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Types of Mutations

Mutations are changes in the DNA sequence that can occur in both somatic and gamete cells. Most mutations are neutral but some can be harmful if they alter protein production. We each inherit hundreds of mutations from our parents and acquire around 30 new mutations during our lifetime from environmental factors like UV radiation. Mutations can involve changes to chromosomes like deletions, inversions, duplications, or changes to single genes like point mutations and frameshift mutations. Chromosome disorders include Down syndrome, Patau syndrome, Edward syndrome, and sex chromosome disorders like Klinefelter syndrome and Turner syndrome.

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30 views

Types of Mutations

Mutations are changes in the DNA sequence that can occur in both somatic and gamete cells. Most mutations are neutral but some can be harmful if they alter protein production. We each inherit hundreds of mutations from our parents and acquire around 30 new mutations during our lifetime from environmental factors like UV radiation. Mutations can involve changes to chromosomes like deletions, inversions, duplications, or changes to single genes like point mutations and frameshift mutations. Chromosome disorders include Down syndrome, Patau syndrome, Edward syndrome, and sex chromosome disorders like Klinefelter syndrome and Turner syndrome.

Uploaded by

Ely
Copyright
© © All Rights Reserved
Available Formats
Download as PPT, PDF, TXT or read online on Scribd
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Mutations

What Are Mutations?

• Changes in the
nucleotide sequence of
DNA
• May occur in somatic
cells (aren’t passed to
offspring)
• May occur in gametes
(eggs & sperm) and be
passed to offspring
Are Mutations Helpful or
Harmful?
• Mutations happen
regularly
• Almost all mutations are
neutral
• Chemicals & UV
radiation cause
mutations
• Many mutations are
repaired by enzymes
Are Mutations
common? • As scientists learn to
read the instructions
in our genes, they are
discovering that much
of our DNA is riddled
with errors.
• We each inherit
hundreds of genetic
mutations from our
parents, as they did
from their forebears.
• In addition, the DNA in our
own cells undergoes an
estimated 30 new mutations
during our lifetime, either
through mistakes during
DNA copying or cell division
or, more often, because of
damage from the
environment.
When are Mutations
Harmful? • During copying, bits of
our DNA may be
deleted, inserted,
broken, or substituted.
• Most mutations affect
only the parts of DNA
that do not contain
instructions for
making a gene, so we
need not worry about
them.
• Problems arise only when an
error in DNA alters a message
that tells certain cells to
manufacture a certain protein.
• Such messages are spelled out in
varying sequences of the four
chemical bases that make up
DNA: adenine (A), thymine (T),
guanine (G), and cytosine (C).
Are Mutations Helpful or
Harmful?

• Some type of skin


cancers and leukemia
result from somatic
mutations
• Some mutations may
improve an organism’s
survival (beneficial)
Types of Mutations
Chromosome Mutations

• May Involve:
– Changing the
structure of a
chromosome
– The loss or
gain of part of
a chromosome
Chromosome Mutations

• Five types exist:


– Deletion
– Inversion
– Translocation
– Nondisjunction
– Duplication
Deletion
• Due to breakage
• A piece of a
chromosome is lost
Deletion Disorders
Angelman Syndrome

Prader-Willi Syndrome

Cri-du-chat Syndrome
Angelman Syndrome
Inappropriate
laughter with
convulsions
Poor coordination
Mental retardation
Prader-Willi Syndrome

Extremely floppy
Obesity (constantly
hungry)
Mild mental retardation
Cri-du-chat Syndrome

Infant’s cry similar


to that of a cat
Intellectual disability
Small head size
Weak muscles
Inversion

• Chromosome segment
breaks off
• Segment flips around
backwards
• Segment reattaches
Duplication
• Occurs when a
gene sequence is
repeated
Translocation
• Involves two
chromosomes that
aren’t homologous
• Part of one
chromosome is
transferred to
another chromosomes
Translocation
Nondisjunction
• Failure of
chromosomes to
separate during
meiosis
• Causes gamete to
have too many or
too few
chromosomes
Autosomal Disorders
Down’s Syndrome (Trisomy 21)

Patau’s Syndrome (Trisomy 13)

Edward’s Syndrome (Trisomy 18)


Trisomy:
Gamete has 1
more chromosome than
it should
Result is 47
chromosomes
Ex: Down’s Syndrome
Extra #21 chromosome
Patau’s Syndrome &
Edward’s Syndrome

Cardiac abnormalities
Very severe conditions
Most affected infants die
during first few weeks of
life
Chromosome Mutation
Animation
Gene Mutations
• Change in the
nucleotide sequence
of a gene
• May only involve a
single nucleotide
• May be due to
copying errors,
chemicals, viruses,
etc.
Types of Gene Mutations
• Include:
– Point Mutations
– Substitutions
– Insertions
– Deletions
– Frameshift
Point Mutation

• Change of a single
nucleotide
• Includes the
deletion, insertion, or
substitution of ONE
nucleotide in a gene
Point Mutation
Point Mutation

• Sickle Cell
disease is the
result of one
nucleotide
substitution
• Occurs in the
hemoglobin gene
Frameshift Mutation

• Inserting or deleting
one or more
nucleotides
• Changes the “reading
frame” like changing a
sentence
• Proteins built
incorrectly
Frameshift Mutation
• Original:
– The fat cat ate the wee
rat.
• Frame Shift (“a” added):
– The fat caa tet hew
eer at.
Gene Mutation
Animation
Sex Chromosome Disorders
Klinefelter’s Syndrome

Turner’s Syndrome

Fragile X Syndrome
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
Low incidence
Look normal
Ovarian failure
Normal intelligence
Short stature
Estrogen therapy
Fragile X Syndrome
Most common inherited cause of mental
retardation
1 in 2000 males
High forehead, prominent jaw, autism
Gap in X chromosome

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