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Mutation
Mutation
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.
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
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
homologous
chromosomes
Matching pairs of chromosomes are called homologous
chromosomes.
X and Y chromosomes
X chromosome Y chromosome
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)
• 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
RNA
C=G A=U
Genetic Code and Codon Table