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MSA Presentation Template - Mutations

The lecture covers genetic mutations, their classifications, and diagnostic techniques, including cytogenetic and molecular analysis. It explains the types of mutations, such as spontaneous and induced mutations, and their effects on gene structure and function. Additionally, it discusses the applications of PCR in diagnosing genetic diseases and detecting viruses.

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mohamedibrahimmagdy2005
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3 views

MSA Presentation Template - Mutations

The lecture covers genetic mutations, their classifications, and diagnostic techniques, including cytogenetic and molecular analysis. It explains the types of mutations, such as spontaneous and induced mutations, and their effects on gene structure and function. Additionally, it discusses the applications of PCR in diagnosing genetic diseases and detecting viruses.

Uploaded by

mohamedibrahimmagdy2005
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PPTX, PDF, TXT or read online on Scribd
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Lecture 7: Genetic

mutations and
Diagnostic techniques
Dr Samar Samir elkhateeb
Lecturer Biochemistry and Genetics
Faculty of Dentistry –MSA university
[email protected]
LECTURE OUTLINE

• Definition of mutations .
• Classification of mutations.
• Cytogenetic Analysis.
• Molecular Analysis .
• Applications of PCR.
LECTURE ILOs

By the end of the lecture the students will be able


to :
To know the different type of mutations
What could be the impact of theses mutations
how the genes and chromosomes are analyzed
What are the applications of PCR
Introduction

• A mutation is any change in the sequence of DNA.

• Mutations that modify gene are called gene mutations.

• monogenic, or single-gene disorders. This means having a mutation in


one single gene can cause a genetic disease, such as Cystic fibrosis or
Huntington’s disease. On the other end, we have polygenic diseases,
which are diseases influenced by the combined effects of many
genes. Such as Treacher Collins syndrome.
• A chromosomal mutation alters a portion of a
chromosome larger than a single gene.

• A mutation that changes the number of chromosomes


is a ploidy mutation and includes both small changes
such as ± one chromosome or large changes such as
converting a diploid set to a tetraploid set.

• Mutagens increase the rate of mutation by inducing


changes in DNA sequence, directly or indirectly.
Classification of Mutations

By the Origin of By effect on By effect on By aspect of


mutation structure function phenotype affected
• Spontaneous • Small scale • Loss-of-function • Biochemical
Mutation mutations mutations mutations
• Induced affecting one or a • Gain-of-function • Morphological
Mutations few nucleotides mutations mutations
• Large-scale
mutations in
chromosomal
structure
1- By the Origin of mutation

• Spontaneous Mutation: Spontaneous

Mutations are the result of naturally

occurring mutagens in the environment.

• Induced Mutations: Occur as a result of

interaction of DNA with an outside agent or

mutagen.
2- By effect on structure
A- Large-scale mutations B- Small scale mutations
in chromosomal
structure, including: affecting one or a few
• Amplifications nucleotides, including:
• Deletions of large chromosomal regions
Point mutations
• Chromosomal translocations
• Terminal or Interstitial deletions Silent mutations
• Chromosomal inversions Missense mutations
Nonsense mutations

Insertions

Deletions
Small scale mutations affecting one or a
few nucleotides, including:

1- Point Mutation:
• Often caused by chemicals or malfunction of
DNA replication, exchange a single nucleotide
for another.

• Most common is the transition that


exchanges a purine for a purine (A ↔ G) or a
pyrimidine for a pyrimidine, (C ↔ T).

• Less common is a transversion, which


exchanges a purine for a pyrimidine or a
pyrimidine for a purine (C/T ↔ A/G).
A- Small scale mutations
affecting one or a few
nucleotides, Cont.
1- Point Mutation Cont.:
• A point mutation can be reversed by another point mutation, in
which the nucleotide is changed back to its original state
(true reversion)

• Point mutations that occur within the protein


coding region of a gene may be classified into three
kinds, depending upon what the erroneous codon
codes for:
• Silent mutations: which code for the same amino acid.
• Missense mutations: which code for a different amino acid.
• Nonsense mutations: which code for a stop and
cantruncate the protein.
A- Small scale mutations
affecting one or a few
nucleotides, Cont.
2- Insertions
• Add one or more extra nucleotides into the DNA.
• They are usually caused by transposable elements, or errors during replication of
repeating elements.
• Insertions in the coding region of a gene may alter splicing of the mRNA (splice site
mutation), or cause a shift in the reading frame (frameshift), both of which can
significantly alter the gene product.
• Insertions can be reverted by excision of the transposable element.
• 3- Deletions
• Remove one or more nucleotides from the DNA.
• Like insertions, these mutations can alter the reading frame of the gene.
• They are irreversible .
B- Large-scale mutations in
chromosomal structure
1- Amplifications (or gene duplications)
Leading to multiple copies of chromosomal
regions, increasing the dosage of the genes
located within them.
2- Deletions of large chromosomal regions
Leading to loss of the genes within those
regions.
3- Chromosomal translocations
Interchange of genetic parts from
nonhomologous chromosomes.
4- Interstitial deletions An intra-chromosomal
deletion that removes a segment of DNA
from a single chromosome.
B- Large-scale mutations in
chromosomal structure, Cont.
5- Chromosomal inversions
• Reversing the orientation of a
chromosomal segment.
6- Loss of heterozygosity
• loss of one allele, either by a deletion
or recombination event, in an
organism that previously had two
different alleles
3- By effect on function
• Loss-of-function mutations
Are the results of gene product having less or no function.
When the allele has a complete loss of function (null
allele) it is often called an amorphic mutation.
Phenotypes associated with such mutations are most
often recessive.
Exceptions are when the organism is haploid, or when
the reduced dosage of a normal gene product is not
enough for a normal phenotype (this is called
haploinsufficiency).
• Gain-of-function mutations
Change the gene product such that it gains a new and
abnormal function.
• These mutations usually have dominant phenotypes.
Often called a neomorphic mutation.
4- By aspect of phenotype
affected
• Morphological mutations
Usually affect the outward
appearance of an individual.

• Biochemical mutations
Result in lesions stopping the
enzymatic pathway. Often,
morphological mutants are the direct
result of a mutation due to the
enzymatic pathway.
Diagnosis of genetic diseases

Diagnosis of genetic
diseases

1-Cytogenetic
analysis
2-Molecular analysis
( chromosomal
analysis)
1-Cytogenetic analysis
( chromosomal analysis)
• This includes microscopic examination to
investigate chromosome alterations in terms of
structure and number.
Karyotyping:
• Karyotype is a photographic image that shows the
sum of all the chromosome information in an
individual cell.
• Images are arranged so that chromosomes are
lined up in pairs typically beginning with the
autosomes ending with sex chromosomes
• A complete karyotype helps the doctors to
determine if a person has an extra chromosome
or missing chromosome or chromosomes that
have been attached to one another in unusual
ways.
Fluorescence in-situ hybridization
technique:
it is a combination of cytogenetic and
molecular genetics methods, in which
DNA probes are labeled with
molecules such as biotin which can be
linked with antibodies labelled with
fluorophores.
Molecular methods
Polymerase chain reaction (PCR):
• It is a method to amplify selected
region of DNA.
• It can rapidly help in synthesis
millions of copies of DNA specific
sequences.
Cont
Applications
• PCR permits early diagnosis of malignant diseases such
as leukemia and lymphomas, which is currently the
highest-developed in cancer research and is already
being used routinely.
• The high sensitivity of PCR permits virus detection soon
after infection and even before the onset of disease.
Such early detection may give physicians a significant
lead time in treatment eg. HCV virus
• The amount of virus ("viral load") in a patient can also
be quantified by PCR-based DNA quantitation
techniques

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