MUTATIONS

MELC 4:Explain how mutations may cause changes in the structure and function
of a protein (S10LTIIIe-38).

LOVELYN A. RASALAN
Subject Teacher
MUTATIONS
Mutations are changes to a DNA sequence.

Mutagens - agents that cause alteration in the DNA and

can lead to permanent mutations in the DNA sequence
depending on the ability of an organism to repair the
damage.
 Types of Gene Mutations
A. point mutation -
the type of mutation in
DNA or RNA wherein
one single nucleotide
base is deleted, added
or altered.
 Types of Gene Mutations
Substitution
Mutation Types

1) Nonsense mutation
results in the formation of
a stop codon due to the
substitution of one
nitrogenous base.
 Types of Gene Mutations
Substitution
Mutation Types

2) Missense
mutation - one nitrogenous
base of the DNA is replaced
and the result is an altered
codon but does not form a
stop codon.
 Classification of Missense mutation

a. Conservative mutation: When the new amino acid

formed has the same properties of the one that was
supposed to be produced.(substitution valine (Val)
isoleucine (Ile)).
b. Non-conservative: When the new amino acid formed
has different properties of the one that was supposed
to be produced (valine (Val) to glutamine (Gln).
.
 Types of Gene Mutations
Substitution
Mutation Types

3) Silent mutation
happens when a
nitrogenous base is altered
but the same amino acid
is produced.
 Types of Gene Mutations
Frameshift mutation
 Types of Gene Mutations
Frameshift mutation. Frameshift
mutation happens when the normal
sequence of codons is disorganized
by the insertion or deletion of one or
more nitrogenous bases, given that
the number of nitrogenous bases
added or deleted is not a multiple of
three.
Inherited characteristics

What determines the gender of this baby??

What are chromosomes?

Chromosomes are long strands of genetic information

located in the nuclei of cells.
 Homologous chromosomes
In most cells chromosomes are matched in pairs based on
their size and shape.

chromosome from chromosome from

female parent male parent

homologous
chromosomes
Matching pairs of chromosomes are called homologous
chromosomes.
X and Y chromosomes

There are two types of sex chromosome with names

that are very easy to remember!

X chromosome Y chromosome

Females have two X chromosomes,

one from each parent.

XX
Males have one X chromosome
and one Y chromosome.
Which parent does a baby boy
inherit its Y chromosome from?
XY
Mutations & Genetic Disorders
 Chromosomal Mutation:
• Changes in chromosome structure
1) INVERSION:

2) TRANSLOCATION:
 Chromosomal Mutation:
• Changes in chromosome structure
1) INVERSION:when a segment of a
chromosome is reversed end to end

2) TRANSLOCATION:segments
of two chromosomes are exchanged.
3. DELETION

4. DUPLICATION
3. DELETION
• a base is deleted from the
nitrogen base sequence

4. DUPLICATION
• occurs when a part of a
chromosome is copied
(duplicated) too many
times.
5. Insertion-
5. Insertion- the
addition of one or more
nucleotide base pairs
into a DNA sequence.
Monosomy:
• gamete has 1 less
chromosome than it
should
• 45 chromosomes
is the result
• Ex: Turner syndrome
• Missing a sex chromosome
 Trisomy:
• Gamete has 1
more chromosome than it
should
• Result is 47 chromosomes
• Ex: Down’s Syndrome
• Extra #21 chromosome
 Autosomal Disorders
• Down’s Syndrome (Trisomy 21)

• Patau’s Syndrome (Trisomy 13)

• Edward’s Syndrome (Trisomy 18)

 Down’s Syndrome (DS)
• Excess # 21 chromosome
• Prenatal testing can be done
• Result of chromosomal mutation
• 1 in 900 people born with this
• Likelihood of having a child with DS increases
with advancing maternal age
• Symptoms: mental retardation, upward slant
to eyes, small mouth, abnormal ear shape,
decreased muscle tone
• No cure
 Patau’s Syndrome &
Edward’s Syndrome
• Cardiac abnormalities
• Very severe conditions
• Most affected infants die
during first few weeks of
life
Deletion Disorders
 Angelman Syndrome
• Inappropriate
laughter with
convulsions
• Poor coordination
• Mental
retardation
 Prader-Willi Syndrome

• Extremely floppy
• Obesity (constantly
hungry)
• Mild mental
retardation
Sex Chromosome Disorders
 Klinefelter’s Syndrome
• 47, XXY
• 1 in 1000 male live births
• Mild learning difficulties
• Taller than average with long
lower limbs
• Show mild enlargement of
breasts
• Infertile (absence of sperm)
• Treat with testosterone
Turner’s Syndrome
• 45, X
• Look normal
• Ovarian failure
• Normal intelligence
• Short stature
• Estrogen therapy
 Methods of Detection
Chorion villi sampling:
•Take sample of the chorion
–(membrane surrounding
fetus)
•Chemical tests and Karyotyping performed
Ultrasound:
• Sound waves are used to
generate an image of the
unborn child.
• Used to detect abnormalities of limbs, organs,
etc.
Amniocentesis:
• Fluid surrounding the fetus is drawn out by needle
• Fetal cells are collected and grown in a lab.
• Chromosomes can be then Karyotyped
Genetic Engineering
 DNA mRNA tRNA Amino Acid

CAG GUC CAG VALINE

ATG UAC AUG TYROSINE
• DNA
C=G A=T

RNA
C=G A=U
Genetic Code and Codon Table