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Puneet Gill

on 30 May 2014

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Transcript of GENE MUTATIONS

Mutation mechanisms...
Spontaneous mutations
Induced mutations
What are mutations?
Future Implications
Types of mutations...
Nada and Puneet
Natural process which changes the cell's DNA sequence
Change can be small (single DNA base) or large (a large part of chromosome)
If DNA is changed, the organism is severely affected, depending on the magnitude of change.
Genetic information which determines the living organism's features (how one looks, behaves, etc. ) and its physiology
Building block of life
What are mutations?
What is DNA?
Causes of mutations...
Spontaneous Mutations
Induced Mutations
Chemical Mutation
Occur during DNA replication
Changes in DNA sequence
Replicated genetic material
caused by mutagens
can replace bases in DNA (base analogs)
can alter a base so that it mispairs with another base (Alkalytors)
or damage the base to the point where it cannot bind with another base

when a living organism is exposed to purposeful circumstances (mutagens) that causes mutation to occur
mutations can be induced radiation, chemical, and transposon insertion

when a living organism is exposed to purposeful circumstances that causes mutation to occur
mutations can be induced by radiation, and chemical mutagens
Ionizing radiation: forms excited molecules

UVA Radition: forms free radicals

UVB Radition: forms cross-links
Affect on genetics
Cystic Fibrosis

Gereditary genetic information
Located in the cell nucleus and mitochondria
Made of 3 parts:
Phosophase backbone
Pentose sugar
Nucleotide base:
adenine (A)
guanine (G)
cytosine (C)
thymine (T).
Human DNA is made of around 3 billion bases
99% of the bases are the same in all people.
Different sequences of DNA codes for the certain traits in humans
All about DNA:
Effects of Mutations:
Cause disease (Cancer)
Developmental delays
Structural abnormalities
Advancement of certain genome
Development of immune system
Deletion: Genetic info deleted
Insertion: Genetic info placed into a different region of the DNA
Translocation: Genetic info exchanged between 2+ non-homologous chromosomes
Connection to Medicine
Missense: Sequence change which changes codon to different amino acid
Nonsense: Change in genetic code which codes for a stop codon, not amino acid
Major Impact
Less serious mutation types...
Gene splicing
Gene Testing
Mutations in animals
Mutations can change genes to transform one body part into another.
In flies, Hox mutations result in sprout legs on their foreheads instead of antennae!

Gene Silencing
Can be beneficial, harmful, or neutral
Any Questions?
Genetic mutations in sodium channel gene (SCN5A)

Mutations cause arrhythmic syndromes, Brugad Syndrome, Unexpected nocturnal death syndrome, Sudden infant death syndrome, etc.
From research, 103 mutations in gene are found; which are harmful for the body
Majority mutations are missense but some are dangerous
Studies find that...
All disorders are allelic and have the same disease with "variable penetrance" worldwide
Drug therapy can be a potential solution
Such mutations may result in life-threatening arrhythmia
Sickle Cell Anemia
Malaria Resistance
HIV Resistance
lactose tolerance

Enhancement in our understanding
In-depth analysis of the advantages/disadvantages of genetic mutation
Relationship of certain diseases with the genetic mutations
Genetic Testing for Hereditary Cancer Syndromes
Most cancer related mutations occur during one's lifetime
Some of these mutations can be inherited from one's parents
Inherited mutations are cause of 5-10% of all cancers
**Genetic mutations associated with 50% of hereditary cancers have been identified
Genetic testing- determine whether one has these mutations by checking family's genetic info
Testing is done by genetic counselor/doctor

don't necessary affect proteins
can cause variation in eye color, skin color, etc.
Connection to Molecular Biology
Protein synthesis
changes the codons
incorrect amino acids will build the
thus wrong proteins will be made
sometimes mutation affects the
start codon (AUG)
this prevents the making of proteins
DNA replication
Alteration of the base by changing the position of H atom, which results in wrong base pairing during replication
: Purine base is remove and apurinic site is formed (AP site)
: Unusual base made from hydrolysis reaction of normal base
Slipped strand misparing
: During replication, new strand is denatured- leads to insertions and deletions
How is this beneficial for you???
How many of us have lost someone to cancer?
My story...
Full transcript