CHROMOSOME

AND
CYTOGENETICS
CHROMOSOME
• Coming from the Greek words “chroma” and “soma” which
mean “color” and “body” respectively, a chromosome is a
coiled thread-like structure that contains the genetic material
of organisms. A chromosome is the condensed form of a
chromatin, which in turn is made up of the DNA
and protein histones.
• In humans, the chromosomes for every cell in the body have
identical pairs, except for the sex chromosomes X and Y.
• The X chromosome is the relatively larger chromosome and
also has more genes in it, making the genes more dominant.
On the other hand, the Y chromosome is responsible for
exhibiting “maleness” and manifesting male sexual traits.
CHROMATID
• By definition, a chromatid is one of the two identical components
that make up a duplicated chromosome. As such, the chromosome
is said to be compose of the identical sister chromatids.
• Chromatids (sister) are formed after the chromatin condenses
during metaphase. These structures are then joined together in the
central region by a structure called the centromere. Shortly after,
these sister chromatids will separate during the anaphase as they
move to the opposite poles of the cell.
• It is important to note that chromatids cannot be considered as
“sister” unless they are held together by the centromere.
• During the onset of cell division, the aim is to form cells that are
capable of both function and reproduction; the chromatid is the
structure that ensures that this process occurs correctly.
CHROMOSOME VS
CHROMATID
 IMPORTANT TERMS
1. Chromatin- the form taken by chromosomes when an
eukaryotic cell is not dividing
2. Monad chromosome- unreplicated chromosome (single
chromosome)
3. Dyad chromosome- replicated chromosome (double
chromosome)
4. Chromatid- half of the dyad chromosome
5. Centromere- structure by which chromatids of a dyad
chromosome are held together
6. Telomere- the end of a chromosome, which consists of
repeated sequence of DNA
7. Kinetochore- the point at which the microtubules of the
spindle attach to the centromere of a chromosome during
nuclear division.
• All somatic cells derives from members of the
same species contain an identical number of
chromosomes, in diploid number (2n).
• Nearly all of the chromosomes exist in pairs,
except for sex chromosomes in male.
• The members of each pair are called homologous
chromosomes.
• The haploid number (n) of chromosomes is one
half of the diploid number.
• Collectively, the total set of genes and all
accompanying DNA sequences contained in a
haploid set of chromosomes constitutes the
genome of the species.
• Homologous pairs of chromosomes have identical gene
sites along their lengths, each called a locus (pl. loci).
• Thus, homologous pairs shares the same size, centromere
placement, and gene loci.
• One member of each pair is derived from the maternal
parent, and one is derived from the paternal parent.
• Therefore, each diploid organism contains 2 copies of each
gene as a consequence of biparental inheritance.
• The members of each pair of genes (alleles), while
influencing the same characteristic or trait, need not be
identical.
• Mitosis and meiosis are mechanisms by which cells
distribute genetic information contained in their
chromosomes to their descendants in a precise, orderly
fashion.
All of our One copy of
cells (except each
mature chromosome
gametes) is maternal,
have 2 copies and the other
of each copy is
chromosome. paternal.
BACKGROUND
TERMINOLOGY…
Haploid vs. Diploid
Haploid: A set of chromosomes containing only one
member of each chromosome pair. The sperm and
egg are haploid and in humans, have 23
chromosomes.
Diploid: The number of chromosomes in most cells
of the body. This number is 46 in humans. It is
naturally twice the haploid number of 23
chromosomes contained in human eggs (ova) and
sperm.
In humans, only gametes are haploid.
All other human cells are diploid: somatic cells
 HAPLOID OR DIPLOID:
WHY DOES IT MATTER?
Remember, only gametes are haploid. And there is a very
important reason why…
The new organism will form from the zygote. The zygote
needs 2 copies of each chromosome, and NO MORE.
1 copy of mom’s DNA and 1 copy of dad’s
More than 2 copies of ANY chromosome is BAD NEWS! (e.g.:
trisomy 21)
MEIOSIS PREVIEW
IMPORTANCE OF MEIOSIS
Meiosis keeps the number of chromosomes constant
generation after generation.
Without meiosis, the number of chromosomes
would continue to increase each generation.
Each generation: 1 sperm (23 chromosomes) + 1
egg (23 chromosomes) = 1 zygote (46
chromosomes)
The new zygote grows by mitosis. Each new cell has
46 chromosomes.
BUT WAIT…
IT’S NOT THAT SIMPLE!
46!!
You don’t
get “mom’s
chromosom
e
#8” or
“dad’s
chromosom
e
#8”
You get a mix
of the 2!
THAT “MIX” IS ACCOMPLISHED BY
GENETIC RECOMBINATION.
3 methods of genetic recombination:

– 1. crossing over
– 2. independent assortment
– 3. random fertilization
EVENTS THAT OCCUR DURING PROPHASE I OF MEIOSIS
GENETICS TERM
■ Synapsis- Pairing of two homologous chromosomes that occurs during
meiosis. Synapsis takes place during prophase I. When homologous
chromosomes synapse, they come closer together until they are
connected by a protein complex called the synaptonemal complex.
■ Synaptonemal complex- It is a protein complex formed between the
homologous chromosomes, which contains central and lateral elements
■ Bivalents- A pair of homologous, synapsed chromosomes associated
together during meiosis.

■ Chiasma- The connection that results from crossing over

Synaptonemal complex
Occurred during stage of zygotena in prophase I meiosis
It may serve to regulate the process of crossing over
METHODS OF GENETIC RECOMBINATION:
1. CROSSING OVER
Homologous
chromosomes
align.
Chiasmata represent points
where earlier (and unseen)
nonsister chromatids had
swapped sections.
The process is called
crossing over.
It is reciprocal; the segments
exchanged by each nonsister
chromatid are identical (but
may carry different alleles).
Each chromatid contains a single
molecule of DNA.
So the problem of crossing over is
really a problem of swapping portions
of adjacent DNA molecules.
It must be done with great precision
so that neither chromatid gains or
loses any genes.
In fact, crossing over has to be
sufficiently precise that not a single
nucleotide is lost or added at the
crossover point if it occurs within a
gene.
Otherwise a frameshift would result
and the resulting gene would produce
a defective product or, more likely, no
product at all.
METHODS OF GENETIC RECOMBINATION:
2. INDEPENDENT ASSORTMENT

1
2
3

Independent assortment is the process of random segregation

❑

and assortment of chromosomes during gametogenesis to

produce genetically unique gametes.
❑It occurs during meiosis I in eukaryotic organisms, specifically
anaphase I of meiosis to produce a gamete with a mixture of the
organism's maternal and paternal chromosomes
Methods of genetic recombination:
3. RANDOM FERTILIZATION
The random nature of fertilization adds to the genetic variation arising
from meiosis.
Each male and female gamete represents one of about 8.4 million (223)
possible chromosome combinations due to independent assortments
Any 2 parents will produce a zygote with over 70 trillion (223 x 223) diploid
combinations

2005-2006
3. RANDOM FERTILIZATION

By reducing the number of chromosomes from 2n to n, the

stage is set for the union of two genomes. If the parents differ
genetically, new combinations of genes can occur in their
offspring.
Taking these three mechanisms together, it is safe to conclude
that no two human beings have ever shared an identical
genome unless they had an identical sibling; that is a sibling
produced from the same fertilized egg.
The behavior of chromosomes during meiosis (2n → n) and
fertilization (n + n → 2n) provide the structural basis for
Mendel's rules of inheritance.
CYTOGENETICS
• Area of biology concerned with chromosomes and
their implications in genetics.
• The initial discovery of chromosome behaviour during
mitosis, meiosis and fertilization, late in the 19th
century was a critical event in the history of genetics.
• Geneticists study chromosome number and structure
by staining dividing cells with certain dyes and then
examining them with a microscope. The earliest such
studies used light microscope.
• The important role of this observation played in the
rediscovery and acceptance of Mendelian principles.
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• The light microscope continues to be useful in
the investigation of chromosome structure and
abnormalities and is instrumental in preparing
karyotypes.
• Karyotype: The chromosome constitution of a
cell or an individual; chromosomes arranged in
order of length and according to position of
centromere; also, the abbreviated formula for the
chromosome constitution, such as 47, XX + 21
for human trisomy-21 (Down syndrome).

30
• Cytogenetic analysis usually focuses on chromosomes in dividing
cells such as animal embryos and plant root tips.
• At mitotic metaphase, each of the chromosomes can be recognized
by its size, shape and banding pattern under the microscope.
• For cytological analysis, well stained metaphase spreads are
photographed, and then each of the chromosome images is cut out,
matched with its partner and arranged from largest to smallest on a
karyotype chart.
• The banding techniques (using dyes; quinacrine or Giemsa) helps in
distinguish each arm of a chromosome.
• The length of the arms is determined by the position of the
centromere.
• A skilled researcher can use a karyotype to identify abnormalities in
chromosome number and structure.

• VIDEO

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PREPARATION OF CELLS FOR CYTOLOGICAL
ANALYSIS32
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 KARYOTYPE

Karyotype:The characterization of the chromosomal

complement of an individual or a species,
including number, form, and size of the
chromosomes.
- A photomicrograph of chromosomes arranged
according to a standard classification.
- The complete set of chromosomes that constitutes the
entire genome of a species.
- The light microscope continues to be useful in the
investigation of chromosome structure and
abnormalities and is instrumental in preparing
karyotypes.
 KARYOTYPE
• A karyotype is a man-made arrangement of all the chromosomes of
a cell.
• the chromosomes are arranged and displayed (often on a photo) in
a standard format known as an idiogram: in pairs, ordered by size
and position of centromere for chromosomes of the same size.
• karyotypes are used to study chromosomal aberrations, and may be
used to determine other macroscopically visible aspects of an
individual's genotype, such as sex.
• in order to be able to see the chromosomes and determine their size
and internal pattern, they are chemically stained (chromosome
banding).
• the study of whole sets of chromosomes is known as karyology.
 IN DIPLOID ORGANISMS,
CHROMOSOMES EXIST IN
HOMOLOGOUS PAIRS.

• Chromosomes can be visualized during mitosis.

• Each chromosomes contains constricted region called
centromere.
• Extending from either side of the centromere are the arms
of the chromosome.
• Chromosomes are classified as metacentric,
submetacentric, acrocentric or telocentric on the basis
of the centromere location.
• Shorter arm, above the centromere are called p arm.
• Longer arm, below the centromere are called q arm.
 CHROMOSOMAL FEATURES

Chromosome
 MAKING KARYOTYPE
- karyotypes are arranged with the short arm of the
chromosome on top, and the long arm on the bottom.
They are labelled as p (for petite, or short) and q (for
queue, or long) respectively.
- chromosomes are arranged and numbered by size, from
largest to smallest.
- use centromere position and banding pattern (if there is)
as guides.
p

q
40
 CENTROMERE POSITION
• each chromosome has two arms, labeled p and q . They
can be connected in either metacentric, submetacentric,
acrocentric or telocentric manner.
• if both arms are equal in length, the chromosome is said to
be metacentric.
• if arms' lengths are unequal, the chromosome is said to be
submetacentric.
• if p arm is so short that is hard to observe, but still present,
then the chromosome is acrocentric. There are five
acrocentric chromosomes in the human genome: 13, 14,
15, 21 and 22.
• a telocentric chromosome's centromere is located at the
terminal end of the chromosome. Humans do not possess
any telocentric chromosomes.
CENTROMERE LOCATIONS AND DESIGNATIONS OF
CHROMOSOMES BASED ON CENTROMERE LOCATION. NOTE THAT
THE SHAPE OF THE CHROMOSOME DURING ANAPHASE OF
MITOSIS IS DETERMINED BY THE POSITION OF THE CENTROMERE.
 DEFINITION:
• Metacentric chromosome: A chromosome with
a centrally located centromere, producing
chromosome arms of equal lengths.
• Submetacentric chromosome: A chromosome
with the centromere placed so that one arm of
the chromosome is slightly longer than the other.
• Acrocentric chromosome: Chromosome with
the centromere located very close to one end.
• Telocentric chromosome: A chromosome in
which the centromere is located at the end of the
chromosome.
 KARYOTYPE
Metaphase spread of barley chromosomes with
karyotype (idiogram) displayed.
Human chromosomes are divided into 7 groups & sex
chromosomes

A:1-3 Large metacentric 1,2 or

submetacentric
B: 4,5 Large submetacentric, all
similar
C: 6-12, X Medium sized,
submetacentric - difficult
D: 13-15 medium-sized
acrocentric plus satellites
E: 16-18 short metacentric 16 or
submetacentric 17,18
F: 19-20 Short metacentrics
G: 21,22,Y Short acrocentrics
with satellites. Y no satellites.
Chromosomes (G-banded) for normal male individual
Chromosome (G-banded) Spread
(47, XY, +21, Trisomy 21)
Idiogram (G-banding) of Human Chromosomes
(47, XY, +21, Trisomy 21)
 KARYOTYPE
a) Metaphase chromosomes of the
deerlike Asian muntjak stained to
show G-banding.
b) Metaphase human chromosomes
stained with acridine orange to
show R-banding.
c) Metaphase chromosomes of the
domestic sheep stained to show
C-banding.

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