CYTOGENETICS: PRE-FINAL
have one X and one Y chromosome. In females,
Human Chromosomes.
Humans have 23 pairs of chromosomes. Pairs 1-
22 are autosomes. Females have two X
chromosomes, and males have an X and a Y
chromosome.
Of the 23 pairs of human chromosomes, 22 pairs
are autosomes (numbers 1–22 in Figure
above). Autosomes are chromosomes that
contain genes for characteristics that are
unrelated to sex. These chromosomes are the
same in males and females. The great majority of
human genes are located on autosomes.
The remaining pair of human chromosomes
consists of the sex chromosomes, X and Y.
Females have two X chromosomes, and males
one of the X chromosomes in each cell is
inactivated and known as a Barr body. This
ensures that females, like males, have only one
functioning copy of the X chromosome in each
cell.
Types of Chromosomes:
Telocentric
A chromosome whose centromere is located at
one end. The centromere is located very close to
the end of the chromosome that the p arms
would not, or barely, be visible.
Centromere found at end of chromosome,
meaning no p arm exists (chromosome not
found in humans).
Acrocentric
A chromosome where the centromere is not
central and is instead located near the end of the
chromosome. Humans usually have five pairs of
acrocentric autosomes (chromosomes 13, 14,
15, 21, 22). The Y chromosome is also
acrocentric.
Centromere severely off-set from centre, leading
to much shorter p arm (e.g. chromosomes 13 -
15, 21, 22, Y).
Submetacentric
A submetacentric chromosome is a chromosome
whose centromere is located near the middle. As
a result, the chromosomal arms (i.e. p and q

arms) are slightly unequal in length and may also
form an L-shape.
Centromere off-centre, leading to shorter p arm
relative to q arm (e.g., chromosomes 2, 4 - 12,
17, 18, X).
Metacentric
A chromosome whose centromere is centrally
located. As a result, the chromosomal arms (i.e.,
p and q arms) are almost equal in length. A
metacentric chromosome would have the X
shape.
Centromere is in middle, meaning p and q arms
are of comparable length (e.g. chromosomes 1,
3, 16, 19, 20).
GENETIC DISORDERS:
Down Syndrome
Down syndrome is a genetic condition where
people are born with an extra chromosome.
Most people have 23 pairs of chromosomes
within each cell in their body, for a total of 46. A
person diagnosed with Down syndrome has an
extra copy of chromosome 21, which means
their cells contain 47 total chromosomes instead
of 46. This changes the way their brain and body
develop.
Klinefelter Syndrome
Klinefelter syndrome (KS) is a genetic condition
where there’s an extra X chromosome present in
a male’s genetic code. Instead of having a total
of 46 chromosomes, they have 47 — with two
copies of the X chromosome and one copy of the
Y chromosome (47,XXY). There are some forms
(called mosaic) where only some (not all) of the
person’s cells have this change (other cells can
either have the typical 46 XY, or can have
another abnormality).
Klinefelter syndrome is a congenital condition,
which means it’s present from the time of birth.
There are certain tests that can be done during
CYTOGENETICS: PRE-FINAL
pregnancy that can diagnose it before birth,
however more often it’s diagnosed later in life. If
not found before birth, it can sometimes be
diagnosed because the baby has a smaller penis
than expected, or later in the teenage years if
puberty doesn’t start or progress as expected.
Edward Syndrome
Edwards syndrome, also called trisomy 18
syndrome, is an autosomal chromosomal
disorder due to an extra copy of chromosome 18.
Edwards syndrome is one of the autosomal
trisomy syndrome, second in frequency only to
trisomy 21. It is a very severe genetic condition
that affects how your child’s body develops and
grows. Children diagnosed with trisomy 18 have
a low birth weight, multiple birth defects and
defining physical characteristics.
Turner Syndrome
Turner syndrome, a condition that affects only
females, results when one of the X
chromosomes (sex chromosomes) is missing or
partially missing. Turner syndrome can cause a
variety of medical and developmental problems,
including short height, failure of the ovaries to
develop and heart defects.
Cloning of Genes
• Gene cloning is the process in which
a gene of interest is located and copied
(cloned) out of all the DNA extracted
from an organism.
• Gene cloning involves separation of
specific gene or DNA fragments from a
donor cell, attaching it to small carrier
molecule called vector and then
replicating this recombinant vector into
a host cell.
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Steps of Cloning: • Therapeutic cloning produces

embryonic stem cells for experiments
1. Isolation of target DNA fragments (often
aimed at creating tissues to replace
referred to as inserts).
injured or diseased tissues.
2. Ligation of inserts into an appropriate cloning
Artificial cloning occurs when the creation of the
vector, creating recombinant molecules (e.g.,
clone is due to human intervention, rather than
plasmids).
via natural occurrence. Artificial cloning is
3. Transformation of recombinant plasmids into carried out for many purposes, using a variety of
bacteria or other suitable host for propagation. techniques. It also may be carried out on several
individual structural levels, including genes,
4. Screening/selection of hosts containing the individual cells, tissues and whole organisms.
intended recombinant plasmid.
Mutation
Natural Method
• A mutation is a change in the DNA
Natural cloning is the production of clones (an
sequence of an organism. Mutations can
exact copy of an organism) without the
result from errors in DNA replication
involvement of genetic engineering techniques.
during cell division, exposure to
Budding, fragmentation, and
mutagens or a viral infection.
parthenogenesis are some examples of natural
• Is an alteration in the nucleic acid
cloning processes. Natural cloning is also
sequence of the genome of an organism,
observed in humans and mammals. This happens
virus, or extrachromosomal DNA.
when the fertilized egg splits into two embryos
• Mutations are errors in codons caused
that carry the same DNA. Identical twins have
by changes in nucleotide bases. Some
the same genetic construction but are different
mutations may not have much effect.
from the parent. It may occur accidentally in the
For example, if the codon GAA becomes
case of identical twins, alongside an organism's
the codon GAG, because the genetic
main mode of reproduction or be the organism's
code is degenerate, the codon will still
main mode of reproduction such as in bacteria.
code for the amino acid glutamate. Such
The reproductive process that results in the
ineffectual mutations are called silent
natural creation of clones is called asexual
mutations. Some mutations, however,
reproduction and while it occurs mainly in single-
can have a huge affect on coding for
celled organisms, some simpler multicellular
amino acids, which can in turn affect
organisms like plants can also do it!
what proteins are produced, which can
Artificial Method have a profound effect on cellular and
organismal function.
There are three different types of artificial
• The most common mutations occur in
cloning: gene cloning, reproductive cloning and
two ways: 1) a base substitution, in
therapeutic cloning.
which one base is substituted for
• Gene cloning produces copies of genes another; 2) an insertion or deletion, in
or segments of DNA. which a base is either incorrectly
• Reproductive cloning produces copies of inserted or deleted from a codon.
whole animals.

Base Substitutions Mutations
Base substitutions can have a variety of effects.
The silent mutation cited above is an example of
a base substitution, where the change in
nucleotide base has no outward effect. A
missense mutation refers to a base substitution
when the change in nucleotide changes the
amino acid coded for by the affected codon. A
nonsense mutation refers to a base substitution
in which the changed nucleotide transforms the
codon into a stop codon. Such a change leads to
a premature termination of translation, which
can badly affect the formation of proteins.
Insertion/Deletion Mutations
When a nucleotide is wrongly inserted or deleted
from a codon, the affects can be drastic. Called a
frameshift mutation, an insertion or deletion can
affect every codon in a particular genetic
sequence by throwing the entire three by three
codon structure out of whack. For example,
given the code:
GAU GAC UCC GCU AGG, which codes for the
amino acids aspartate, aspartate, serine, alanine,
arginine.
If the A in the GAU were to be deleted, the code
would become: GUG ACU CCG UAG G
In other words, every single codon would code
for a new amino acid, resulting in completely
different proteins coded for during translation.
The physical results of such mutations are,
understandably, usually catastrophic.
• G1 phase. Metabolic changes prepare
the cell for division. At a certain point -
the restriction point - the cell is
committed to division and moves into
the S phase.
CYTOGENETICS: PRE-FINAL
• S phase. DNA synthesis replicates the
genetic material. Each chromosome now
consists of two sister chromatids.
• G2 phase. Metabolic changes assemble
the cytoplasmic materials necessary for
mitosis and cytokinesis.
• M phase. A nuclear division (mitosis)
followed by a cell division (cytokinesis).
Mitosis
Mitosis is a form of eukaryotic cell
division that produces two daughter cells
with the same genetic component as the
parent cell. Chromosomes replicated
during the S phase are divided in such a
way as to ensure that each daughter cell
receives a copy of every chromosome. In
actively dividing animal cells, the whole
process takes about one hour.
Prophase
• Prophase occupies over half of
mitosis. The nuclear membrane
breaks down to form a number of
small vesicles and the nucleolus
disintegrates. A structure known
as the centrosome duplicates
itself to form two daughter
centrosomes that migrate to
opposite ends of the cell. The
centrosomes organize the
production of microtubules that
form the spindle fibers that
constitute the mitotic spindle.
The chromosomes condense into
compact structures. Each
replicated chromosome can now
be seen to consist of two identical
chromatids (or sister chromatids)
held together by a structure
known as the centromere.
• First part of cell division.
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• Centromeres migrate to the • The cell begins to elongate.

poles.
Prometaphase
• The chromosomes, led by their
centromeres, migrate to the
equatorial plane in the mid-line of
the cell - at right-angles to the
axis formed by the centrosomes.
This region of the mitotic spindle
is known as the metaphase plate.
The spindle fibers bind to a
structure associated with the
centromere of each chromosome
called a kinetochore. Individual
spindle fibers bind to a
kinetochore structure on each
side of the centromere. The
chromosomes continue to
condense.
Metaphase
• The chromosomes align themselves
along the metaphase plate of the spindle
apparatus.
• Spindle from centromeres are attached
to chromosomes that are aligned in the
center of the cell
Anaphase
Telophase
• The final stage of mitosis, and a reversal
of many of the processes observed
during prophase. The nuclear membrane
reforms around the chromosomes
grouped at either pole of the cell, the
chromosomes uncoil and become
diffuse, and the spindle fibers disappear.
• Daughter nuclei begin forming.
• A cleavage furrow (for cell division)
begins to form.
Cytokinesis
• The final cellular division to form two new
cells. In plants a c ell plate forms along
the line of the metaphase plate; in
animals there is a constriction of the
cytoplasm. The cell then enters
interphase - the interval between
mitotic divisions.

• The shortest stage of mitosis. The

centromeres divide, and the sister
chromatids of each chromosome are
pulled apart - or 'disjoin' - and move to
the opposite ends of the cell, pulled by
spindle fibers attached to the
kinetochore regions. The separated
sister chromatids are now referred to as
daughter chromosomes. (It is the
alignment and separation in metaphase
and anaphase that is important in
ensuring that each daughter cell receives
a copy of every chromosome.
• Daughter chromosomes are pulled
toward the poles.