CHROMOSOMES

Etty Widayanti, SSi. MBiotech.

Subbagian Biologi – Bagian Anatomi
Fakultas Kedokteran Universitas YARSI
 Chromosome

Chromo = colored in response to dye

Some = body

Chromosome of Eukaryotes have been the

traditional subject for cytogenetic analysis
because they are large enough to be examined
with light microscope
 10

The chromosomes are always in pairs because one of

them is derived from the male parent and the other from
the female parent

Different species have different numbers and shapes of

chromosomes

Members of the same species have identical sets of

chromosomes
Chromosome
numbers

kangaroo a sedge hawkweed

(6 pairs) (21 pairs) (4 pairs*)

chicken fruit fly human

(18 pairs) (4 pairs) (23 pairs)
Although chromosomes can be seen distinctly only
at the time of cell division, they are present and
active all the time

The chromosomes carry the DNA

DNA controls all the chemical reactions in the cell

DNA also determines the species of organism and

its individual characteristics
Chromosomes and
DNA
DNA

chromosome

protein

double helix

Chromosomes consist of DNA molecules supported by a ‘scaffold’

of proteins. The diagram illustrates such an arrangement but it is
really more complex than this
 14

The DNA in the chromosomes carries the genes

Consequently, the genes are spaced out along the

chromosome

The genes consist of distinct stretches of the DNA

By means of their DNA content, the genes control

the activities of the cell, the type of cell it becomes,
the species of the organism and the individual
characteristics of that organism
 15
Chromosomes and genes

chromosome

genes for hair colour

single gene

genes for tallness

genes for eye colour

The diagram illustrates the relationship between chromosomes and genes but it does not
represent an actual chromosome

The genes for these characteristics are not necessarily on the same chromosome and the
number of genes shown is arbitrary
Chromosomes
and genes A a

B b
Because the chromosomes are in pairs, the
genes they carry are also in pairs C c

Each member of a pair of genes comes from D d

either the male or the female parent just as the E e
chromosomes do
F f
The individual genes of a pair, control the same
characteristic, e.g. B and b could control eye G g
colour; G and g could control hair colour
H h

I I
Chromatids 17

chromatids

Just before cell division, it can be seen that the

chromosomes have replicated; that is each chromosome has
made a copy of itself (including its DNA). These copies and
the originals are now called chromatids
 18
Centromere

The chromatids tend

to separate but are
held together by a
special region called
the centromere

chromatids
Problem:

Measured linearly, the Escherichia coli genome (4.6 Mb) would be 1,000 times longer than the
E. coli cell.

The human genome (3.4 Gb) would be 2.3 m long if stretched linearly.

Solutions:
1. Supercoiling DNA double helix is twisted in space
about its own axis, a process is
controlled by topoisomerases
(enzymes)
(can also occur in a linear DNA
molecule)

2. Looped domains
Eukaryotic chromosome structure

Chromatin complex of DNA and chomosomal proteins

~ twice as much protein as DNA

Two major types of proteins:

1. Histones abundant, basic proteins with a positive charg that

bind to DNA
5 main types: H1, H2A, H2B, H3, H4
~equal in mass to DNA
evolutionarily conserved

2. Non-histones all the other proteins associated with DNA

differ markedly in type and structure
amounts vary widely
>> 100% DNA mass
<< 50% DNA mass
 Packing of DNA into
chromosomes
1. Level 1 Winding of DNA around histones to
create a nucleosome structure.

2. Level 2 Nucleosomes connected by

strands of linker DNA like
beads on a string.

3. Level 3 Packaging of nucleosomes into

30-nm chromatin fiber.

4. Level 4 Formation of looped domains.

Karyotype

• A pictorial display of metaphase chromosomes from a mitotic cell

• Homologous chromosomes- pairs

Cytogenetics = The study of chromosome number, structure,

function, and behavior in relation to gene
inheritance, organization and expression
 Preparing a karyotype

1. Harvested cells are first cultured

2. The cells are then treated with colchicine which arrests the cells in
metaphase, and then treated and stained to observe the chromosomes
3. Chromosomes can be photographed or visualized using a computer,
and then analyzed
4. Chromosomes are identified by size, position of the centromere, and
banding and staining regions
The analysis involves comparing chromosomes for their length, the
placement of centromeres (areas where the two chromatids are joined),
and the location and sizes of G-bands.
Chromosome Banding

 Chromosome banding is developed based on the

presence of heterochromatin and euchromatin.
 Heterochromatin is darkly stained whereas
euchromatin is lightly stained during chromosome
staining.
 A band is defined as that part of a chromosome which
is clearly distinguishable from its adjacent segments
by appearing darker or brighter with one or more
banding techniques.
 There are a few types of chromosome banding:
G-banding, C-banding, Q-banding, R-banding etc.
G-Banding

 G-banding is obtained with Giemsa stain following

digestion of chromosomes with enzyme trypsin.
 Giemsa stain, named after Gustav Giemsa, an early
malariologist, is used for the histopathological
diagnosis of malaria and other parasites. It is a
mixture of methylene blue and eosin. It is specific for
the phosphate groups of DNA and attaches itself to
regions of DNA where there are high amounts of
adenine-thymine bonding.
 It yields a series of lightly and darkly stained bands -
the dark regions tend to be heterochromatic, late-
replicating and AT rich. The light regions tend to be
euchromatic, early-replicating and GC rich .
G-Banding
G-banding of human female metaphase chromosomes
Q-Banding

 Q-banding is a fluorescent pattern obtained using

quinacrine for staining. The pattern of bands is very
similar to that seen in G-banding.
 Quinacrine banding (Q-banding) was the first staining
method used to produce specific banding patterns for
mammalian chromosomes.
 It is especially useful for distinguishing the Y
chromosome.
 This method requires a fluorescence microscope
(quinacrine fluoresces strongly in the ultraviolet) and
is no longer as widely used as G-banding.
Q-Banding
Q-banding of human male metaphase chromosomes
R-Banding

o R-banding is the reverse of G-banding (the R stands

for "reverse").
o The dark regions are euchromatic (guanine-cytosine
rich regions) and the bright regions are
heterochromatic (thymine-adenine rich regions).
o Telomeres are stained well by this procedure.
o Reverse banding (R-banding) requires heat treatment
and reverses the usual white and black pattern that is
seen in G-bands and Q-bands.
 R-Banding
R-banding of human female metaphase chromosomes
C-Banding

C-banding stains the constitutive heterochromatin, which

usually lies near the centromere.

Chromosomes of mouse Chromosomes of human female

Chromosomal Abnormalities

• Chromosomal abnormalities are either numerical or

structural.
• They are a very common cause of early spontaneous
miscarriage.
• Usually, but not always, cause multiple congenital
anomalies and learning difficulties.
• Any change in the normal structure or number of
chromosomes; often results in physical or mental
Chromosomal Abnormalities

 Numerical Aberrations (abnormalities)

 Euploidy: Multiple of the haploid (N)
 Aneuploidy: Abnormal number, trisomy or
monosomy

 Structural abnormalities
 Translocation
 Deletion
 Others