Learning Competency

•Explain how mutations may

cause changes in the structure
and function of a protein
Chromosomes
&
Genes
• Chromosomes
✔ Strands of DNA that contain all of
the genes an organism needs to
survive and reproduce
• Genes
✔ Segments of DNA that specify how to
build a protein
•genes may specify more than one
protein in eukaryotes
• Chromosome Theory of Heredity
✔ States that genes are located in
chromosomes & that the behavior of
chromosomes during meiosis & fertilization
accounts for the inheritance pattern
✔ Walter S. Sutton (1877-1916)
• Gene linkage
✔ Occurs when genes that are closed together
in the same chromosomes are inherited
together
✔ Thomas Hunt Morgan (1866-1945)
 • autosomes
✔ Are chromosomes that are structurally
similar in both male & female
• Sex chromosomes
✔ Chromosomes that determine the sexes

• Sex-linkage genes
✔ Genes located in the sex chromosomes
• Sex-linked traits
✔ The traits expressed by sex-linkage genes
 DNA MUTATIONS

Mutations are any change in the genetic makeup (DNA

sequence) of an organism and can occur naturally or can
be increased by mutagens.

Mutagens Diseases
Types
 TYPES OF MUTATIONS
Mutations can be spontaneous or natural
as a result of errors in DNA replication or
gamete production. Error rate is 1 in
1,000,000
replications.

POINT BLOCK

CHROMOSOMAL ABERRATIONS
 1) Point mutations
•Involves a change to one of the DNA bases that makes up
a gene; change in single nucleotide of DNA
•Also known as a MISSENSE mutation.
•Consequence varies depending on type of change.
Change DNA Change amino acid Change protein
sequence

Three types of point mutation

Change
organism
substitution insertion deletion
 1a. Base Substitution
•Involves one base in the DNA being substituted by another.
•This mutation only affects one codon in the gene.
But
DNA ATA ATT
DNA TA C T T C AAA C C G C G T mRNA UAU UAA
Tyr STOP

•Known as NONSENSE mutation

•Totally different protein made
C is replaced by T in the DNA. •Effect on organism can be dramatic

TA C T T C AAA T C G C G T
Also
DNA AGA AGG
mRNA UCU UCC
Ser Ser
•End result is a different amino acid in protein. •Serine is still added
•Generally minor effect on protein/organism. •Known as a SILENT mutation
 1b. Base Insertion/Deletion
•Involves one base either being inserted or removed from the DNA
sequence.
•Both these mutations affect all codons after the insertion or deletion.
•The earlier the mutation occurs in the sequence the greater the effect.
DNA TA C T T C AAA C C G C G T
Dramatic
Known as effect on
frameshift protein made.
mutations.

TA C T T C AA A A C C G C G TA C T T C AA C C G C G TA
BASE INSERTION INSERTION

Trp Arg
 2) Block mutations
•Involves large scale changes in DNA segments on chromosome.
•Only occur during meiosis, formation of gametes (sex cells).
•Can affect the functioning of many genes
•Severe effect on functioning and characteristics of organism.

Change DNA Change amino acid Change protein

sequence

Four types of block mutation

inversion Change
deletions organism
translocation
duplication
2a. Deletion
 2a. Deletion
•Section of chromosome is lost, anywhere from three bases to
large segments.
•The DNA breaks due to the effect of mutagens.
A B C D E F G H STEP 1

break
genes

A B C D E F G H STEP 2

segment is lost

A D E F G H STEP 3

DNA ligase rejoins chromosome

2b. Translocation
 2b. Translocation
•Section of chromosome breaks and is joined to another chromosome.
•Problem when gametes formed-some receive extra genes, some
deficient.

1 2 3 4 5
STEP 1
A B C D E F G H

break

1 2 3 4 5
STEP 2
D E F G H
segment removed
DNA ligase joins segment

1 2 3 4 5 STEP 3

D E F G H
2c. Duplication
 2c. Duplication
•Segment of one chromosome is added to the homologous chromosome.
•Problem when gametes formed-some have double the genes, some have
no genes.
A B C D E F G H STEP 1

A B C D E F G H

break

A B C D E F G H
STEP 2
D E F G H
segment removed

A B C D E F G H
STEP 3
D E F G H
2d. Inversion
 2d. Inversion
•Section of chromosome falls out and rotates through 180o.
•DNA ligase rejoins section but the genes are in reverse order.
•There is no loss of genetic information.

A B C D E F G H STEP 1

break

segment rotates
180o
STEP 2
A B C D E F G H

segment rejoins
STEP 3
A D C B E F G H
 3) Chromosomal aberrations
•Loss or gain of entire chromosomes- called aneuploidy.
•Main cause is nondisjunction of chromosomes during meiosis.
•Gametes end up with extra chromosome(s) or fewer than 23
chromosomes.

Normal diploid (2N) <23, >23 <23, >23

2 x 23 human cell containing 2
sets of chromosomes. Mainly occurs with sex
chromosomes.

Examples
XO Turner syndrome
23 Through meiosis haploid (N) XX Normal female
gametes are produced, XXX Metafemale
containing only one set of XY Normal male
23
XYY Jacob syndrome
chromosomes.
XXY Klinefelter syndrome
3) Chromosomal aberrations
3) Chromosomal aberrations
3) Chromosomal aberrations

Gemma Ward
Australian Supermodel
3) Chromosomal aberrations
3) Chromosomal aberrations
 Mutagens
•Chemicals or radiation that increase the likelihood of a mutation occurring.
•Rate of mutation induced by mutagen is proportional to the dose of mutagen.
•Mutagens cause a decrease in the stability of the DNA molecule.
•Thus DNA more susceptible to error during replication or meiosis.

•Incorporate into genome

Ionising •Trigger cancers
radiation Viruses &
•Nuclear micro-organisms
•UV rays
•X rays
Types

Alcohol &
Environmental
dietary factors
poisons/irritants
•High fat, alcohol
•Trigger cancers •Benzene, asbestos
•Tobacco tar, formaldehyde
Diseases

Down syndrome
Sickle cell
disease

Cystic fibrosis
 Sickle cell disease
•Haemoglobin is made up of 4 polypeptide chains (2 alpha & 2 beta chains).
•Gene for beta chain is found on chromosome 11 and consists of 438 bases.
•A mutation occurs in the gene coding for the beta chain.
•The mutation is a substitution where adenine replace thymine on the DNA
template strand.
•As a result the amino acid valine replaces glutamic acid.
•This change the properties of the haemoglobin and results in distorted red
blood cells.

HBB gene on This single point mutation has a

chromosome dramatic effect. Individuals have
normal red blood cell
11
many health problems, eg
weakness, jaundice, anaemia,
sickle cell
heart & kidney defects, brain
damage, skin lesions and
inflamed spleen.
 Cystic Fibrosis
•Inherited disorder and occurs when an individual has both copies of the
faulty gene.
•The gene (CFTR) is found on chromosome 7 and normally contains 1480
amino acids.
•A mutation occurs whereby the 508th triplet (AAA) is deleted resulting in a
mutated CFTR protein of 1479 amino acids.
•The abnormal protein is unable to control chloride ion balance in cells. CFTR gene on
chromosome 7
•The build up of chloride ions in cells results in severe effects.
• Individuals have reduced life expectancy, high salt levels, blocked airways,
pancreatic deficiencies and males are infertile. triplet deleted
•Cystic fibrosis is relatively common and occurs 1 in every 2500 individuals.

506th 507th 508th 509th 510th 506th 507th 508th 509th 510th
DNA TAA TAG AAA CCA CAA DNA AAACCA CAA
TAA TAG AAA

mRNA AUU AUC UUU GGU GGU mRNA AUU AUC GGU GGU

amino ile ile phe gly val amino ile ile gly val
acids acids
 •Arise from having 3 copies of
Down Syndrome chromosome 21
•known as trisomy-21.
•Individuals have characteristic facial features, are relatively short,
slowed intellectual and physical development.
•Two main types of Down syndrome-97% non-familial, 3% familial.

Non-familial 24
One of the parent’s sex cells contains
two no. 21 chromosomes, due to
non-disjunction during meiosis.
23 Familial
One of the parents has only 45 chromosomes.
A translocation has occurred where one of
no.15 and one of no. 21 have joined together.
One of the sex cells contain 23 but one of the
23 is the 15/21 chromosome.

15 21 15/21

Parent 1

Parent 2

Down child
3 no.21