cytosine (C) always pairs with Guanine (G)

Bases always pair up in the same way

It is the sequence of base pairs in a gene that provides the code for
the cell to build a protein.

Describe how the sequence

of proteins is determined.
Complete DNA structure
cut and paste.
 We have several hundred
thousand proteins in our
bodies. Some of these are also
found in other organisms. Our
hair is the same chemical as
feathers, hooves, horns and
the shell of a tortoise.

List three types of protein.

 Genes are sections of the DNA. Each gene has the code for creating
a specific protein. Proteins are essential chemicals that are involved
in nearly every task in the life of the cell. Although proteins are very
different in structure, they are all made up of the same 20 types of
amino acids.

How many types of amino

acids are there?
It is the number and combination of these amino acids, and the order
in which they’re arranged, that’s important. The sequence of bases in
the gene controls which amino acids are created and joined to make a
specific new protein (or enzyme) molecule. The four bases (A, C, T
and G) work in threes: there is a three-letter code (or triplet) for
each amino acid.
For example, GGT codes are found in glycine but TCA codes are
found in serine, a different amino acid.
Protein
How many bases do you need to form an amino acid?
synthesis
animation
Proteins are synthesised on ribosomes (in the cytoplasm), according
to a template made up of bases of a gene that have been unzipped
from DNA.

Carrier molecules bring specific amino acids to add to the growing

protein chain in the correct order.

Carrier
molecule
Mutations are changes that can occur in an organisms DNA. These
can be on a chromosome level or changes to the base sequence of the
DNA. These changes are random and can be caused by background
radiation and chemicals that we come into contact with, e.g. the
chemicals in cigarette smoke. They are errors that are made when a
cell divides, or when the instructions to produce a protein are being
copied.

When do mutations
in organisms DNA
occur?
Sometimes changes caused by mutations can be so severe that the
cell dies, sometimes the cell can divide uncontrollably and become
cancerous in a body cell, and sometimes the changes are small and
the cell survives. If a mutation occurs in cells that produce eggs and
sperm, it may lead to a genetic disorder (e.g cystic fibrosis) in the
offspring. .

Very rarely, the changes may even be beneficial to us and produce

new and useful characteristics which can help an organism survive.

Higher Tier
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Higher Tier Mutation
Only video

Because we have two copies of each gene, it’s likely that, if one is
faulty, the other will be normal; so the protein can be produced as
normal.
In the genetic code, there are instances where several combinations
of base triplets code for the same amino acid. So, a change in a
single letter may not lead to a change in the amino acid sequence in
the protein.
There are many instances where one amino acid is substituted for
another; the protein is changed but is still able to carry out its
function.
If a mutation occurs in non-coding DNA, it may affect how a gene is
expressed. Occasionally, mutations can be beneficial. Mutations are
one of the driving forces of evolution.

Why don’t all mutations lead to change in a protein?

Higher Tier
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Single gene mutations involve the

alternation of a DNA nucleotide as a
result of the substitution, insertion or
deletion of nucleotides.

How can the base sequences of a gene

change in a mutation?
Higher Tier
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LO:
• Describe the structure of DNA using diagrams.
• Explain how the bases on the two strands link together.
• HT: Describe in simple terms how a protein is synthesised.
• HT: Explain the importance of the shape of a protein for enzyme
action and function.
• HT: Describe what a mutation is and how a mutation could affect
the formation of a protein.
• HT: Explain that most mutations have little effect but a few have
more serious effects on the function of the protein.
Keywords: mutation, ribosome, base, complementary, double helix,
genetic code, nucleotide, polymer, amino acids, gene mutation.
 Linked to
Enzymes in
Organisation

Explain how
can a change
in an amino
acid in an
enzyme can
affect its
activity.

A change in the bases that code for a protein may lead to

a different amino acid being assembled into the protein.
If the protein is an enzyme, it may lose its active site and
no longer function.
Higher Tier
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A few gene mutations can have serious effects. A change in the

bases that code for a protein may lead to a different amino acid
being assembled into the protein. Some base triplets are designed to
terminate a protein. So, some mutations can lead to the synthesis of
a shorter protein. With these changes, the protein will have a
different shape.
Higher Tier
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Not all parts of DNA code

for proteins. More than 98%
of the human genome does
not encode protein sequences.
Non-coding parts of DNA can
switch genes on and off, so
variation in these areas of
DNA may affect how genes
are expressed.

Explain what
happens at non-
coding parts of DNA junk video
DNA.
5 marks
 (mutation) changes from C to T DNA code
or
there is a change in the three bases / triplet from CAG to TAG
1
(mutation) changes the amino acid
1
(this could) change the protein
1
(so it) forms a different shape / changed active site
accept different tertiary structure
1
(therefore) the enzyme no longer fits the substrate / carbohydrate
1
List the four bases in DNA.

A DNA IS a double-stranded helix held

together by complementary base pairs (like
a ladder that has been twisted).
DNA holds the instructions for growth and
development in every living thing. Its
structure is described as a.

The basic units of DNA are nucleotides.

These nucleotides consist of a deoxyribose
sugar, phosphate and base.

There are four different bases in DNA:

• adenine (A)
• thymine (T)
• cytosine (C)
• guanine (G).
 Types of Genetic Crosses
 Monohybrid cross - cross involving a
single trait. e.g. flower color
 Dihybrid cross - cross involving two traits
e.g. flower color & plant height
Mendel’s Laws
1. Law of Dominance

2. Law of Segregation

3. Law of Independent assortment

 Law of Dominance
 States that on crossing homozygous
organisms for single pair of contrasting
characters, only one character, the
Dominant character, make its
appearance in F1 generation.
 Law of Segregation
• During the formation of gametes (eggs or
sperm), the two alleles responsible for a trait
separate from each other.

• Alleles for a trait are then "recombined" at

fertilization, producing the genotype for the
traits of the offspring.
 Law of Independent
Assortment
• Alleles for different traits are distributed
to sex cells (& offspring) independently of
one another.

• This law can be illustrated using dihybrid

crosses.
 Mendel’s Experimental
Methods
•

•Mendel hand-pollinated
flowers using a paintbrush
–He could snip (cut) the
stamens to prevent self-
pollination
•He traced traits through the
several generations
 Why Did Mendel uses peas,
Pisum sativum?
Can be grown in a small area

Produce lots of offspring

Produce pure plants when allowed to self-

pollinate

several generations

Can be artificially cross-pollinated

Bisexual.

Many traits known.

Above all, easy to grow