MUTASI

Nama : Asvitri Dwi Utami

NIM : B1J008003
 MUTATION
• Mutation ► event changes the nature of
the gene (the chemical composition of the
gene) or chromosome that causes changes
to living things that are declining?
 The nature of mutations:
• Rarely occurs in normal processes of DNA
replication
• Mutations can not be known before it is due to:
‒ Genes that have mutations not reveal themselves because
the number of individual genes in very large
‒ Gene is lethal
‒ Genes are recessive
• The emergence of free
 Kinds of mutations
• Gene mutations / small • Chromosome mutations /
mutation / mutation point aberration / large
► mutation consists►
* Substitution bases: 1. Changes set / aneuploidy
~ Transition ►changes in the number
~ Transversion: A T (n) it
~ Transversion: G C 2. According to the events
* Changes of nitrogen can be categorized into 2
base pairs ►
a. Autopoliploidi
b. Allopoliploidi
 Aneuploidy
• Haploid / monoploid  A B C
• Diploid  AA BB CC
• Triploid  AAA BBB CCC
• Tetraploid  AAAA BBBB CCCC
 Changes doubling (aneusomi)
• In general, somatic cell has 2n chromosomes.
Because of incorrect doubling of chromosomes
can lead to increased / decreased in number.
• Examples:
– Nullisomi →2n – 2
– Monosomi → 2n – 1
– Trisomic → 2n + 1
– Double trisomic → 2n + 2
 normal nullisomi monosomi trisomy
2n 2n - 2 2n - 1 2n + 1

Aneusomi may occur for several reasons,

including:
–Anaphase lag → chromatid events not attach to the
spindle in the process meosis 1
–Nondisjungsi→events failed separation of
homologous chromosome at anaphase of meiosis
 Human Aneusomi
• Turner Syndrome → (44A + X) = 2n – 1
• Phenotype women, the ovaries do not grow
• Down syndrome → (45A + XX / 45A + XY
• Klinefelter syndrome → A + 44 pairs XXY
male phenotypes. But the testes do not grow
 Chromosome damage
• Deletion of gene → loss of some of the homologous
chromosomes
• Duplication →the addition of some genes on the
chromosomes homologous chromosome doves mate
• Inversion is a rotating group of 360ºgenes in the
chromosome
• Translocation is the process of exchange of genes from
the chromosome to other chromosome are not
homologous
• Katenasi→ end of he chromosome adjacent to each other
to from a circle
The factors that cause mutations
• Spontaneous mutation /
natural → changes by
itself
• Factors:
– Heat, radiation, cosmic
rays, ultraviolet light,
ionizing internal, DNA
errors
• Mutations artificial / →
mutation induction in
human try with a purpose
a. l:
– Radioactive material usage
for diagnosis, therapy, food
preservation
– The use of nuclear
– Radiation tv
– Use of chemical, biological
and physical
 Mutagens
1. Material physics
– Ultraviolet light, high temperatures, X rays, gamma rays,
cosmic rays
2. Chemicals
– Pesticide →DDT
– Nitrous acid →causes deamination of adenine, guanine,
and cytosine
– Amino Hidrosil (NH2OH) is a mutagen in the attack
bakteriofage DNA cytosine and uracil in RNA
– Colchicine
 Mutagens
3. Biological Material
– Virus
– Bacteria