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Mutation Powerpoint

This document discusses different types of gene and chromosomal mutations. At the gene level, there are missense, nonsense, insertion, deletion and duplication mutations. Chromosomal mutations include deletion, duplication, inversion, translocation. These mutations can occur during DNA replication due to errors or transposable elements. Mutations provide advantages like survival and diversity but also risks like genetic disorders and diseases. Common genetic disorders from mutations are discussed.

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Erick Berc
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© © All Rights Reserved
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Download as PPTX, PDF, TXT or read online on Scribd
234 views

Mutation Powerpoint

This document discusses different types of gene and chromosomal mutations. At the gene level, there are missense, nonsense, insertion, deletion and duplication mutations. Chromosomal mutations include deletion, duplication, inversion, translocation. These mutations can occur during DNA replication due to errors or transposable elements. Mutations provide advantages like survival and diversity but also risks like genetic disorders and diseases. Common genetic disorders from mutations are discussed.

Uploaded by

Erick Berc
Copyright
© © All Rights Reserved
Available Formats
Download as PPTX, PDF, TXT or read online on Scribd
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Example of Mutation

MUTATED GENE
TYPES
OF GENE
MUTATION
Missense mutation
This type of mutation
is a change in one DNA
base pair that results in
the substitution of one
amino acid for another in
the protein made by a
gene.
Nonsense mutation
A nonsense mutation is
also a change in one DNA
base pair. Instead of
substituting one amino acid
for another, however, the
altered DNA sequence
prematurely signals the cell
to stop building a protein.
Insertion
An insertion cha
nges the number
of DNA bases in a
gene by adding a
piece of DNA.
Deletion
A deletion changes the
number of DNA bases by
removing a piece of DNA.
Small deletions may remove
one or a few base pairs within
a gene, while larger deletions
can remove an entire gene or
several neighboring genes.
Duplication
A duplication con
sists of a piece of
DNA that is
abnormally copied
one or more times.
TYPES
OF
CHROMOSOMAL
MUTATION
Deletion
This type of mutation
occurs when a part of the
DNA is not duplicated or is
lost during DNA replication.
Common disorders due to
deletion mutation in humans
are: Cri du chat, Duchenne
muscular dystrophy, Di
George’s syndrome, etc.
Duplication
This type of mutation
occurs when an extra copy of
a region (or regions) in the
DNA is produced. Common
disorder due to duplication
mutation in humans
is: Charcot-Marie-Tooth
disease type I.
Inversion
During inversion, a portion in
the chromosome is reversed and
gets inserted back into the
chromosome. Basically, two
types of inversion
exist: pericentric
and paracentric. During a
pericentric inversion, the
inversion encompasses
the centromere of the
chromosome.
Inversion
On the other hand, during a
paracentric inversion, it only
involves either the short or long
arm of the chromosome and the
inversion point does not include
the centromere.
Common disorder due to
inversion mutation in humans
is: Amniocentensis during
pregnancy.
Translocation
Translocation happens
when a fragmented
chromosome tends to join
with a nonhomologous
chromosome. Common
disorders due to translocation
mutation in humans are: XX
male syndrome, Down
syndrome, Infertility and
Cancer.
It is mainly because of the
TRANSPOSABLE ELEMENTS. Mutations
occur most mainly during DNA
replication and most likely the DNA
polymerase make mistakes at
predictable rates but most types fix
errors as they occur. Errors that remain
unchanged are mutations. It was
passed through new Generations and
may affect the Child when Mutation are
expressed.
ADVANATAGES
1. Survival
Mutations are very essential for populations
because they help some individuals of the population to
adapt to their environment while they maintain their
survival. They are also an important force
in evolution because they balance out the frequency of
alleles present in the population.

In humans, some successful mutations include malaria


resistance, lactose tolerance, and atherosclerosis
tolerance.
ADVANATAGES
2. Diversity
Mutations in the chromosomes is highly
connected to diversity (not only genetically but also
physically) of living organisms. Ultimately, the close
interactions between inherited mutations and
environmental pressures generate diversity among
species.

Examples: As some chromosomal mutations are


harmless, humans get different color eyes such as
black, brown, grey, green or blue.
ADVANATAGES
DISADVANATAGES
1. Genetic Disorder
Mutations in the chromosome can cause a wide
variety of genetic disorders. While most genetic
disorders are rare, the severity of the error in
even a small portion of the chromosome can be
highly devastating.
2. Other Diseases
Aside from inheritable disorder, certain
mutations in the chromosomes can also bring
about the onset of other diseases like cancer
(i.e. lung, breast, and bladder.).
GENETIC
DISORDERS
CRI DU CHAT
DOWN SYNDROME
EDWARDS SYNDROME
JACOBSEN SYNDROME
KLINEFELTER’S SYNDROME
TURNER’S SYNDROME

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