MUTATION:
CHANGES
IN THE
GENETIC
CODE
LEARNING
COMPETENCY
Explain how mutations may
cause changes in the structure
and function of a protein
(S10LT-llle-38)
OBJECTIVES
A. Explain what mutation is.
B. Discuss the different kinds of DNA mutation.
C. Explain how the different kinds of mutation can
cause changes in the resulting amino acids and the
structure and function of a protein and how
mutation may affect the growth and development of
organisms.
REVIEW
Make the DNA strand into mRNA codons then into tRNA codons and using the
Genetic Code chart, fill in the amino acids for each DNA strand.
UUU AAA Phenylalanine
TCG AGC UCG Serine
UAC AUG Tyrosine
ACC UGG Threonine
READ THE TWO SENTENCES BELOW
THE DOG BIT THE
CAT.
THE DOG BIT THE
What happens when a single letter in the first
CAR.
sentence is changed?
READ AGAIN THE TWO SENTENCES BELOW
THE DOG BIT THE
CAT.
THE DOB ITT HEC
What was deleted? Would the result be the
AT.
same if there would be an addition of a single
base?
MUTANT
S
MUTATION
large category of
mutations that describe a
change in single
nucleotide of DNA, that
causes the DNA to be
different from the normal
type gene sequence
MUTATION
are changes made to an
organism’s genetic
material
changes may be due to
errors in replication,
errors during
transcription, radiation,
viruses and many other
MUTATION
large category of
mutations that describe a
change in single
nucleotide of DNA, that
causes the DNA to be
different from the normal
type gene sequence
MUTATIONS
INSERTION
extra base pair is
added to a
sequence of bases
INSERTION
Beta- Thalassemia
blood disorder
that reduces the
production of
hemoglobin
MUTATIONS
DELETION
extra base pair is
deleted from a
sequence
DELETION
Cystic – Fibrosis
hereditary the body produces
disease that thick and sticky mucus
affects the lungs that can clog the lungs
and digestive and obstruct the
system pancreas
DELETION
Cystic – Fibrosis
MUTATIONS
SUBSTITUTIO
N
bases are swapped
for different ones
POINT MUTATIONS -
SUBSTITUTION
Sickle cell Anemia
GENETIC DISORDERS
caused by an
abnormality in
the genetic make
up of an
indvidual
can be caused by
a chromosomal
abnormality
NORMAL HUMAN KARYOTYPE
Karyotype
an individual's collection of
chromosomes
a normal human have 46
chromosomes or 23 pairs
22 pairs would be
autosomes (body
chromosome) and 1 pair is
allosome (sex chromosome
Female – XX
Male - XY
GENETIC DISORDERS
CRI-DU-CHAT
SYNDROME (CAT’S CRY)
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
GENETIC DISORDERS
CRI-DU-CHAT SYNDROME (CAT’S CRY)
GENETIC DISORDERS
DOWN’S SYNDROME
Trisomy 21
(Trisomy – 3 chromosomes)
chromosomal condition that is
associated with intellectual
disability, a characteristic facial
appearance, and weak muscle
tone (hypotonia) in infancy
GENETIC DISORDERS
DOWN’S SYNDROME
GENETIC DISORDERS
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
GENETIC DISORDERS
EDWARDS SYNDROME
GENETIC DISORDERS
PATAU SYNDROME
Trisomy 13
the extra genetic material
disrupts normal development,
causing multiple and complex
organ defects
GENETIC DISORDERS
PATAU SYNDROME
GENETIC DISORDERS
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)
GENETIC DISORDERS
JACOBSEN SYNDROME
GENETIC DISORDERS
KLINEFELTER
SYNDROME
results from the presence of one
extra copy of the X chromosome
in each cell (47XXY)
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
GENETIC
KLINEFELTER DISORDERS
SYNDROME
GENETIC DISORDERS
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 genetc material
affects development before and
after birth
GENETIC DISORDERS
TURNER SYNDROME
