2. Genetic Factor that cause variation
GENETIC
MUTATION
SEXUAL
REPRODUCTION
CHROMOSOMAL MUTATION GENE MUTATION
INDEPENDENT
ASSORTMENT
CROSSING
OVER
RANDOM
FERTILISATION
duplication
inversion
translocation
deletion
deletion
insertion
substitution
3. MUTATION
• Mutation: the spontaneous change to the
structure of genes or chromosomes
• Resulting in irreversible & permanent change in
the organism
4. a. Mutation can involve the ENTIRE chromosome
or a SINGLE gene
b. May HELP, HARM, or have LITTLE to no effect
on future generations
o Changes may be SILENT or may cause
phenotypic changes
7. The causes of mutations
1. DNA fails to copy accurately:-
When a cell divides, it makes a copy of its DNA — and
sometimes the copy is not quite perfect. That small
difference from the original DNA sequence is a mutation.
8. High energy ionising radiation
- X-rays, gamma rays, ultraviolet
rays.
Chemical mutagens -
benzene, asbestos, formaldehyde,
pesticide, mustard gas, tar in
tobacco smoke
2. Chemicals / Radiation
These agents cause the DNA to break down.
Mutagens = agents that cause mutation
11. Eg of Diseases Caused by Gene
Mutation
Sickle cell Anemia
Polydactylism
Albinism
12. Colour blindness
Mutant gene (recessive gene)
on the X chromosome.
•Not able to differentiate
colours especially green and
red
•More common in males
because male has only one X
chromosome
13. Albinism
The gene for skin colour is
mutated (recessive gene)
•Unable to produce melanin
(black pigment)
•White hair
•Pink eyes and pinkish skin
•Skin is sensitive to sunlight
14. Albinism is caused by an alteration of the
gene that makes the pigment melanin.
ALBINISM not limited to humans
15. Sickle-cell anemia
Mutation in gene that
produce haemoglobin
•Sickle-cell shaped red blood
cells
•Not efficient in transporting
oxygen
•Yellowing of eyes
16. Haemophilia
Mutation in chromosome X
(for blood clotting)
• Have problem in blood
clotting
• May bleed continuously or
for a longer period
• A woman carrier may pass
the disease to a son
17. DNA
4 nucleotide bases:
A, T, G, C.
(adenine, thymine,
guanine, and cytosine. )
The sequence of these
bases encodes instructions
to make amino acids.
18. Sets of three bases that specify
an amino acid - codon
The amino acid that corresponds
to "GCA" - Alanine
20 different amino acids are
synthesized in humans.
19. Gene Mutations
3 types:
1. Base Substitution
2. Base Deletion
3. Base Insertion
Changes in the structure of DNA
20. 1. Base substitution
one base is replaced by
another.
ATT/CGC/TTA ATG/CGC/TTA
Only affects a single amino acid.
Little effect unless active site of an
enzyme is affected.
Eg. sickle-cell anemia (caused by
a single amino acid substitution)
21. Analogy
3 letter words because codons are 3 letters
The cat ate the rat.
SUBSTITUTION
Thc cat ate the rat.
May have little effect. You still have the idea like a
typo on a test.
The hat ate the rat.
Changes the thought of the sentence.
The effect depends on where the substitution happens
22. Sickle Cell Hemoglobin
GUG CAC CUG ACU CCU GAG GAG AAG
val his leu thr pro glu glu lys
1 2 3 4 5 6 7 8
GUG CAC CUG ACU CCU GUG GAG AAG
val his leu thr pro val glu lys
1 2 3 4 5 6 7 8
Mutation
(in DNA)
Normal mRNA
Normal protein
Mutant mRNA
Mutant protein
Glutamate (glu), a negatively charged amino acid,
is replaced by valine (val), which has no charge.
24. 2. Base Insertion
Base insertion means a single base
is added.
This will affect all subsequent
amino acids in that protein and the
effects are therefore likely to be
severe
ATT/CCT/GTC ATG/TCC/TGT/C
G
25. Normal DNA: CGA – TGC – ATC
Base Insertion
Mutated DNA: CGA – TAG – CAT – C
Alanine – Threonine – stop
Alanine – Isoleucine – Valine
An adenine was inserted
thereby pushing all the
other bases over a frame.
26. Analogy
Insertion
The cat ate the rat.
The cca tat eth era t.
Inserting the c causes a
FRAMESHIFT
THE SENTENCE NO LONGER
MAKES SENSE!! Insertions may have
huge effects.
27. Gene Mutations
Huntington’s Disease is caused by
an insertion mutation.
People with this
disorder have
involuntary movement
and loss of motor
control. They
eventually have
memory loss and
dementia. The
disease is terminal.
Huntington Disease
Located on chromosome 4
First Gene Disease Mapped
28. 3. Base Deletion
Base deletion means a single base
is omitted.
This will affect all subsequent
amino acids in that protein and the
effects are therefore likely to be
severe
ATT/CCT/GTC ATT/CTG/TC
29. Mutated DNA: CGA – TCA- TC
A guanine was deleted,
thereby pushing all the
bases down a frame.
Alanine – Threonine – stop
Alanine – Serine
Base Deletion
Normal DNA: CGA – TGC – ATC
30. Analogy
DELETION
The cat ate the rat.
Thc ata tet her at
FRAMESHIFT
The sentence no longer makes
sense!! Deletions can have huge
effects.
44. 1. Alterations in chromosome number.
Euploid - normal set (2n)
Polyploidy-extra set of the entire genome(3n, 4n etc)
(duplication of the entire set of chromosomes)
Aneuploidy – the number of chromosomes is not
a multiple of the normal haploid number.
(a) Monosomy - one member of a chromosome
pair is missing (2n-1)
(b) Trisomy - one chromosome set consists
of 3 copies of a chromosome
(2n+1)
Chromosomal abnormalities
45. Occasionally, there is an accident
during Meiosis 1 or Meiosis 2 called
nondisjunction:
How Accidents During Meiosis Can
Alter Chromosome Number
– The members of a chromosome pair fail to
separate during anaphase I or II
– Gametes with an incorrect number of
chromosomes are produced
46. Meiosis I
Nondisjunction
n + 1 n + 1 n - 1 n - 1 n + 1 n - 1 n n
Number of chromosomes
Gametes
Nondisjunction
Meiosis II
(a) Nondisjunction in meiosis I (b) Nondisjunction in meiosis II
NONDISJUNCTION IN MEIOSIS I / MEIOSIS II
47. The result of nondisjunction
Figure 8.22
Egg
cell
n (normal)
Zygote
2n + 1
n + 1
Sperm
cell
Upon Fertilisation
48.
49. Down Syndrome: An Extra Chromosome 21
–Is also called trisomy 21
Figure 8.19
57. Turner Syndrome (44 + XO)
Constriction
of aorta
(b) A woman with Turner
syndrome (XO)
Poor breast
development
Web of
skin
Under-developed
ovaries
•Infertile , Short, Mentally retarded
•Has no ovaries, Small breasts
•Folded skin on neck
•No menstrual cycle
59. Environmental Factors That
cause Variation
Climate
Diet
Physical accidents
Temperature
pH
Humidity
Light intensity
Soil fertility
Culture
Lifestyle
PHENOTYPE = GENOTYPE + EFFECTS OF
ENVIRONMENT
60.
61.
62.
63.
64.
65.
66. The Importance of Variation in
the Survival of A Spesies
Provide necessary adaptation to
help a species survive in an ever
changing environment
Can withstand severe weather
Become more resistant to pests
and diseases.
67. Interactions between environmental factors and
genetic factors
Dark & grey moths
– Biston betularia in England
Unpolluted environment, lichen
covered tree trunks
- Dark moths not camouflaged.
More easily detected & eaten
by predators.
Dark moth population
decreased.
- Grey moth population
68. Industrial Revolution
- pollution, soot on trees, lichen
killed
- Dark moths camouflaged. Dark
moth population increased
- Grey moth population
decreased (more obvious to
predator)
1960, Clean Air Act- air quality
improved.
- Dark moth population decreased
because again more obvious to
predator.
- Grey moth population increased.
70. Polyploidy
– The number of chromosomes is increased by one
or more sets.
– More common in plants.
71. Searching for Chromosomal Defects - Amniocentesis and Chorionic
Villus Sampling
Many new
techniques for
learning about
individual genes
rather than whole
chromosomes are
available or under
development.
72. Searching for Chromosome and Gene Defects – Pre-Implantation
Genetic Diagnosis (PGD)
Removing a cell for
diagnosis from a human
embryo.
The diagnosis: trisomy
21 (Down syndrome).
73. loss of a chromosomal segment
extra copy of a chromosomal
segment
order of a chromosome
segment has been reversed
chromosomal segment transferred
from one chromosome
to another
Notas do Editor
High energy ionising radiation.- (Enter body cells and change structures of genes & chromosomes)
Chemical mutagens - (Can damage DNA, causing genetic disorders)
Ask students if they can figure out what is happening in this mutation.
Answer is on the next slide.
A genetic marker linked to Huntington disease was found on chromosome 4 in 1983, making Huntington disease, or HD, the first genetic disease mapped using DNA polymorphisms. HD is inherited as an autosomal dominant disease.
Ask students if they can figure out what is happening in this mutation.
Answer is on the next slide.
When chromosome 7 loses an end piece, the result is Williams syndrome. These children, although unrelated, have the same appearance, health, and behavioral problems. Children with this syndrome look like pixies because they have turned-up noses, wide mouths, a small chin, and large ears. Although their academic skills are poor, they exhibit excellent verbal and musical abilities.
This karyotype shows an individual (male) with Down syndrome having an extra chromosome 21.