HEREDITY:

INHERITANCE
AND VARIATION
 MUTATION
- The changing of the structure of a gene
- A mutation is a change in the base
sequence of DNA.
- Mutations in body cells affect only the
individual and are not passed on to the
offspring.
WHAT CAUSES OF MUTATION?
EXTERNAL FACTOR
- Chemicals and radiation

Internal factor
- Something goes wrong during DNA eplication in
interphase which is a stage that prepares cells to
divide during mitosis
 Two types OF MUTATION?
GENE MUTATION
-permanent change in the DNA sequence
that makes up a gene

CHROMOSOME MUTATION
- Are made up of DNA and proteins
 DUPLICATION
DELETION
INVERSION
TRANSLOCATION
NON DISJUNCTION
- chromosomes did not
split properly
 TRANSLOCATION
A type of chromosomal abnormality
in which a chromosome breaks and
a portion of it reattaches to a
different chromosomal location.
 DELETION
A type of genetic change that
involves the absence of segment of
DNA. It maybe as small as a single
base but can vary significantly in
size
 INVERSION
A chromosomal defect in which
a segment of the chromosome
breaks of and reattaches in the
reverse direction
◉ Abnormalities in chromosomal
structure may occur during
meiosis.
◉ Changes that affect the structure of
chromosomes can cause problems
with growth, development, and
function of the body’s systems.
◉ Structural changes can occur during the
formation of egg or sperm cells in fetal
development, or in any cell after birth
◉ The effects of structural changes
depend on their size, location and
whether any genetic material is gained
or lost.
What is CRI-DU-CHAT Syndrome?
- Is a genetic condition
- It’s one of the most common
syndrome caused by chromosomal
deletion
- Means “cry of the cat” in French
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What cause CRI-DU-CHAT?
- In most cases, the chromosome
break happens while the parents
sperm or egg cell is still developing.
What are the symptoms
of CRI-DU-CHAT?
- Some symptoms are severe while
others are so minor theymay go
undiagnosed. The cat like cry, which
is the most common symptom,
becomes less noticeable overtime
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 Physical features
- Small chin
- Wide set eyes
- A small head and jaw
- Unusually round face
- Small bridge of nose
- Fold skin over the eyes
- Very short
 How is cri-du-chat
syndrome treated?
 You can help manage symptoms
with physical therapy, language
and motorskill therapy and
educational intervention
 DOWN’S SYNDROME
- Usually caused by an extra copy of
chromosome 21( trisomy 21)
- Charcteristics include decreased muscle
tone, stockier build, asymmetrical skull,
slanting eyes and mild to moderate mental
retardation
EDWARDS SYNDROME
-also known as trisomy 18,
-is a genetic disorder caused by a third copy of all or
part of chromosome
-babies are often born small and have heart defects.
- other features include a small head, small jaw,
clenched fists with overlapping fingers, and severe
intellectual disability
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 HUMAN
KARYOTYPING
 HUMAN KARYOTYPING
Chromosomal material is lost or rearranged
during the
formation of gametes or during cell division of
the early embryo

KARYOTYPE is an image of the full set of

chromosomes of an individual that displays
the normal number, size, and shape.
 HUMAN KARYOTYPING
To produce a karyotype, chromosomes
commonly derived from actively dividing
white blood cells are stained and
photographed.
Karyotypes may reveal the gender of a fetus or
test for certain defects through examination of
cells from uterine fluid – a procedure called
amniocentesis
 GENETIC
ENGINEERING
 GENETIC ENGINEERING
A modern biotechnology called genetic
engineering produces transgenic or GM crops of
organisms.
 When DNA from two different species are
joined together, it is called RECOMBINANT
DNA.
 Genetic engineering has already been applied
to bacteria, plants, and animals.
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