Mutation and Its Types

Mutation and its Types
Assignment no 3
Human Genetics
Submitted by: Bilal Imran
Roll no: 071
Department: Medical Laboratory Technology
Semester: 7th
Session: “B”
Submitted to: Ma’am Madiha Akram
Topic: Mutation and its Types
Date of submission= 13-05-2024

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Mutation:
A mutation is a change in the base sequence of DNA that usually results in insertion
of a different amino acid into a protein and the appearance of an altered phenotype.
These variations are called mutations, from the Latin word mutare, meaning “to change.”
Causes of mutation:
 Spontaneous Errors in DNA Replication: DNA replication is a highly accurate

process, but occasional errors can occur. These errors can lead to changes in the DNA
sequence, resulting in mutations.
 Some chemicals, such as nitrous acid and alkylating agents, alter the existing base so
that it forms a hydrogen bond preferentially with the wrong base (e.g., adenine would
no longer pair with thymine but with cytosine).
 Some chemicals, such as benzpyrene, which is found in tobacco smoke, bind to the
existing DNA bases and cause frameshift mutations. These chemicals, which are
frequently carcinogens as well as mutagens, intercalate between the adjacent bases,
thereby distorting and offsetting the DNA sequence.
 X-rays have high energy and can damage DNA in three ways: (a) by breaking the
covalent bonds that hold the ribose phosphate chain together, (b) by producing free
radicals that can attack the bases, and (c) by altering the electrons in the bases and
thus changing their hydrogen bonding.
 Ultraviolet radiation, which has lower energy than X-rays, causes the cross-linking
of the adjacent pyrimidine bases to form dimers. This cross-linking (e.g., of adjacent
thymines to form a thymine dimer) results in inability of the DNA to replicate
properly.
 Certain viruses, such as the bacterial virus Mu (mutator bacteriophage), cause a high
frequency of mutations when their DNA is inserted into the bacterial chromosome.
Since the viral DNA can insert into many different sites, mutations in various genes
can occur. These mutations are either frameshift mutations or deletions.
Types of Mutation:
All mutations fall into two basic categories:
 Gene mutation
 Chromosomal mutation
Gene mutation:
Those that produce changes in a single gene are known as gene mutations. It involves:
1. Point mutation:

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Mutations that involve changes in one or a few nucleotides are known as point
mutations because they occur at a single point in the DNA sequence. They generally occur
during replication. If a gene in one cell is altered, the alteration can be passed on to every cell
that develops from the original one. It involves:
i. Base substitution:
This occurs when one base is inserted in place of another. It takes place at the time of
DNA replication, either because the DNA polymerase makes an error or because mutagen
alter the hydrogen bonding of base being used as a template in such manner that wrong base
is inserted.
It is as follow:
Silent mutations: When a mutation occurs in a protein coding region it may have several
effects. Nucleotide substitutions may lead to no change in the protein sequence.
Missense mutations: When the base substitution results in a codon that simply causes a
different amino acid to be inserted, the mutation is called a missense mutation.
Nonsense mutation: When the base substitution generates a termination codon that stops
protein synthesis prematurely, the mutation is called a nonsense mutation. Nonsense
mutations almost always destroy protein function.
ii. Frameshift mutation:

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This occurs when one or more base pairs are added or deleted, which shifts the
reading frame on the ribosome and results in incorporation of the wrong amino acids
“downstream” from the mutation and in the production of an inactive protein. It is of two
type:
Insertions: Insertions is point mutations in which one base is inserted to the DNA sequence.
Deletion: Deletions is point mutations in which one base is removed from the DNA
sequence.
If a nucleotide is added or deleted, the bases are still read in groups of three, but now
those groupings shift in every codon that follows the mutation.
2. Chromosomal mutations:
Those that produce changes in whole chromosomes are known as chromosomal

mutations. It based on
 Change in structure of chromosome.
 Change in the number of chromosome.
Change in structure of chromosome:
These mutations can change the location of genes on chromosomes. There are four
types of chromosomal mutations:
Deletion: Deletion involves the loss of all or part of a chromosome.
Duplication: Duplication produces an extra copy of all or part of a chromosome.

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Inversion: Inversion reverses the direction of parts of a chromosome.
Translocation : Translocation occurs when part of one chromosome breaks off and attaches
to another.
Change in the number of chromosome:
These mutations can change the number of chromosome. They are:
Euploidy:
o It involves the loss, or gain, of whole chromosome set.

o The term Euploidy (Gr., eu = even or true; ploid = unit) designates genomes
containing chromosomes that are multiples of some basic number (x).
o The number of chromosomes in a basic set is called the monoploid number, x
o Those euploid types whose number of sets is greater than two are called polyploid.
o Thus, 1x is monoploid, 2x is diploid; and the polyploid types are 3x (triploid), 4x
(tetraploid), 5x (pentaploid), 6x (hexaploid) and so on.
o Mutation due to Euploidy refers to the state of having a chromosome number that is
an exact multiple of a basic chromosome set. This means the number of chromosome
sets is increased in Euploidy.

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Polyploidy:
Addition of one or more sets of chromosomes. They may be further:
Autopolyploidy: It occurs when organisms have more than two sets of chromosomes from
the same species.
Allopolyploidy: An allopolyploid is an individual having two or more complete sets of

chromosomes derived from different species.
Aneuploidy:
It involves the loss, or gain, of a part of the chromosome set. Various types of aneuploidy
can be identified as: nullisomy, monosomy, and trisomy.
References:
 https://www.etsu.edu/uschool/faculty/tadlockd/documents/
bio_mutations_show_2019.pdf
 file:///C:/Users/CC256/Downloads/1589181737.pdf
 https://www.google.com/search?
q=nonsense+and+missense+mutation&hl=en&sxsrf=APwXEdd6JD0fD3rA1VKK50
Kil8ogV4pRqQ:1686495359188&source=lnms&tbm=isch&sa=X&ved=2ahUKEwjC

6
vLLmvLv_AhW7gf0HHb1dAe8Q_AUoAXoECAIQAw&biw=1024&bih=625&dpr=
1#imgrc=Y-zUKlC2zq8o3M
 https://www.google.com/search?
q=deletion+and+insertion+mutation&tbm=isch&ved=2ahUKEwicuoX8vLv_AhWCp
kwKHZyTCNoQ2-
cCegQIABAA&oq=deletion+and+insertion+mut&gs_lcp=CgNpbWcQARgAMgUIA
BCABDIGCAAQBRAeMgYIABAIEB4yBwgAEBgQgAQ6BAgjECc6BggAEAcQH
joECAAQHlDlAlieEmCwGGgAcAB4AIABtwKIAeQLkgEFMi0zLjKYAQCgAQG
qAQtnd3Mtd2l6LWltZ8ABAQ&sclient=img&ei=rOCFZJy0I4LNsgKcp6LQDQ&bi
h=625&biw=1024&hl=en#imgrc=Vp2TvqPYh8_gNM
 Review of microbiology & immunology.pdf

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Mutation and its Types

Submitted by: Bilal Imran

Roll no: 071

Department: Medical Laboratory Technology

Submitted to: Ma’am Madiha Akram

Topic: Mutation and its Types

Date of submission= 13-05-2024

 Spontaneous Errors in DNA Replication: DNA replication is a highly accurate

All mutations fall into two basic categories:

Date of submission= 13-05-2024

ii. Frameshift mutation:

Date of submission= 13-05-2024

Those that produce changes in whole chromosomes are known as chromosomal

 Change in structure of chromosome.

 Change in the number of chromosome.

Change in structure of chromosome:

Deletion: Deletion involves the loss of all or part of a chromosome.

Duplication: Duplication produces an extra copy of all or part of a chromosome.

Date of submission= 13-05-2024

Inversion: Inversion reverses the direction of parts of a chromosome.

Change in the number of chromosome:

These mutations can change the number of chromosome. They are:

o It involves the loss, or gain, of whole chromosome set.

Date of submission= 13-05-2024

Addition of one or more sets of chromosomes. They may be further:

Allopolyploidy: An allopolyploid is an individual having two or more complete sets of

Date of submission= 13-05-2024

Date of submission= 13-05-2024

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