MUTATION

DEFINITIONS
Is a genetic transformation that occurs in gene and cromosome Some is heritable, and others are not Commonly mutation doesnt give any advantages, because it is lethal and homozygous recessive. Mutagen Mutan

MECHANISMS
DNA
DNA synthesis(replication)

Chromosome
DNA packing inside of chromosome (prophase) Anaphase failure Chromosome retraction by the spindles Cell wall synthesis (cytokinesis)

HOW COULD A MUTATION OCCUR?

It is caused by substances that generates the mutations (mutagen, includes carcinogens) Sun or radioactive radiation A high charged electric energy such as thunderbolt

MUTATION IS BARELY OBSERVED

Caused by (there are many factors) 1. There are a very huge number of genes. 2. The mutating gene is lethal. It often deceases before becoming mature. 3. The mutating gene is recessive, covered by another dominant genes

WHAT WOULD HAPPEN IF OUR GENE IS MUTATING?

A mutant will have an abnormal Phenotype

MUTATION
BASED ON THE TAKEN PLACE/CELL BASED ON THE SOURCE BASED ON THE MUTATING PART

GAMETIC

SOMATIC

NATURAL HUMAN MADE

MUTATIONS MUTATIONS

GENE CHROMOSOME
MUTATIONS MUTATIONS

MUTATIONS MUTATIONS

CHANGE IN THE

CHANGE IN THE

COMPOSITION
OF CHROMOSOME

NUMBER
OF CHROMOSOME

BASED ON THE TAKEN PLACE MUTATION

SOMATIC MUTATION Mutation in somatic cells such as skin cells This mutation is inheritable GAMETIC MUTATION Mutation that happens in gamet cells (reproduction) sperm and ovum This mutation is Heritable

SOMATIC MUTATION

GAMETIC MUTATION

BASED ON THE SOURCE MUTATION

NATURAL
MUTATIONS

FAKED
MUTATIONS

NATURAL MUTATION
It happens spontaneously Natural mutation examples:
Cosmic rays Virus UV radiation Radioactive

NATURAL MUTATION

COSMIC RAY

NATURAL MUTATION

VIRUS

VIRUS

NATURAL MUTATION

UV RADIATION

FAKED MUTATION
Many Factors
Chemical substances (mutagenic, nitrate acid, benzopiren) Physically short wave rays (free radical) Biologically (virus)

Example
Genetic manipulation

HUMAN MADE / FAKED MUTATION

GENE MANIPULATION

BASED ON MUTATING PART

MUTATION
GENE MUTATION CROMOSOME MUTATION
(MUTASI KECIL) (MUTASI BESAR)

GENE MUTATION
Also called point mutation the changes occurs in DNA or gene This mutation happens almost seldom in an ordinary DNA replication If this mutation attacks gamete cells it will be heritable If this mutation creates phenotype changes this will cause a hereditary (heritable disease) such as anemia

SICK ERYTHROCYTES
DNA

mRNA

SICK ERYTHROCYTES

GENE MUTATION IS CAUSED BY

Nitrogen base dislocation (scrambled composition) This will also change the composition of codons which may cause a change of composition in amino acids and the making of polipeptydes too

GENE MUTATION IS CAUSED BY

The changes in nitrogen bases number Also called (frame shift mutation)

GENE MUTATION
SUBSTITUTION DELETION INSERTION

SUBSTITUTIONS
Here occurs changes to Nitrogen bases such as : Transition
G S A purin T primidin

Transversion
G/A purin S/T primidin

An error in protein synthesis

SUBSTITUTIONS

INSERTION & DELETION

Insertion Insert one or more nucleotides inside of a gene Deletion Remove one or more nucleotides inside of a gene

These changes could cause frame shift mutation

INSERTION & DELETION

MUTASI KROMOSOM
Also called an aberration Occurs by changes in structure and number of chromosomes Or changes in gene composition inside of chromosome Derived from meiosis and mitosis changes Phenotype (physic characters, behavior)

MUTASI KROMOSOM
THE CHANGES IN THE CHANGES IN

COMPOSITION
OF THE CHROMOSOMES

NUMBER
OF THE CHROMOSOMES

MUTASI KROMOSOM
CHANGES IN COMPOSITION OF CHROMOSOMES DELETION

When a chromosome fragment is cracked and gone during the cell division

The cracked chromosome fragment in some cases, could bond with homolog chromosome and create a duplicate

DUPLICATION

INVERTION TRANSLOCATING
The cracked fragment could bond with its own chromosome where it came from, but with a reversed position RESIPOK Non-homolog chromosome exchanges fragments NON-RESIPOK Chromosome transfers fragment without receiving another fragment back

CHANGES IN COMPOSITION OF CHROMOSOMES

MUTASI KROMOSOM
THE CHANGES IN NUMBER OF THE CHROMOSOMES

ANEUPLOIDI
The chromosome changes happen to just a device(One of the chromosomes of a one set chromosomes)
The changes in the n of the chromosomes n is the set summary

EUPLOIDI

The changes involve the whole set of the chromosome This causes the number of the chromosome is doubled from its haploid, Monoploid (n) Triploid (3n) Tetraploid (4n)

EUPLOIDI
This abnormality involves the whole chromosomes set And is doubled number than its haploid Such as monoploid (n), triploid (3n), tetraploid (4n) A more than 3 sets usually called polyploid

EUPLOIDI
Monoploid the organism only has a set of chromosome (n) in their somatic cells (body cells) Polyploid this condition is caused by the extra numbers of chromosomes sets polyploid is caused by an error in meiosis division

POLIPLOID
AUTOPOLIPLOID
When a genome (n) has its own changing which is caused by meiosis (cell division) failure The multiples changes in chromosomes come from the same genome species from 2n become 4n on sugarcane and banana trees

ALLOPOLIPLOID
Caused by a marriage between 2 species in which chromosomes number or the structure of those species are different The multiples changes in chromosomes come from the different genome species Normal individuals 2n crossed with 4n results 3n filial

ANEUPLOIDI
Is a variation in the number of chromosome This caused by some additional or reduction to one or a few chromosomes than its normal number This changes only involve a chromosome set This increases the risk of death and lowers the fertility

HOWCOME AN ANEUPLOID HAPPENS?

Anaphase lag, where chromatids didnt stick to the spindles when it begin the anaphase meiosis I Non-disjunction when the homolog chromosome in the anaphase failed to split

KINDS OF ANEUPLOIDI
ANEUPLOIDI
MONOSOMY
(2n-1) Mutation because of it lacks of one chromosome

TRISOMY
(2n+1) Mutation because of it has one excess chromosome

TETRASOMY
(2n+2) Mutation because of it lacks of two excess chromosomes

NULLYSOMY
(2n-2) Mutation because of it lacks of two chromosomes

DOUBLE MONOSOMY
(2n-1-1) there is a couple and each of them lose one chromosome

DOUBLE TRISOMY
(2n+1+1) there is a couple and each of them has one excess chromosome

KINDS OF ANEUPLOIDI

ANEUPLOIDI CAUSES ABNORMALITY

TURNER SYNDROME KLINEFELTER SYNDROME PATAU SYNDROME EDWARDS SYNDROME DOWN SYNDROME JACOBS SYNDROME

TURNER SYNDROME
This syndrome commonly happens on females It causes ovaricular dysgenesis (the ovarium doesnt grow well) Caused by a reduction of an X gonosome chromosomes set Karyotype 22AA+XO 45 chromosomes (44 autosomes, 1X chromosome)

TURNER SYNDROME

TURNER SYNDROME

KLINEFELTER SYNDROME
Caused by a trisomy in the gonosomes It causes the person to suffer testicular difunction Karyotype 22AA +XXY 47 chromosomes (44 autosomes, 3 gonosomes XXY)

KLINEFELTER SYNDROME

KLINEFELTER SYNDROME

PATAU SYNDROME
It has 45 autosomes which is added with a trisomy The trisomy is probably happen on chromosomes 13, 14 or 15 47 chromosomes (45 autosomes, 2 XX or XY gonosomes)

PATAU SYNDROME
Characteristics
1. Small headed 2. Small eyes 3. Deaf with a downward lobes 4. Cleft palate 5. Polydactyl 6. Heart failure 7. Abnormal organs (intestines, kidneys, brains) 8. Died on a year-old average

PATAU SYNDROME

EDWARDS SYNDROME
It has 45 autosomes which is added with a trisomy Caused by a non-disjunction on chromosomes 18 47 chromosomes (45 autosomes, 2 XX or XY gonosomes)

EDWARDS SYNDROME

EDWARDS SYNDROME

DOWN SYNDROME
Caused by chromosomes 21 disorder (trisomy 21) There was a non-disjunction on chromosomes 21 when the ovum was built 47 chromosomes (45 autosomes, 2 XX or XY gonosomes)

DOWN SYNDROME

DOWN SYNDROME

JACOBS SYNDROME
sex chromosomes disorder Jacobs syndrome sufferer has 44 autosomes and 3 sex chromosomes (XXY) Their characteristics - antisocial - violent behavior - low IQ (80-95) -etc

JACOBS SYNDROME
Characteristics
1. Normal body growth 2. Anti-social 3. Violent behavior and aggressive 4. Scary faced 5. Low IQ (80-95)

JACOBS SYNDROME

CREDITS
PRESENTATION AND SCRIPT BY
ALAN BAGUS SYAHPUTRA AMIR WAHYU AL KARIM SATRIO WICAKSONO
For the purpose to

SMA NEGERI 5 SURABAYA

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