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Mutations Science

The document discusses different types of mutations including chromosome mutations like deletions, inversions, translocations, nondisjunction, and duplications. It also discusses gene mutations like point mutations, substitutions, insertions, deletions, and frameshift mutations. Examples of genetic disorders caused by mutations like Down syndrome, Turner syndrome, and Klinefelter syndrome are provided.

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Ayeisha Reyes
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Download as PDF, TXT or read online on Scribd
26 views

Mutations Science

The document discusses different types of mutations including chromosome mutations like deletions, inversions, translocations, nondisjunction, and duplications. It also discusses gene mutations like point mutations, substitutions, insertions, deletions, and frameshift mutations. Examples of genetic disorders caused by mutations like Down syndrome, Turner syndrome, and Klinefelter syndrome are provided.

Uploaded by

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

Warm Up

If you could have the


powers of one animal,
what would it be and
why?
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 Helpful or
Harmful?

• Some type of skin


cancers and leukemia
result from somatic
mutations
• Some mutations may
improve an organism’s
survival (beneficial)
Quick Review: What is a
chromosome?
A chromosome is a DNA molecule that
is tightly coiled around proteins
called histones, which support its
structure, to form a thread-like
structures.
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
Inversion

• Chromosome segment
breaks off
• Segment flips around
backwards
• Segment reattaches
Duplication
• Occurs when a
gene sequence is
repeated
Translocation
• Involves two
chromosomes that
are NOT homologous
• Part of one
chromosome is
transferred to
another chromosome
Translocation
Nondisjunction
• Failure of chromosomes to
separate during meiosis
• Causes gamete to have too many
or too few chromosomes
• Disorders:
– Down Syndrome – three 21st
chromosomes
– Turner Syndrome – single X chromosome
– Klinefelter’s Syndrome – XXY
chromosomes
Down Syndrome

Down syndrome (DS or DNS), also known


as trisomy 21, is a genetic disorder
caused by the presence of all or part of
a third copy of chromosome 21. It is
typically associated with physical
growth delays, characteristic facial
features and mild to moderate
intellectual disability.
Turner Syndrome
A condition that affects only females,
results when one of the X
chromosomes (sex chromosomes)
is missing or partially missing.
Turner syndrome can cause a
variety of medical and
developmental problems, including
short height, failure of the ovaries to
develop and heart defects.
Klinefelter’s Syndrome
A genetic disorder that affects males.

Klinefelter’s syndrome occurs when a


boy is born with one or more extra
X chromosomes. Most males have
one Y and one X chromosome.
Having extra X chromosomes can
cause a male to have some
physical traits unusual for males
such as weaker muscles, greater
height, poor coordination, less body
hair, and sterility
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

• 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.
Amino Acid Sequence
Changed
Gene Mutation
Animation
Substitution Mutation
A substitution is a mutation that
exchanges one base for another
(i.e., a change in a single
"chemical letter" such as
switching an A to a G)
Insertion Mutation
The addition of one or more
nucleotide base pairs into a DNA
sequence
Deletion Mutation
A part of a chromosome or a
sequence of DNA is lost during
DNA replication.
Any number of nucleotides can be
deleted, from a single base to an
entire piece of chromosome
Normal Male

2n = 46 34
Normal Female

2n = 46
35
Male, Trisomy 21 (Down’s)

2n = 47
36
Female with chromosomal aberrations

2n = 47
37
Klinefelter’s Syndrome

2n = 47
38
Turner’s Syndrome

2n = 45
39

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