2. Introduction
Mutation-
It is a change of the nucleotide sequence of the genome of an
organism, virus, or extra chromosomal genetic element.
Classes of Mutation-
Spontaneous Mutation
These are mainly caused during DNA replication or they can naturally occur by
changes in DNA sequence during replication.
Induced Mutation
These are caused by the changes in DNA brought by some environmental factors
(mutagens).E.g. UV light, X rays, Gamma rays, etc..
Chromosome Mutation may involve due to changing in the structure
of a chromosome or due to loss or gain of part of a chromosome.
4. 1. Chromosomal Mutations
• An abnormal change in
the structure of all or part
of a chromosome, OR in
the number of
chromosomes an
organism has
• Ex: normal humans have
46 chromosomes
• Humans with Down
Syndrome have 47
6. Down syndrome (Trisomy 21)
• Extra 21 chromosome
• Effects 1/700
• Alters child’s
phenotype–
characteristic facial
features, short stature
• Usually some degree of
mental retardation
7. 2. Gene Mutation
• A change that affects a
gene on a chromosome
• Causes the cell to
produce abnormal
proteins
• There are 2 types of
gene mutations:
1. Point Mutation
2. Frame Shift Mutation
8. Point Mutation
• A gene mutation involving only a single nucleotide
• Ex: ACA mutates to read ACT
• mRNA codes ACT to be UGA which is a stop
codon!
• This will cause the necessary protein to not be made
9. Frame Shift Mutation
• This is the insertion or deletion of one or
more nucleotides
• Ex: THE CAT ATE
• In a frame shift mutation it would read
THE ATA TE which is meaningless!
• Which letter was deleted?
• C
10. Genetic Disorders
There are 3 different types of Human
Genetic Disorders
1. Sex-linked Disorders
2. Autosomal Genetic Disorders
3. Chromosomal Genetic Disorders
11. Sex-linked Traits
• A trait that is
controlled by a gene
found on the sex
chromosome
12. Why are Males more likely to
inherit sex-linked genetic disorders?
• On the other hand, men are
more likely to inherit sex-
linked disorders because they
only have one X Chromosome
• They lack the protection of
having 2 X’s as females do.
• Each male child of a mother
who carries the defect has a
50 % risk of inheriting the
faulty gene and the disorder.
• Each female child has a 50%
chance of being a carrier like
her mother.
13. The two sex-linked disorders we
will be discussing are:
1. Color Blindness
2. Hemophilia
14. 1. Color Blindness
• Color blindness is a condition
in which the individual
cannot perceive certain colors
• Found mostly in males
• Females can carry the gene
for color blindness and are
called carriers
• Carriers have the gene for
color blindness on one X
chromosome
15. This is what a strawberry patch would
look like to a color blind person
16. 2. Hemophilia
• Hemophilia is a genetic disorder
that affects the ability of blood to
form an effective clot and thereby
results in prolonged bleeding.
• Occurs almost exclusively in males.
17. What are Autosomal Genetic
Disorders?
• Humans have 23 pairs of chromosomes
• 22 pairs are called Autosomes
• The last pair are called sex chromosomes
because they determine your gender
• Autosomal genetic disorders therefore are
mutations that occur on the first 22 pairs of
autosomes
18. An Example of an Autosomal
Genetic Disorder is:
1.Sickle Cell Anemia
• The genetic defect that causes
sickle cell anemia affects
hemoglobin, a component of red
blood cells.
• What causes this defect is a
mutation when making a certain
amino acid
19. How to Detect Genetic Disorders
During pregnancy
1. Amniocentesis
20. 1. Amniocentesis
• A long needle is inserted
into the amniotic sac of a
pregnant woman to
obtain a sample of
amniotic fluid
• The cells of the fetus that
are contained within the
fluid are then examined
to see if there are any
abnormalities