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MUTATION
Name:_______________________________________ Section:__________________
Learning Objective:
1. Distinguish the types of mutations specifically chromosomal mutations.
2. Illustrate some common examples of genetic disorders, and
3. Realize some common impacts of biotechnology in our society
Key Concept:
• Mutations are changes in the chromosome of organism that are inheritable and are
permanent.
• There are different types of mutations that can result to changes in the quantity of genes
or chromosomes, and may or may not affect the phenotype of an organism. They may also
involve a change in the structure of chromosomes or in DNA sequence. Mutations can
happen spontaneously or can be caused by mutagens or mutagenic agents.
• Three types of DNA mutations: base substitution, deletions and insertions.
• Base substitution is the simplest gene-level mutation that involve the swapping of one
nucleotide to another during DNA replication and also called point mutation. When point
mutations occur in DNA sequences the encoding proteins will result either silent, missense or
nonsense. Point mutations can be classified into two: Transition and transversion.
Transition will happen when a purine is substituted with another purine or when a
pyrimidine is substituted with another pyrimidine.
Transversion is when a purine is substituted for another pyrimidine or a pyrimidine
replaces with a purine.
• Silent mutation happens when a base substitution occurs in the third position of the
codon there is a good chance that the product will be a synonymous codon. Thus, there is
no change in the sequence of amino acid encoded by the gene.
• Missense mutation happens when a base substitution will result in the generation of a
codon that specifies a different amino acid and will leads to a different polypeptide
sequence. Either conservative or nonconservative the missense mutation depending on
the type of amino acid substitution.
• Deletion mutation, results when one or more base pairs are lost from DNA. Translational
frame is altered if one or more bases are deleted and will result in a garbled message and
nonfunctional product. When there is a deletion of three or more bases leaves the reading
frame intact. On the other hand, when there is a deletion of one or more codons it will
resulted in a protein missing of one or more amino acids. This may be deleterious or not.
• Insertion mutation happens when there are additional pairs that will lead to frameshift
depending on whether or not multiples of three base pairs are inserted. The combinations
of insertions and deletions will lead to a variety of possible outcomes.
• Some of the common causes of mutations are Errors in DNA Replication, Errors in DNA
Recombination, Chemical Damage to DNA, and Radiation.
• Chromosome mutations are any alterations that occur in the chromosomes that will
typically resulted from errors during nuclear division or from mutagens.
• There are four types of chromosomal mutation: Deletion, Duplication, Inversion and
Translocation.
• Translocation is joining of a fragmented chromosome to a non-homologous chromosome.
The piece of a chromosome detaches from one chromosome and moves to a new location
on another chromosome.
• Deletion a type of chromosomal mutation that results from the breakage of a
chromosome in which the genetic material becomes lost during cell division. The genetic
chromosomal material can break off from anywhere on the chromosome.
• Duplication is produced when extra copies of genes are generated on a chromosome.
• Inversion happens when the chromosome segment is broken and reversed then inserted
back into the chromosome. It is called a pericentric inversion, when the inversion
encompasses the centromere of the chromosome. Paracentric inversion is the inversion of
the long or short arm of the chromosome except the centromere.
• Cri du Chat or "Cat Cry syndrome" is one of the most common examples of deletion in
chromosome and is found in approximately 1 in 20,000 to 50,000 live births in the U.S.
Babies who are diagnosed with Cri du Chat have the following symptoms: a high-pitched
cry, poor muscle tone, a small head size, and low birthweight. Other health problems can
be observable and these include delays in walking, problems with feeding, hyperactivity,
scoliosis, and severe intellectual disability. Other than that, they also have problems with
language, and may express themselves by using a small number of words or sign
language. Most people with this kind of genetic disorder may have a normal lifespan,
unless they are born with other serious organ defects.
Source: https://www.genome.gov/sites/default/files/tg/en/illustration/karyotype.jpg
Figure 2. Karyotype of Human
Guide Questions:
A. Translocation
1. Using colored paper cut two chromosomes. One should have a different color and size
from
the other.
2. Cut one part of each of the chromosomes. Exchange the parts and attached them to
each of the other chromosomes. See illustration below
B. Deletion
C. Inversion
2. This time, cut portion (with 2 colors) of it. Refer to the illustration on the right.
Guide Questions:
1. Do you think the normal genetic content of the chromosome is affected?
2. Which condition results to gain of chromosome material? Loss of
chromosome material?
3. What are some possible effects of these chromosomal mutations?
Reflection:
Given the different areas or fields in column 1, realize some common impacts of
biotechnology in our society. Write your answer in column 2.
Medicine
Food
Environment
Books
Acosta, Herma D., et al. Science – Grade 10 Learner’s Material First Edition. Pasig City: REX
Book Store Inc.,2015.
Bayquen, Aristea V., et al. Exploring Life Through Science Series: The New Grade 10.,
Phoenix Publishing House, Inc. 927 Quezon Avenue, Quezon City., 2015
Websites
“Amniocentesis”., Accessed January,10.2021 https://www.stanfordchildrens.org/en/topic/
default?id=amniocentesis-procedure-92-P07762
Bailey, Regina. (2020, August 28). How Chromosome Mutations Occur. Retrieved
from https://www.thoughtco.com/chromosome-mutation-373448
DiGeorge Syndrome (22q11.2 deletion syndrome). https://www.mayoclinic.org/ diseases-
conditions/digeorge-syndrome/symptoms-causes/syc-20353543
DNA Mutation and Repair. Retrieve from http://www2.csudh.edu/nsturm /CHEMXL153
/DNAMutation Repair.htm
Facts about Down Syndrome., Retrieve from https://www.cdc.gov/ncbddd /birthdefects
/downsyndrome.html/Inversion Mutations: Causes and Effects, Retrieve from https:/
/study.com/academy/lesson/inversion-mutations- causes-effects.html
Overview of chromosomal mutations, types and examples., Retrieve from https://www.
bioexplorer.net/chromosomal-mutations.html/
Images
Figure 1. DNA mutation chart. Retrieved from,
http://www2.csudh.edu/nsturm/CHEMXL153 /DNAMutationRepair.htm
Figure 2. Karyotype of Human Retrieved from
https://www.genome.gov/sites/default/files/tg/e /illustration/karyotype.jpg
Figure 3. Translocation in chromosome, Acosta, Herma D., et al. Science – Grade 10
Learner’s Material First Edition. Pasig City: REX Book Store Inc.,2015.
Figure 4. Deletion in chromosome, Acosta, Herma D., et al. Science – Grade 10
Learner’s Material First Edition. Pasig City: REX Book Store Inc.,2015.
Figure 5. Chromosome, Acosta, Herma D., et al. Science – Grade 10 Learner’s Material First
Edition. Pasig City: REX Book Store Inc.,2015.
Figure 6. Breaking of Information in the chromosome, Acosta, Herma D., et al. Science – Grade
10 Learner’s Material First Edition. Pasig City: REX Book Store Inc.,2015.
Figure 7. Translocation of genetic information, Acosta, Herma D., et al. Science – Grade 10
Learner’s Material First Edition. Pasig City: REX Book Store Inc.,2015.
Activities
Activity 2. Chromie Change, adapted from: Acosta, Herma D., et al. Science – Grade 10 Learner’s
First Edition. Pasig City: REX Book Store Inc.,2015.
What will be the .A.A Sequence? MET – LEU – GLU – PRO – LEU – LEU
A G U C G U C G C C A A G G U C G U A What’s the mRNA sequence:
T C A G C A G C G G T T C C A G C A T Mutated DNA Sequence #2:
What kind of mutation is this? Point Mutation
What will be the .A.A Sequence? MET – TRP – ASN – ARG – CYS – (STOP)
A G U C G U C G C U A A G G U G U A What’s the mRNA sequence:
T C A G C A G C G A T T C C A C A T Mutated DNA Sequence #3:
What kind of mutation is this? Point Mutation
What will be the .A.A Sequence? MET – TRP – ASN – ARG – (STOP)
A G U C G U C G UC A A G G U G U A What’s the mRNA sequence:
T C A T C A G C G A T T C C A C A T Mutated DNA Sequence #4:
What kind of mutation is this? Deletion
What will be the .A.A Sequence? MET – TRY – ASP – PRO – ALA
A G U C G U C C C A A G G U G U A What’s the mRNA sequence:
T C A G C A G G G T T C C A C A T Mutated DNA Sequence #5:
frame .shift