Cytogenetics:

Chromosome Mutations,
Aberrations & Evolution
 Chromosomes
Prokaryote Eukaryote
Eukaryotic chromosomes
Human karyotype
 Why do we care?
Many diseases and birth defects are a direct
result of missing, broken, or extra
chromosomes.
 Down Syndrome
 Cri du chat Syndrome
 Patau Syndrome
 Mutations at the level of the
homologous pair
 EUPLOIDY: "true" ploidy, meaning two
members of each homologous pair.
 ANEUPLOIDY: "not true" ploidy, meaning
more or fewer members than two of each
homologous pair.
 MONOSOMY - one homolog; partner is missing
 TRISOMY - three homologs
 NULLISOMY- one entire homologous pair is
missing.
 Chromosomal mutations
A mutation is a change in the DNA
 Generally, mutations are considered at the
gene level, but some types of mutations
involve addition, loss, or change of DNA at
the chromosomal level.
 We basically consider two types of change:
Change in chromosome number
Change in chromosome structure
Definition: Autosomes vs. sex chromosomes

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 Change in chromosome number
 Anincorrect number of a particular
chromosome is aneuploidy.
Correct number is euploidy.
Only one chromosome is monosomy.
Three chromosomes is trisomy.
 Plants are more tolerant of aneuploidies
Animals tend not be be, esp. humans.
 Aneuploidies can be autosomal or X/Y
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 Aneuploidies arise from non-disjunction
 Variasi jumlah kromosom : salah satu sumber
keragaman genetik
 Penyebabnya : penambahan atau pengurangan
kromosom-kromosom utuh atau set kromosom
lengkap.

Ada 2 jenis variasi jumlah kromosom :

-euploidi : kelompok individu (tanaman) yang
setiap inti sel somatik memiliki jumlah
kromosom merupakan kelipatan seluruh set
kromosom (genom).
Set kromosom dilambangkan dengan X
 Satu set kromosom (1x) : monoploid
 2X : diploid
 Ploidi yang lebih tinggi :
-triploid (3x), tetraploid (4x), pentaploid (5x), dst
_Aneuploidi : organisme yang kandungan
kromosom dalam inti selnya tidak
merupakan kelipatan dari jumlah kromosom
haploidnya.Ketidak genapan ini disebabkan
oleh adanya penambahan atau kehilangan satu
atau beberapa kromosom pada genomnya.
- Biasanya terbentuk karena adanya
penyimpangan segregasi kromosom dalam
proses meiosis
 Polyploidy and monoploidy
 Polyploidy: multiple sets of chromosomes.
 Monoploidy: one set only.
Haploid means half, not one. If normal is tetraploid
(4), then haploid is diploid!
 Polyploids are common in agricultural crops
Contain larger cells, larger produce, more vigorous
growth. Even numbers of sets are best.
 Triploids are not so good
no pairing during meiosis, so sterile
sterility good: bananas and grass carp
 Plants tolerate polyploidy
Animals don’t.
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 Polyploidy results from
endoreduplication
 Autopolyploids: result from endoreduplication within
one species.
 Allopolyploids: pollen, ova from 2 different species
combine, then endoreduplication occurs. Commercial
wheat is an allohexaploid.
Yellow crocus is an allopolyploid
Stable if meiosis still works

biology.clc.uc.edu/ graphics/taxonomy/plants/s... 15
 Monoploids can be used in plant
breeding
 How to make a plant with the traits you want:
 Cold shock anthers- this stimulates haploid pollen
grains to begin dividing. Forms an embryoid.
embryoid is a small mass of undeveloped tissue
that you can grow in culture.
with monoploids, there is NO masking of recessive
traits as in diploids, so you can see what you’re
getting.
 Convert monoploid to diploid by treating with
colchicine (a microtubule inhibitor)
messes up mitosis, leads to endoreduplication in
some cells; chromosome number doubles from
mono to diploid.
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