The document discusses mutations, defining them as changes in the DNA nucleotide sequence that can occur in somatic or gamete cells. It details types of mutations, their causes, and effects including genetic variation and diseases such as cystic fibrosis and prion diseases. Additionally, it addresses the implications of mutations in bacteria and viruses, particularly in relation to antibiotic resistance and disease resistance mechanisms.

1. Team Members:
Abu Sufian
Asif Ibtehaz
Samrin Sultana Tithi
Syeda NoorJaha Azim

2.  A Mutation is a change in nucleotide
sequence of DNA.
 May occur in somatic cells (aren’t passed
to offspring)
 May occur in gametes (eggs & sperm) and
be passed to offspring.
 Mutations are important because they
increase genetic variation.

3.  Spontaneous mutation
- A mutation that arises naturally and not as a
result of exposure to mutagens
 Error prone replication by-pass
- Increasing evidence that the majority of
spontaneously arising mutations are due to error
prone replication
 Errors introduced during DNA repair
- Double-strand breaks occur at a relatively low
frequency in DNA
 Induced mutation
- A mutation is any change in a DNA sequence
that can be passed from parent to offspring

5.  May involve:
- Changing the structure of a
chromosome
- The loss or gain of part of
a chromosome
 Five types exist:
 Deletion
 Inversion
 Translocation
 Nondisjunction
 Duplication

6.  Change in the nucleotide sequence of a
gene
 May only involve a single nucleotide
 May be due to copying errors, chemicals,
viruses, etc.
 Types of Gene Mutations
 Include:
 Point Mutations
 Substitutions
 Insertions
 Deletions
 Frameshift

7.  Spontaneous
 Increases caused by environmental factors
 UV light
 X-rays
 Benzene, formaldehyde, carbon tetrachloride

8. Not all are harmful
Survival advantage
Most common among bacteria and
viruses but also seen in insects
If no selective pressure may remain
in population

9.  Cystic fibrosis and sickle cell anaemia
 Disfunctional proteins
 Albinism – caused by mutation in gene of
enzyme pathway of melanin

10.  Bacteria – antibiotic
resistance through
mutation, transfer
between bacterial species
 Superbugs such as MRSA
have arisen this way
 RNA viruses – such as HIV –
mutates it’s protein coat so
that the host human is
unable to make antibodies
quick enough against it

11.  Neither harmful or beneficial to the organism
but may be important in an evolutionary
sense
 Silent mutations
 Virtually impossible to detect because no
observable effect

12. 1.Prion diseases were caused by
mis-folded proteins.
2.(10-15)% case prion disease are
caused by mutation in PRNP
gene.
3.Familial prion disease-
Creutzfeldt-Jakob disease (CJD),
Gerstmann-Sträussler-Scheinker
syndrome (GSS),fatal familial
insomnia (FFI), & Neuropathology

13.  Human-
-Kuru
-Fatal Familial Insomnia (FFI)
-Creutzfeldt-Jakob disease
(CJD)
Animal-
-Scrapie
-Bovine Spongiform
Encephalopathy (BSE)
-Chronic Wasting Disease
(CWD)

15.  Somatic cell
 No sexual means
 Cloned cells
 Change in DNA sequence
 Causes Tumor
 Causes Cancer
 occur in several neurodevelopmental diseases-
epilepsy, autism spectrum disorders, and intellectual
disability

17.  Lung cancer after 50 pack-years (7,300
cigarettes/year, pack a day)
 Mutation spectra here similar to primary lung
cancers
 Clone of cells that gives rise to cancer
accumulates 1 mutation per 15 cigarettes
 Substantial mutation over the bronchial tree
(cells not cancerous)

18.  Tasty Mutants: The Invention
of the Modern Oyster
 The origin and evolution of
mutations in Acute Myeloid
Leukaemia
 Germ line mutation of human
breast and ovarian cancer
predisposing gene
 Cloning

19. Gene therapy is a technique for correction
defective genes responsible for disease
development.
Possible Cures for :
 diabetes
 cardiovascular disease
 cystic fibrosis
 Alzheimer’s
 Parkinson's

20.  A “Clone” is a copy of something
 In genetics, a clone is a genetic copy of
another organism
 Clones Occur naturally:
-Asexual breeding in plants & lower animals
-Identical twins in higher animals
Dolly - 1996

21.  http://pandawhale.com/post/51287/tasty-
mutants-the-invention-the-modern-oyster-
atlantic-mobile
 http://en.wikipedia.org/wiki/Mutation
 http://learn.genetics.utah.edu/content/variatio
n/mutation/
 http://ghr.nlm.nih.gov/condition/prion-disease
 http://www.federationofscientists.org/pmpanels
/tse/priprogene.asp
 http://global.britannica.com/EBchecked/topic/
553940/somatic-mutation