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Heredity: Mutations and Genetic Disorders

Mutations are changes in DNA that can be caused by external factors like chemicals or radiation, or internal factors during DNA replication. There are two types of mutations: gene mutations that change the DNA sequence of a gene, and chromosome mutations that involve changes to chromosomes, such as duplications, deletions, inversions, or translocations. Chromosomal abnormalities may occur during meiosis and can cause developmental problems, with effects depending on the size and location of the structural change. Down's syndrome, Edwards syndrome, and Cri-du-chat syndrome are examples of genetic disorders caused by chromosomal abnormalities. Karyotyping allows analysis of an individual's full chromosome set for abnormalities. Genetic engineering uses recombinant DNA techniques to transfer genes between organisms

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17 views30 pages

Heredity: Mutations and Genetic Disorders

Mutations are changes in DNA that can be caused by external factors like chemicals or radiation, or internal factors during DNA replication. There are two types of mutations: gene mutations that change the DNA sequence of a gene, and chromosome mutations that involve changes to chromosomes, such as duplications, deletions, inversions, or translocations. Chromosomal abnormalities may occur during meiosis and can cause developmental problems, with effects depending on the size and location of the structural change. Down's syndrome, Edwards syndrome, and Cri-du-chat syndrome are examples of genetic disorders caused by chromosomal abnormalities. Karyotyping allows analysis of an individual's full chromosome set for abnormalities. Genetic engineering uses recombinant DNA techniques to transfer genes between organisms

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germaineabecia
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© All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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Download as PPTX, PDF, TXT or read online on Scribd

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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