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Dnamutations 100407084258 Phpapp02

This document summarizes DNA and DNA mutations. It defines DNA as a double helical structure containing deoxyribose sugar and four nitrogen bases. Mutations are permanent changes in DNA that can be transmitted through germ cells or cause changes in somatic cells. There are two main types of mutations: point mutations, which involve a single nucleotide change, and frameshift mutations, which involve the insertion, deletion or inversion of nucleotides. Point mutations are further classified as missense, silent, or nonsense mutations depending on their effects on protein production. Frameshift mutations can disrupt the reading frame and typically result in nonfunctional proteins.

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13 views22 pages

Dnamutations 100407084258 Phpapp02

This document summarizes DNA and DNA mutations. It defines DNA as a double helical structure containing deoxyribose sugar and four nitrogen bases. Mutations are permanent changes in DNA that can be transmitted through germ cells or cause changes in somatic cells. There are two main types of mutations: point mutations, which involve a single nucleotide change, and frameshift mutations, which involve the insertion, deletion or inversion of nucleotides. Point mutations are further classified as missense, silent, or nonsense mutations depending on their effects on protein production. Frameshift mutations can disrupt the reading frame and typically result in nonfunctional proteins.

Uploaded by

sarmadfd
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© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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DNA

MUTATIONS

BY
SARA KANWAL
BS-MT 3RD YEAR 6TH
SEMESTER

CONTENTS:

DNA
DNA MUTATION
TYPES
CLASSIFICATION

DNA: (deoxyribo nucleic


acid)
DNA is a DOUBLE HELICAL
structure consist of
DEOXYRIBOSE SUGAR and
FOUR NITROGEN BASES.
Four bases :
Adenine
Guanine
Thiamine
cytosine

DNA MUTATIONS:
Mutation is a permanent change in the
DNA.
Mutations in germ cells are
transmissible.
Mutations in somatic cells are nontransmissible but may contribute to
change( malignant transformation)

TYPES OF MUTATIONS:

POINT MUTATION:

1.
2.
3.

Missense mutation.
Silent mutation.
Non-sense mutation.

FRAME-SHIFT MUTATION:

1.
2.
3.

Insertion
Deletion
inversion

POINT MUTATIONS:
Point mutations are the singlebased mutations. ( a change in
one nucleotide of the sequence)

CLASSIFICATION OF POINT
MUTATION:
Missence
mutation
Silent mutation
Non-sense
mutation

MISSENSE MUTATION:
The new codon causes an
incorrect AMINO ACID to be
inserted into the protein.
This effect on the function of the
protein depend on what is
inserted in place of normal amino
acid.

NON-SENSE MUTATION:
The new codon causes the protein
to prematurely TERMINATE,
producing a product that is
shortened and often does not
function.

SILENT MUTATION:
Silent mutation does not causes
any change
in amino acid.
(Silent mutation codes for same
amino acid)

FRAME-SHIFT MUTATION:

Frame-shift mutation is a change


in the reading frame of DNA.

The loss or gain of 1 or 2


nucleotides causes the affected
codon and all of the codons that
follow to be misread.
This leads to a very different and
often non-functional protein
product.

DELETION:

Mutations that result in MISSING


DNA are called DELETIONS.
Deletions can also cause frameshift mutation

For example:
ORIGINAL:

DELETION:

The fat cat ate


the wee rat

The fat ate the


wee rat

INSERTIONS:
Mutations that result in the
addition of extra DNA are called
insertions.
Insertions can also cause frame
shift mutations, and general
result in a nonfunctional protein.

For example:
ORIGINAL:

INSERTION:

The fat cat ate


the wee rat

The fat cat xlv


ate the wee rat

INVERSIONS:
In an inversion mutation, an entire
section of DNA is reversed.

inversions involve large regions


of a chromosome containing
several genes.

For example:
ORIGINAL:

INVERSION:

The fat cat ate


the wee rat

The fat tar eew


eht eta tac

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