MUTATIONTeam Members:

Abu SufianAsif Ibtehaz

Samrin Sultana TithiSyeda NoorJaha Azim

INTRODUCTION TO MUTATION

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.

CAUSES OF MUTATION 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

TYPES OF MUTATION

CHROMOSOME MUTATIONS 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

GENE MUTATIONS 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 MutationsSubstitutionsInsertionsDeletionsFrameshift

WHAT CAUSES MUTATION Spontaneous Increases caused by environmental

factors UV light X-rays Benzene, formaldehyde, carbon

tetrachloride

THE EFFECT OF MUTATIONS

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

HARMFUL MUTATIONS

Cystic fibrosis and sickle cell anaemia Disfunctional proteins Albinism – caused by mutation in gene

of enzyme pathway of melanin

BENEFICIAL MUTATIONS

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

NEUTRAL MUTATIONS

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

PRION MUTATION

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

PRION DISEASE Human--Kuru

-Fatal Familial Insomnia (FFI)

-Creutzfeldt-Jakob disease (CJD)

Animal--Scrapie

-Bovine Spongiform Encephalopathy (BSE)

-Chronic Wasting Disease (CWD)

CONTINUE….

SOMATIC MUTATION 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

CONTINUE..

SOMATIC MUTATION IN CANCER AND TUMORS

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)

DIFFERENT INVENTION REGARDING MUTATION

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

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

CLONING 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

REFERENCE http://pandawhale.com/post/51287/tasty-m

utants-the-invention-the-modern-oyster-atlantic-mobile

http://en.wikipedia.org/wiki/Mutation http://learn.genetics.utah.edu/content/varia

tion/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

THANK YOU