MUTATION:
CHANGES IN THE
GENETIC CODE
Presented by: Group 2
TOPICS
Mutation
- Chromosome Mutation
- Gene Mutation
Genetic Disorders
Human Karyotyping
Genetic Engineering
WHAT IS MUTATION
Mutation, in its most basic definition, is a
change in the DNA sequence of a gene. It can
occur either in somatic cells, which form the
body of an organism, or in germ cells,
responsible for producing the next generation.
Mutations can occur in two
different types of cells:
reproductive cells and body cells. Only
mutations in sex cells pass on to offspring.
Mutations affect the reproductive cells of an
organism by changing the sequence of
nucleotides within a gene in a sperm or an
egg cell. If these cells are fertilized, then the
mutated gene becomes a part of the
genetic makeup of the offspring
MUTATION
• Individuals showing these changes are known as
mutants
• An individual showing an altered phenotype due
to mutation are known as variant
• Factor or agents causing mutation are known as
mutagens.
• Mutation which causes changes in base sequence
of a gene are known as gene mutation or point
mutation
THERE ARE TWO TYPES OF
MUTATIONS THAT CAN
OCCUR IN GAMETE CELLS:
Chromosome Mutation
Gene Mutation
CHROMOSOME
MUTATION
-Changing the Five types exist:
structure of a • Deletion
chromosome • Inversion
-The loss or gain • Translocation
of part of a • Nondisjunction
chromosome • Duplication
DELETION
• Due to breakage
• A piece of a
chromosome is lost
INVERSION
• Chromosome
segment
• breaks off
• Segment flips around
backwards
• Segment reattaches
TRANSLOCATION
• Involves two
chromosomes that
aren't homologous Part
of one chromosome is
transferred to another
chromosomes
NONDISJUNCTION
• Failure of chromosomes to
separate during meiosis
• Causes gamete to have too
many or too few
chromosomes
DUPLICATION
• Occurs when a gene
sequence is repeated
CHROMOSOME
MUTATION
ABNIMATION
GENE MUTATION
• Change in the nucleotide Types of Gene
sequence of a gene Mutation:
• May only involve a single -Point Mutations
nucleotide • Substitutions
• May be due to copying - Frameshift Mutation
errors, chemicals, viruses, • Insertions
etc. •Deletions
POINT MUTATION
• Change of a single • Sickle Cell disease
nucleotide is the result of one
• Includes the deletion, nucleotide substitution
insertion, or • Occurs in the
substitution of ONE hemoglobin gene
nucleotide in a gene
FRAMESHIFT MUTATION
• Inserting or deleting Original:
one or more nucleotides -The fat cat ate the
• Changes the "reading wee rat.
frame" like changing a Frame Shift ("a"
sentence added):
• Proteins built The fat caa tet hew ee
incorrectly at.
GENETIC DISORDERS
•Caused by an abnormality in the genetic
makeup of an individual.
•Can be caused by a chromosomal
abnormality
GENETIC DISORDERS
•Caused by an abnormality in the genetic
makeup of an individual.
•Can be caused by a chromosomal
abnormality
CRI-DU-CHAT SYNDROME
also known as 5p- (5p minus)
syndrome, is a chromosomal
condition that results when a piece of
chromosome 5 is missing Affected
individuals have distinctive facial
features, including widely set eyes
(hypertelorism), low-set ears, a small
jaw, and a rounded face. Subscribe
DOWN'S SYNDROME
Trisomy 21 chromosomal condition
that is associated with intellectual
disability, a characteristic facial
appearance, and weak muscle tone
(hypotonia) in infancy.
EDWARDS SYNDROME
Trisomy 18 chromosomal condition
associated with abnormalities in
many parts of the body. Individuals
with trisomy 18 often have slow growth
before birth (intrauterine growth
retardation) and a low birth weight.
BHS School Learni Media DSuticribe
PATAU SYNDROME
Trisomy 13 The extra genetic material
disrupts normal development, causing
multiple and complex organ defects.
JACOBSEN SYNDROME
a condition caused by a loss of
genetic material from chromosome 11.
affected individuals have delayed
development, including the
development of speech and motor
skills (such as sitting, standing, and
walking).
KLINEFELTER SYNDROME
results from the presence of one extra
copy of the X chromosome in each
cell (47,XXY). Extra copies of genes on
the X chromosome interfere with male
sexual development, often preventing
the testes from functioning normally
and reducing the levels of
testosterone.
TURNER SYNDROME
results when one normal X
chromosome is present in a female's
cells and the other sex chromosome is
missing or structurally altered. The
missing genetic material affects
development before and after birth.
HUMAN KARYOTYPING
- a karotype is an image of the full set of
chromosomes of an individual that shows the
normal number, size and shape.
- may reveal the gender of a fetus or test for
certain defects through examination of cells
from uterine fluid (called amniocentesis ).
AMNIOCENTESIS
- it is a procedure
in which amniotic
fluid is removed
from the uterus for
testing or
treatment.
UNDERSTANDING GENETIC
ENGINEERING
1. Fundamentals
• Genetic engineering involves precise manipulation of an
organism's DNA.
• Facilitates the insertion of foreign genes into an organism,
creating recombinant DNA.
2. Process Overview
• Isolation of a plasmid from a bacterium.
• Insertion of a gene from another organism into the plasmid, forming
recombinant DNA.
• Expression of the new gene, leading to the production of desired proteins.
GENETIC ENGINEERING IN
ACTION
1. Real-world Applications
• Medical: Gene therapy, vaccine development,
DNA fingerprinting.
• Agricultural: Production of genetically modified
crops with enhanced t
raits.
2. Addressing Concerns
• Ecosystem Impact: Potential effects on the environment and
biodiversity.
• Ethical Considerations: Debate over the ethical implications of genetic
manipulation.
A WARM
THANK YOU
TO ALL OF YOU!
