Mutation

Mutation is a change in the base

sequence of DNA. Mutations
may affect only one gene, or they
may affect whole chromosomes.
when DNA is replicated.
Changes in the DNA
sequence may delete
such protein or change
its structure.
>Mutation may affect only one gene, or they may
affect whole chromosomes. Mutations can result
from errors in DNA replication during cell
division, exposure to mutagens or a viral
infections.
Example of mutation in human are Down
Syndrome, Klinefelters syndrome, Turner
syndrome and others.
Why are mutations harmful to some?
> Gene mutation is a permanent change in the DNA
sequence that makes up a gene. Mutation can occur in
germ-line cells or somatic cells. Germ-line mutations
occur in reproductive cells (sperm or eggs) and are
passed to an organism’s offspring during sexual
reproduction. Somatic mutations occur in non-
reproductive cells, they are passed to daughter cells
during mitosis but not to offspring during sexual
reproduction
Chromosomal mutation occurs at the
chromosome level resulting in gene
deletion,
duplication or rearrangement that may
occur during the cell cycle and meiosis. It
may be caused by parts of chromosomes
breaking off or rejoining incorrectly.
When can a mutation be passed on to
offspring?
Ans. If a mutation occurs in a germ-line cell then, this mutation
can be passed to an organism’s offspring. Every cell in the
developing embryo will carry the mutation.
Do mutations in sex cells only affect offspring?
Ans. Mutations may occur in both somatic and sex cells. Only
mutations that occur in sex cells can be passed from parent to
offspring.
Assess learners’ understanding of the following questions:

How do mutation cause changes in the structure and function of a

protein?
Ans. Mutation that change a portion of a DNA strand can result in
a change in transcription that results in a change in the amino
acid chain that is protein
What might happen if a single base is deleted from a DNA strand?
Ans. If one or two bases are deleted the translational frame is
altered resulting in a garbled (confuse) message &
nonfunctional product. A deletion of one codons results in a
protein missing one or more amino acids.
A chromosomal mutation is a mutation
.
involving a long segment of DNA. These
mutations can involve deletions,
insertions, or translocation of sections or
segments of DNA. In some cases, deleted
portions may attach to other
chromosomes, disrupting both the
chromosomes losing the DNA and one
1. What is chromosomal mutation? How would one define chromosomal mutation?
Ans. A chromosmal mutation is the mutation of the chromosomal segments of the
DNA strand.
2. What are the causes of Chromosomal mutation?
Ans. A chromosomal mutation happens because of a change in chromosome
structures, chromosomal rearrangement, or other chromosomal abnormalities such
as a change in chromosome number or missing chromosome
3. What are the two types of mutation?
Ans. These are the gene mutation and chromosomal mutation.
3. How does gene mutation differ from chromosomal mutation?
 Ans: Gene mutation is a permanent change in the DNA sequence that
makes up a gene while chromosomal mutation occurs at the
chromosome level resulting in gene deletion, duplication or
rearrangement that may occur during the cell cycle and meiosis.
4. What are some genetic disorders in humans?
Ans: Cri du chat, Down’s syndrome, Edward’s
syndrome, Jacobsen syndrome, Klinefelter’s
syndrome
and Turner’s syndrome.
5. It is a genetic disorder due to extra copy of
chromosome 21.
Ans. Down syndrome
Chromosomal mutation is the mutation of the
chromosomal segments of the DNA strands. This
can occur when the number of
chromosomes or chromosome sets (ploidy)
increases or decreases in a genome as well as when
changes in chromosomes structure
occur. Irregularities or accidents when cell division
happens as well as during
chromosomal crossing over or fertilization can all
be causes of chromosomal mutation.
All types of chromosomes can undergo
chromosomal mutation. Chromosomal
mutation examples include
chromosome deletion, duplication, inve
rsion, and translation. These are known
to cause different kinds of genetic and
chromosomal mutation diseases.
For instance, chromosomal mutations on chromosome
4 have been investigated and proven to be the source of
numerous genetic disorders and even cancer in humans.
Gene Mutation is a change in one or more genes.
Some mutations can lead to genetic disorders or
illnesses.
Causes a Gene Mutation
A gene can mutate because of: a change in one or
more nucleotides of DNA a change in many genes
loss of one or more genes rearrangement of genes or
whole chromosomes
. What are the two types of mutation?
Ans. These are the gene mutation and
-chromosomal mutation.
2. How does gene mutation differ from
chromosomal mutation?
Ans: Gene mutation is a permanent change in the
DNA sequence that makes up a gene while
chromosomal mutation occurs at the chromosome
level resulting in gene deletion, duplication or
rearrangement that may occur during the cell cycle
and meiosis.
4. What are some genetic disorders in humans?
Ans: Cri du chat, Down’s syndrome, Edward’s
syndrome, Jacobsen syndrome, Klinefelter’s
syndrome
and Turner’s syndrome.
5. It is a genetic disorder due to extra copy of
chromosome 21.
Ans. Down syndrome
6. A genetic disorder due to trisomy of
chromosome 18.
Types of DNA Mutations and Their Impact

-.
Class of Mutation Type of Mutation Description
Human Disease(s)
Linked to This Mutation
One base is incorrectly
added during replication
and replaces the pair in
Substitution the corresponding Sickle-cell anemia
position on
the complementary stran
d
One or more extra
Point mutation nucleotides are inserted
One form of beta-
Insertion into replicating DNA,
thalassemia
often resulting in a
frameshift
One or more nucleotides
is "skipped" during
Deletion replication or otherwise Cystic fibrosis
excised, often resulting in
 One region of a chromosome
Inversion Opitz-Kaveggia syndrome
is flipped and reinserted

A region of a chromosome is
Deletion lost, resulting in the absence of Cri du chat syndrome
all the genes in that area

Chromosomal mutation A region of a chromosome is

repeated, resulting in an
Duplication Some cancers
increase in dosage from the
genes in that region

A region from one

chromosome is aberrantly
Translocation One form of leukemia
attached to another
chromosome

The number of tandem copies

Copy number variation Gene amplification Some breast cancers
of a locus is increased
 The normal
number of
Expanding Fragile X
repeated
trinucleotide syndrome,
trinucleotide
repeat Huntington's dise
sequences is ase
expanded
When a sperm fertilizes an egg, the union
leads to a baby with 46 chromosomes.
But if meiosis doesn’t happen normally, a
baby may have an extra chromosomes
(trisomy) or have a missing chromosome
(monosomy). These problems can cause
pregnancy loss or they can cause health
problems in a child.
Chromosomes are stick-shaped structures in
the middle of each cell in the body. Each cell
has 46 chromosomes grouped in 23 pairs.
When a chromosome is abnormal, it can
cause health problems in the body.
Abnormal chromosomes most often happen
as a result of an error during cell division.
What are the different chromosomal
abnormalities during meiosis?
Ans. Cri du chat, down’s syndrome,
Edward’s syndrome, Jacobsen
syndrome, Klinefelter’s syndrome,
Turner’s syndrome & Patau
Syndrome
Genetic Disorders occur when a mutation affects the
genes. Carrying the mutation doesn’t always mean
you’ll end up with a disease. There are many types,
including single-gene and chromosomal disorders.
Genetic disorders can be:
Chromosomal- This type affects the structures that
hold your genes/DNA within each cell
(chromosomes). With these conditions, people are
missing or have duplicated chromosome material.
Changes that affect the structure of chromosomes can cause problems with growth,
development, and function of the body’s systems.
> The gain or loss of chromosome material can lead to a variety of genetic disorders.
Cri du chat is caused by the deletion of part of the short arm of chromosome 5.
Down’s syndrome is usually caused by an extra copy of chromosome 21(trisomy)
Edward’s syndrome is a trisomy of chromosome 18.
Jacobsen syndrome is also called 11q deletion disorder.
Klinefelter’s syndrome are usually in men . This condition are usually sterile and tend to
have longer arms and legs.
Patau Syndrome- a trisomy syndrome of number 13
Turner Syndrome is a condition that affects only females, results when one of the X
chromosomes (sex chromosomes) is missing or partially missing. It can cause a variety of
medical and developmental problems, including short height, failure of the ovaries to
develop & heart defects.
 Cri du chat
is caused by deletion part of
the short arm of chromosome
5
-Have wide set-eyes, small
head & jaw, moderately to
severely mentally retarded &
 Down’s
Syndrome
Extra copy of chromosome 21
(trisomy)

Characteristics: Decreased muscle

tone, stockier
stockier build, asymmetrical skull,
slanting eyes & mild to moderate
 Edwards
Syndrome
2nd most common trisomy of chromosome 18.
Mental and motor retardation & numerous
congenital abnormalities causing serious health
problems. About 99% die in infancy., However
those who live past their birthday are quiet
healthy thereafter.
Characteristic: Hand appearance with clenched
hands & overlapping fingers
 Jacobsen
Syndrome is called
terminal 11q disorder. A very rare disorder
Characteristics: normal intelligence or mild
mental retardation, with poor or excessive
language skills. Most have a bleeding disorder
called Paris- Trousseau syndrome.
 Klinefelter’s
Syndrome (XXY)
sterile and longer arms & legs .
Taller than their peers. Often shy &
quiet & higher incidence of speech
delay
 Syndrome
( X instead of XX or XY)
Female sexual characteristics
but underdeveloped. Short
stature, low hairline, abnormal
eye features & bone
development & a caved in
> Chromosome abnormalities often happen due to one
or more of these:
Errors during dividing of sex cells (meiosis)
Errors during dividing of other cells (mitosis)
Exposure to substances that cause birth defects
Some medicines, street drugs, alcohol, tobacco, toxic
chemicals, some viruses and bacteria, some kinds of
radiation and certain health conditions such as
uncontrolled diabetes
Nondisjunction is when chromosomes fail to
separate properly during meiosis (specifically
anaphase). It can occur during meiosis I or meiosis
II. If it occurs during meiosis I, all of the cells will
be affected and if one of the cells is fertilized it will
result in a zygote with too many or too few
chromosomes. If nondisjunction occurs during
meiosis II, half of the cells will be affected and half
will be normal.
DELETION 1.
DUPLICATION 2.
INVERSION 3.

TRANSLOCATION 4.
Answer: Nondisjunction is when chromosomes fail
to separate properly during meiosis (specifically
anaphase). It can occur during meiosis I or
meiosis II. If it occurs during meiosis I, all of the
cells will be affected and if one of the cells is
fertilized it will result in a zygote with too many or
too few chromosomes. If nondisjunction occurs
during meiosis II, half of the cells will be affected
and half will be normal.
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YOU!