cytogenetics M1: Basics and Background of Cytogenetics
▪ Biophysics, Bioengineering, and
BACKGROUND
Most MT courses and numerous fields of science
deal with genetic material to some degree (e.g.?)
▪ Specially those sciences in health-related
courses
▪ DNA and RNA are always talked about
specially because nowadays, most, if not all
diseases, are somehow genetic or they have
that nature of being connected to our genetic
makeup.
Commonly confused with other fields that study
genetic material extensively:
▪ Biochemistry
▪ Molecular biology
▪ Genetics
o It is necessary to differentiate these
three because all of these appear in
our curriculum.
o Before we further study cytogenetics,
we have to understand how these
three are interrelated and how they
are different from each other
Biochemistry
− Chemistry of life (biomolecules including
NA)
▪ It is mainly a chemistry subject but it talks
about the molecules or chemicals that
have something to do with making life
possible or those that affect life, and these
are proteins, carbohydrates, lipids,
including nucleic acids.
− Known products of unknown gene
MOLECULAR BIOLOGY
− Biology at a molecular level
▪ When you think of molecular biology,
you’d think of Laboratory
techniques — but these are not just
molecular techniques in terms of
molecular genetics technique.
− They are actually interdisciplinary techniques
are used in order to study the interaction of
cellular systems.
molecular diagnosis
− Known products of known genes
GENETICS
− Study of genes, heredity, and genetic
variation that play a role in diseases.
− Gregor Mendel: Father of Genetics o He
used pea plants to study the inheritance of
traits.
− Genes with unknown products
Our course falls under:
GENETICS
Under genetics, there are numerous branches or
fields (if you look at different books/journals, you
will find that there are several types or fields of
genetics) but the two most commonly confused
with each other are:
▪ Molecular genetics
▪ Cytogenetics
As mentioned in the orientation, previously, in the
curriculum, there was no molecular diagnosis or
molecular biology that is why the cytogenetics
subject makes up for that and combines a little bit
of molecular genetics and the whole of
cytogenetics.
Now, since we already have molecular diagnosis
or molecular biology as part of the curriculum, we
can now focus on cytogenetics alone.
MOLECULAR GENETICS & CYTOGENETICS
• Crucial in understanding
Similarities/ genetic diseases
Comparisons • Both study DNA and
chromosomes
• Molecular genetics –
using techniques & technology
at the level of the DNA (e.g.
amplification, DNA isolation,
etc)
• Cytogenetics – using
numerical and structural
Differences/ variations in the
Contrast chromosomes through
microscopic techniques (e.g.
FISH: fluorescence in situ
hybridization, karyotyping, etc)
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 cytogenetics M1: Basics and Background of Cytogenetics
▪ We are not going to go into
PCR, Agarose gel
electrophoresis; we are
only going to mention
them partly but we are not
going to thoroughly study
them.
▪ We will concentrate on
chromosomes
because this is the reason
why cytogenetics is
actually named
cytogenetics.
▪ Because, it concentrates
on the cells and the
important part of the cells
which are responsible for
the genetic makeup of an
individual and these are
the chromosomes.
▪ We will talk about what is
normal and
different/aberrant in
chromosomes
Often times, when we study something, we have to take a
look at its history.
“We live life forward, but we understand it backwards” –
Joyce Meyer
In cytogenetics, we have to recall how is it that we
have come to accept these knowledge or facts as
facts.
At first, as you may remember from BioChem
class, it’s that they did not even understand that
cells existed way back then.
▪ They thought that the reason why they named
them cell is because they thought they were
empty and they were only encapsulated or
resembling the cells wherein persons or
prisoners were incarcerated.
▪ So, the first idea that paved the way for us to
understand or start studying cytogenetics
happened when they realized that
chromosomes, chromatin, and mitosis
existed.
EXISTENCE OF CHROMOSOMES, CHROMATIN, MITOSIS
They knew that cells divided but they did not
understand how.
They also realized that there is a sustainable part
in the cell called the chromatin.
That is the time they also found out or proposed
the idea that there are these substances or parts of
the cell that are responsible for something that
they have no idea what is, and these are the
chromosomes.
Among the notable names that we can give credit
to in terms of finding out the existence of
chromosomes, chromatin, and mitosis is
Walther Flemming (1882).
▪ He is the one among the first who proposed
that chromosomes, chromatin, and mitosis
exist.
Some other scientists doing independent work came up
with a:
CHROMOSOME THEORY OF INHERITANCE
They believed that somehow, these have
something to do with inheritance or heritable
traits of how we view phenotypic
expression.
However, they still could not understand it well.
▪ Waldeyer → coined the term chromosome
(Greek: colored body)
▪ Sutton, Boveri → they did some work to
prove that chromosomes are responsible for
certain heritable traits
▪ Sutton → coined the terms cytogenetics
(cytology + genetics = cytogenetics)
DETERMINATION OF NO. OF CHROMOSOMES
In order for you to study something, whether it is
abnormal or not (in order to determine whether it
causes a disease), you need to know what its
normal appearance first.
▪ For example, if you are going to determine
whether a money is fake or not, you have to
know how a real money looks like.
Back then, they did not even know the number of
chromosomes in the cell, the normal appearance
of chromosome at what phase of the cell.
Hence, they could not determine the role of
chromosome to diseases.
▪ For instance, they can determine those
patients with Down Syndrome, but they
failed to know that the manifestations of
Down Syndrome are because of the
discrepant number of chromosomes that
are present in a baby with and without Down
Syndrome.
a) PAINTER
Studies meiotic chromosomes from
testicles of Texas State Insane Asylum
inmates.
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 cytogenetics M1: Basics and Background of Cytogenetics

▪ When he did some work, that was the

CHROMOSOMAL SYNDROMES
only time that they started determining
After finding out the number of chromosomes and
the number of chromosomes in the cell.
▪ Therefore, they know that chromosomes putting them in order in a karyotype, they now
exist, stainable, and has something to do already know what is normal or what is expected
in a typical cell.
with heritable traits.
▪ However, they did not know how many Thus, this leads to the discovery of Chromosal
chromosomes are present. Syndromes, which are classifications of
▪ Way back then, they thought that there chromosome abnormalities or chromosome
are actually (normally) 48 aberrations.
chromosomes in the body. ▪ It is the way by which they are grouped
together (e.g., anupuploidy, deletion, etc.)
The study of Painter involves acquiring cells
from the testicles of the prisoners who are They found out that abnormalities in
incarcerated for life and are given life chromosomes could have a phenotypic
sentences. effect.
▪ Unethical studies were relevant back then, ▪ When there is a mutation in the DNA
thus they often do experimentations on itself, incorrect or change expression of the
prisoners because of having the thinking of protein can happen.
prisoners do not have any rights. ▪ When a DNA produces a product, we are
▪ Prisoners won’t be able to complain, their saying that it is expressed.
loved ones would not find out what ▪ The expressed/produced product
happened to them, and since they are could be dysfunctional, less in number,
destined for death, they think that is fine to hyperproduced, or would not have affect at all.
do experimentations on them. ▪ However, up until the time they determined
▪ Prisoners were castrated in order to the number of chromosomes and the
do experimentations on the testicles. arrangement from the smallest to the largest
▪ Eventually, they were sentenced to death chromosome (karyotype of a cell), they were
hence no one was held accountable. not able to correlate that these abnormalities
These are facts in the history of science that in chromosome number itself could actually
we don’t necessarily agree with, but have a phenotypic expression.
nevertheless, still happened.
So, we have to accept that fact.
CELL DIVISION
b) LEVITSKY
TWO GENERAL TYPES OF CELLS IN THE BODY
Levitsky is another scientist who came up with
SOMATIC CELLS SEX CELLS
karyotype. • Contain 23 pairs • Sperm cell and the egg
Karyotype is the chronological of egg cell which contain a
arrangement of the chromosomes in a cell. chromosomes (46 total of 23
▪ It is the process of pairing and ordering all in total) chromosomes (*not
the chromosomes of an organism. • Undergo mitosis pairs)
▪ Example: Pair of Chromosome 1, o If you have a • Undergo meiosis
Chromosome 2, all the way to the sex certain cell, it o There will be a
would try to doubling of the
chromosomes which are the XY (male)
replicate genetic material.
and XX (female). (double) the o However,
genetic recombination
c) TIJO & LEVAN material that is happens wherein
Tjio & Levan were actually the first among within the cell the second copy of
those who accidentally proved that there are first. the genetic
only 46 chromosomes normally present. o It would material is not
2n = 46 produce an exactly the same.
▪ From 30 years ago where they exact same o Because of the
thought that there are 48 chromosomes, copy of its recombination of
somehow, they paved the way to prove genetic the genetic
material. material, each of
that there are only 46.

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 cytogenetics M1: Basics and Background of Cytogenetics

o Once it is the sex cells conception, the exact egg cell that will be formed
doubled, it will produced will carry for that month will be fertile.
now divide a different genetic − Then, out of the millions and billions of sperm cells
o So, at the end, material. that were released during that time, it is not the
there will be 2 o This is the reason
fastest cell that will reach the egg cell but only the
daughter why no two
sperm cells that survived will reach the destination
cells individuals will ever
possessing the have exactly the which is the ova (egg cell).
same amount same − It’s not the fastest sperm cell that will
and characteristics. fertilize the egg cell.
characteristic o There is different − Out of all the millions that survive and reach the
of genetic combination in egg cell, some of them, the reason why they are
material in the each person. present is just to weaken the protective
original parent mechanism of the egg cell and some are there
cell. to simply die.
Out of these 23 chromosomes (sex cells) or 23 pairs ▪ Some may reach the goal but not fertilize the
(somatic cells), there are autosomes and sex
egg cell.
chromosomes
AUTOSOMES SEX CHROMOSOMES − Right now, there are researches that actually
22 chromosomes that X and Y that determine prove that the egg cell has a chemical or
are whether if it is female (X) signal that attract a particular sperm cell
in the cell. and male (Y). that will fertilize it.
▪ If the right sperm cell arrives, that is the only
time that the egg cell will accept the sperm
RECALL: 99 BALLOONS cell.
− God has destined you out of the millions of sperm
It’s a sad video but I want you to be encouraged
cellst hat were released on that day, the mere fact
that each person on earth (whether lived for only
that you were formed and the mere fact that you
one second or one century) was meant to be
are alive right now, you can be considered as a
formed.
winner.
Don’t you ever think that you are a mistake.
▪ So even if you are the lowest in your class, you
Even if some people or you think that you think are not the favorite, not chosen, the one who
that you were born at the wrong time or in a is always bullied, whatever you are going
wrong body, mind, or anything that you think is through life, or even if you do not have the
wrong with you, remember that who you are is idea and do not understand what is
exactly what God meant you to be. happening, please understand that the mere
You just need to find out what God really meant fact that you were born and alive, you are
you to be. already chosen.
▪ There are a millions of sperm cells released by ▪ You were chosen by God to be alive.
the father of a child and when a female
person is born, all of the egg cells that MITOSIS vs MEIOSIS
will become fertile throughout her lifetime
MITOSIS
are already present in her body.
Miraculous process by which one cell will
▪ Every month of that person’s (female)
produce an exact copy of it, a daughter cell
fertile year who is a soon-to-be mother, one of
which contains the same number and type of
those egg cells will become fertile and that
chromosomes that it originally had.
exact destined egg cell that will form in that
person became fertile at the exact time
MEIOSIS
that a fetus was formed.
Produce daughter cells that are half but not
▪ Because even though when we talk about
just half since it needs other half for it to be
contraceptive methods, it seems like there is
completed for fertilization.
such a big window for a baby to be formed, it
is really not that easy to conceive a baby.
− Remember: These egg cells are already present
in the mother and at the exact month of

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 cytogenetics M1: Basics and Background of Cytogenetics

Recall that each chromosome is actually a

supercoiled DNA.
Supercoiling is a way for the DNA to be
packaged inside the cell because if you are not
The story of the 99 balloons will tell you that
going to supercoil it, it will not fit into the nucleus
even if a person was only alive for a second, a
century, or 99 days, the mere fact that that
CELL DIVISION
person has been formed, it means to say that
it was not a mistake because you cannot
make a mistake out of all the number of egg
cells that were there in a female baby’s body
up until the time that conception will occur, it is
the exact egg cell that will become fertile for
that conception.
The exact sperm cell that will form that baby
out of the millions and billions that were
released is not even the fastest or the first one
to reach the egg cell, it is the one destined
to form the baby.
The story of 99 balloons is a sad video but I
hope it encourages you that even if there are
genetic abnormalities of mistakes, it doesn’t
mean that any life or your life is a mistake.
Prokaryotic (binary fission) vs Eukaryotic
CELL DIVISION AND LEVELS (mitosis)
The differences in the supercoiling of the DNA or
how the DNA is packaged into the cell is also the
reason why there is a difference in the cell division
of prokaryotic cells versus the eukaryotic cells.

LEVELS OF GENETIC ANALYSIS

There are different levels by which we can perform
genetic analysis.
We can do classical genetics just like what
Gregor Mendel has performed, wherein we will be
after the outcomes.

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 cytogenetics M1: Basics and Background of Cytogenetics

We can also talked about transmission genetics, CHROMOSOME 22 • Slightly larger than 21
population genetics, or molecular genetics but instead of being
what we are after is cytogenetics. smaller.
▪ Agriculture • Chromosomes 21 &
▪ Medicine (Primary Care and Public Health): 22 are slightly
Production of pharmaceuticals or in deviant from the
usual range wherein
understanding diseases, whether in the primary
they are arranged
healthcare or in public health
from the largest to
▪ Society: This is because we can also talk smallest.
about population genetics, how frequent
certain illness or diseases are in certain groups
of people.

NOMENCLATURE

Another thing in studying chromosomes is getting to know

how chromosomes are named or the “Nomenclature of
Chromosomes.”

1950s
The system of naming chromosomes started in
the 1950s when they discovered that instead of
48 chromosomes, (which was accepted for
3 years), there were only actually 46
An example of Karyogram:
chromosomes in the human cells.
Karyogram: A picture of a karyotype.
Tjio & Levan: Started the concept that there
Karyotype: When chromosomes are
were actually 46 chromosomes in the human
characterized and arranged in chronological order
cell
for studying the chromosome make-up of an
individual.
International System for Human
Cytogenetic Nomenclature (ISCN)
These 17 investigators formed a group 2) DIVIDED BY ARMS
called, “International System for Human • Chromosomes are divided into long and short
arms by a centromere or primary
Cytogenetic Nomenclature (ISCN)”.
constriction.
Symbolic writing method to describe genetic • By convention, when we draw or take picture of
changes by: chromosomes, they arranged them in way that:
A. Copy number (dosage) ▪ The short arm (p arm) is at the top.
B. Position (locus) ▪ The long arm is (q arm) at the bottom
q arm/ long • It is long in size.
b. CHARACTERISTICS OF CHROMOSOMES arm • It is drawn at the bottom.
• It is short in size which came
The nomenclature of chromosomes helps us
p arm/ short from different short or petite
describe when an abnormality occurs and in order arm meaning, “small.”
to understand the nomenclature, we have to
• It is drawn at the top
remember the characteristics of chromosomes:

1) ASSIGNED NUMBERS BASED ON SIZE

3) LOCATION OF CENTROMERE
Chromosomes are assigned numbers based on size, METACENTRIC • The centromere is located
from largest to the smallest (except for chromosome
at the center or centrally
22, which is slightly larger than 21 instead of being
located centromere.
smaller).
• Chromosome 1
CHROMOSOME 1 Largest chromosome. • Chromosome 3
CHROMOSOME 20 Smallest chromosome SUBMETACENTRIC • The centromere is slightly
towards the end.
• Large chromosome 4

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 cytogenetics M1: Basics and Background of Cytogenetics
• Large chromosome 5
ACROCENTRIC • The centromere is almost
towards the end.
• Medium chromosome 13
• Medium chromosome 15
TELOCENTRIC • The centromere is really at
the end of the
chromosome, hence
considered abnormal.
By convention, when we draw or when we take
pictures of chromosomes, we arrange them in a way
that the short arm is drawn or photographed while
it is at the top and the q arm is at the bottom.
c) KARYOTYPE DESCRIPTIONS
A standardized nomenclature or system of naming
and writing chromosomes is particularly important
in important in describing chromosome
aberrations.
Total Number | Comma | Sex Chromosome
Complement → Aberration
▪ when we describe karyotypes, we usually write
the total number separated with a
comma, followed by the sex
chromosome complement and then
the aberration is described after this
general description.
▪ Sometimes the type of aberration is
represented by 1 to 3 letter designations
and this is usually written before this entire
description.
Example 1: on Normal Karyotype
Description
A normal female individual without any
chromosome aberration.
▪ 1st step: Total number = 46
▪ 2nd step: Separated by a comma from the
next information which is the sex chromosome
compliment.
▪ 3rd step: Sex chromosome complement for
female = XX.
▪ Answer: 46, XX
Example 2: on Karyotype Aberration
What if there is an aberration such as Trisomy
18 on a male individual?
▪ 1st step: Trisomy 18 involves 3 copies of
chromosome 18 which leads the total number
of chromosomes to 47.
▪ 2nd step: Separated by a comma from the
next information which is the sex chromosome
compliment.
▪ 3rd step: Sex chromosome complement from
which the patient is either male or female.
o Sex chromosome complement for male =
XY
▪ 4th step: To state that there are 3 copies
(from Trisomy 18) in the chromosome 18, an
additional symbol of “+18” is included.
▪ Answer: 47, XY + 18
Example 3: on Karyotype Aberration:
What if there is a different aberration such as
Mosaicism?
▪ 3 letters such as “mos” is added followed by
the karyotype description mos ______
Example 4: on Karyotype aberration:
What if there is a Translocation?
▪ 1st step: Translocation is represented by “t”
▪ 2nd step: Indicate the chromosome it is found.
▪ 3rd step: Then, there is an additional
information in where particularly the entire
chromosome it is located such as if it is in the
long (q) or short arm (p).
▪ 4th step: Lastly, indicate the band number.
d) BANDING
In comparison to the address of house which has
the house number, street, barangay, city, the
chromosome also follows such order.
The chromosome has the following
order:
1. Chromosome number.
2. Arm where it is located.
3. Band – heavily staining portion of
chromosome
G BANDING • Traditionally, the Gbanding is
used makes use of Giemsa.
Q BANDING • Q makes use of quinacrine
dihydrochloride
R BANDING • Another method of staining it
makes use of Phosphate
Buffer but the results are the
reverse of G-banding results.
When given q131, this means that:
▪ It is in the long arm = q
▪ Band number = 131
Similar to the example above, each chromosome
will have bands which is the dark staining
portions of the chromosome and are designated
by a particular number for the purpose of telling
the location.
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 cytogenetics M1: Basics and Background of Cytogenetics
GLOSSARY OF TERMS
Acentric fragment (a)
A segment of a chromosome that lacks a
centromere
Additional material of unknown
origin (add)
Indicates additional material of unknown origin
has been added to a chromosome region or
band.
The “add” triplet does not imply any particular
mechanism, and the additional material may
actually replace part of a chromosome arm.
Allele
A sequence variant of a gene
Band
A part of a chromosome that is distinguishable
from its adjacent segments by appearing
darker or lighter with one or more banding
techniques
Centromere (cen)
The primary constriction that divides the
chromosome into the short arm (p arm) and
the long arm (q arm); the region of a
chromosome that contains the kinetochore, a
microtubule organizing center (MTOC)
responsible for attachment of the sister
chromatids to the spindle apparatus at mitosis
Chiasma or chiasmata (xma)
The point where two homologous non-sister
chromatids exchange genetic material during
meiosis (sister chromatids also form chiasmata
between each other, but because their genetic
material is identical, it does not cause any
change in the resulting daughter cells).
The chiasmata become visible during the
diplotene stage of prophase I.
Chimera (chi)
Cell lines originating from different zygotes. A
chimera is formed by the merging of two
nonidentical twins in early blastocyst phase or
acquired through allogeneic hematopoietic
stem cell transplantation.
Chromatid (cht)
One of the two identical copies of a replicated
chromosome
Chromatid gap (chtg)
A nonstaining region of a single chromatid in
which there is minimal misalignment of the
chromatid
Chromosome (chr)
An organized structure of DNA-bound
proteins that houses many genes and
regulatory elements. Each chromo some is
made up of DNA tightly coiled many times
around histones that support its structure.
Chromosome paint
Fluorescent probes stretching over the entire
length of a speci fifi c chromosome.
These probes consist of libraries of DNA
sequences derived from flfl ow-sorted
chromosomes.
Clone
A cell population derived from a single
progenitor cell. A clone comprises two mitotic
cells with the same gain or structural
aberration or three cells with the same
chromosome loss.
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 cytogenetics M1: Basics and Background of Cytogenetics
Comparative genomic hybridization
(cgh)
A molecular cytogenetic method for the
detection of copy number changes
(gains/losses/chromosomal imbalances) in a
patient’s DNA
Composite karyotype (cp)
A karyotype containing all clonally occurring
abnormalities in a tumor
Constitutional anomaly (c)
An abnormality present at conception. The
letter “c” in a nomenclature string refers to a
constitutional abnormality that is present in a
tumor karyotype.
Deletion (del)
A mutation that results in the loss of
nucleotides from a DNA sequence or a
chromosome
De novo (dn)
Genetic mutation that neither parent possesses
or transmits to their offspring
Derivative chromosome (der)
A structurally rearranged chromosome
generated either by a rearrangement involving
two or more chromosomes or by multiple
aberrations within a single chromosome.
The term always refers to a chromosome that
has an intact centromere.
Dicentric (dic)
An aberrant chromosome with two
centromeres that forms when two
chromosome segments (from different
chromosomes or from the two chromatids of
a single chromosome), each with a
centromere, fuse, with loss of the resulting
acentric fragments
Double minute (dmin)
Extrachromosomal DNA associated with gene
ampli fifi cation and a selective growth
advantage in human tumors
Duplication (dup)
A segment of a chromosome that is present
more than once on that chromosome.
Endoreduplication (end)
Duplication of the genome without mitosis,
giving rise to four-stranded chromosomes at
prophase and metaphase
Exchange (e)
Refers to either chromatid (chte) or
chromosome (chre) exchanges.
Exchange is the result of two or more
chromatid or chromosome lesions and
subsequent rearrangement of chromatid or
chromosome material.
Fission (fis)
Centric fission refers to breakage through the
centromere resulting in two derivative
chromosomes
Fluorescence in situ hybridization
(FISH)
A technique used to detect and localize the
presence or absence of specific DNA
sequences on chromosomes using fluorescent
probes that bind with high sequence similarity
to the part of the chromosome being
interrogated
Fragile site (fra)
Heritable chromosomal sites that exhibit gaps
or constrictions on chromosomes when
exposed to partial replication stress. Fragile
sites are classi fifi ed as either “common” or
“rare,” depending on their frequency.
Heterochromatin, Constitutive
− Highly condensed, repetitive DNA found in the
centromeres and telomeres that are
transcriptionally silent.
Heterozygous (htz)
Diploid cell or organism that contains two
different variants of a given gene,
chromosome, or chromosome region/arm
Homozygous (hmz)
Diploid cell or organism that contains two
identical copies of a given gene, chromosome,
or chromosome region/arm.
Homogeneously staining region
(hsr)
Intrachromosomal segments of various length
and uniform staining intensity after G-banding
that house amplified genes
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 cytogenetics M1: Basics and Background of Cytogenetics
Idem
Latin for the same. Refers to the stemline or
most basic acquired aberrations in a subclone
of a tumor population. The terms idem and sl
may be used interchangeably if only one
additional subclone is present in a tumor
population.
Idiogram
A diagrammatic representation of a karyotype
Incomplete karyotype (inc)
The karyotype present is incomplete, usually
because of poor chromosome quality.
The term inc is placed at the end of the
nomenclature string, after the description of
the identifiable abnormalities.
Insertion (ins)
A chromosomal segment is displaced (two
breaks) and relocated into a different
chromosomal region (necessitating a third
break).
The orientation of the inserted segment may
be retained in its original orientation or
inverted. An insertion may involve different
chromosomes or may beintrachromosomal
Inversion (inv)
A chromosomal segment created by two
breaks is rotated 180º and reinserted into the
same chromosome
Isochromosome (i)
An abnormal chromosome with two identical
arms
Isoderivative chromosome (ider)
Designates an isochromosome formation from
one of the arms of a derivative chromosome
Isodicentric chromosome (idic)
Designates an isochromosome with two
centromeres
Karyogram
A systematic array (picture or figure) of
chromosomes
Karyotype
The chromosomal complement of an individual
(if constitutional) or tissue (if acquired) or cell
line
Landmark
A cytological feature of a chromosome that
aids in the identification of that specific
chromosome, for example, the centromere, p
arm, q arm, telomere, or certain defined bands
Mainline (ml)
A quantitative term referring to the most
frequent chromosome constitution of a tumor
cell population
Marker chromosome (mar)
A structurally abnormal chromosome in which
no part can be unambiguously identified by
conventional banding techniques
Maternal origin (mat)
Derived from the mother
Microarray (arr)
An ordered array of microscopic elements on
a planar substrate that allows the specific
binding of genes or gene products
Modal number (mn)
The most frequent chromosome number in a
tumor cell population.
The modal number may be expressed as a
range.
Mosaic (mos)
Two or more cell lines are present
Neocentromere (neo)
A functional centromere in a novel (non-
centromeric) location.
May lack specific classes of deoxyribonucleic
acid ( a -satellite DNA) that are usually
present in a centromere.
Nucleolar organizing regions (NOR)
A part of the acrocentric short arm that
contains tandem copies of ribosomal or rRNA
genes in large, clusters (~40 copies per gene),
present on the stalks of the short arms of
chromosomes 13, 14, 15, 21, and 22. NORs are
detected with silver staining.
Paternal origin (pat)
Derived from the father
Premature centromere division (pcd)
Premature centromere division represents a
loss of controlover the sequential separation
and segregation of chromosome centromeres
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 cytogenetics M1: Basics and Background of Cytogenetics
because the chromosomes are not attached at
the centromere; for example, pcd with
chromatid puffing in areas of constitutive
heterochromatin is found in Robert syndrome.
Premature chromosome
condensation (pcc)
Results when an interphase cell fuses with a
mitotic cell, causing the interphase cell to
produce condensed chromosomes
prematurely
or example, pcc may be achieved following
cell fusion mediated either by fusogenic viruses
or by polyethylene glycol.
Quadriradial (qr)
An interchange fifi gure with four chromosome
arms
Ring chromosome (r)
Results when a chromosome breaks in two
places and the ends of the chromosome arms
fuse together to form a circular structure
Reciprocal (rcp)
An exchange of material (translocation)
between two nonhomologous chromosomes
Recombinant chromosome (rec)
A structurally rearranged chromosome with a
new segmental composition resulting from
meiotic crossing-over involving a displaced
segment and its normally located counterpart
in certain types of structural (inversion or
insertion) heterozygotes
Region
An area of a chromosome lying between two
adjacent landmarks.
Regions are numbered outward from the
centromere on both chromosome arms
Robertsonian translocation (rob)
A translocation involving two acrocentric
chromosomes that fuse near the centromere
with resulting (inconsequential) loss of the
short arms
Sister chromatid exchange (sce)
An interchange of homologous segments
between two chromatids of one chromosome
Stemline (sl)
A term referring to the most basic clone of a
tumor cell population.
The stemline is always listed first in the
nomenclature string.
Subtelomeric region (subtel)
The chromosomal region just proximal to the
telomere (end of the chromosome) comprised
of highly polymorphic repetitive DNA
sequences that are typically situated adjacent
to gene-rich areas
Telomere (tel)
A region of repetitive DNA at the end of a
chromosome that protects it from
deterioration. In humans, the telomeres are
comprised of a repeating string of TTAGGG,
between 5 and 20 kilobases in length, and
stain darkly by T-banding.
Telomeric association (tas)
Fusion of chromosomes by their telomeres,
which predisposes a cell to genetic instability
Translocation (t)
A chromosome abnormality caused by an
exchange of genetic material between two
chromosomes. Translocations may be
balanced or unbalanced (resulting in loss or
gain or material and derivative chromosomes)
Triradial (tr)
An interchange figure with three chromosome
arms
Uniparental disomy (upd)
The condition of having both homologs, a
chromosome region, or gene from only one
parent
✧ ig: @aweglay | BSMT 2-a ✧ 11
 RMT MODULE
CYTOGENETICS
2
20
Mendelism
24

MARSHMALLOW TEST • Agriculture (farming and breeding)

• Why I made you watch the video because I
want you to be aware of the idea that
nowadays they think that everything and
anything has connection to our genes. That our
genes determine our behavior and our decision-
making process.
REVIEW
• History of Cytogenetics
• Era or the timeline of genetics is actually rooted
in the area of concentration for each particular
era in time.
Branches of Genetics
• Transmission genetics
o Aka classical genetics
o Concentrates on how the traits are
passed on from parent to offspring or
from parent to progeny
o Aka as the vertical transmission because
this was from the earliest formal
recognized branch of genetics
• Molecular genetics
o They found that DNA is the molecule that
is responsible for the transmission of traits
that are actually deoxyribonucleic acids
that are packaged or supercoiled within
chromosomes.
• Population genetics
o The era where the presence of particular
traits in a given population
BIBLICAL TIMES
For everything, absolutely everything, Above and below,
visible and invisible, … Everything got started in Him and
finds its purpose in Him (Colossians 1:16)
• The idea that traits are passed on from parent to
offspring is actually rooted in the bible
1. GENESIS TO REVELATION
• Genealogy and Prophecy
o Genealogy: importance of what family
you came from that is evident in
prophecy
o I am your creator. You were in my care
even before you were born (Isaiah
44:2a)
o Not by accident, not by coincidence,
everything is planned
• Like begets like
o Every good tree produces good fruit and
a bad tree produces bad fruit (Matthew
7:17)
o He successfully predict the new
offsprings
o Geneticists said that he was the first to
propose hybridization and cross-
breeding
• Pagans thought it was magic
• Geneticists thought it was the earliest form of
genetics- cross-breeding
3. GREEKS, ROMANS, ETC.
Chinese • Waltzing mice
- If a mouse has that dysfunction or
defects it will cause them to hop
on one leg
Hindus • Caste system
- If your parents are slave, then you
are slave too
Romans • Killed criminals
- Because they believe that a
criminal
Greeks • Pregnant mothers were advised to
look at statues in order to have a male
baby
• Hippocrates (Pangenesis, Seeds,
Fluids)
- Pangenesis: there is only a single
origin for everything in this world.
- Seeds that are passed on from
parents to offsprings that carries
the traits are actually genetics
- Fluids passed on from parents to
offspring that he believed carried
these seeds that came from single
origin
• Aristotle (Girls were
mistakes/interferences)
Dutch • Anton van Leeuwenhoek: helped
in discovery of cells; humans are
made up of cells
• Homunculus (little man), spermists
& oovists
- Believed that there is a little man
inside a sperm or egg cell
ERA OF TRANSMISSION OF GENETICS
How traits are vertically transmitted
1761 to 1766
• Joseph Kolreuter
• Crosses between tobacco plants

2. JACOB
• First geneticist

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 Mendelism | Discussed by: Crizelda L. Salita

IMPORTANT TERMS BEFORE WE PROCEED

• “Offsprings are usually intermediate in Vertical transmission Transfer of traits from
appearance between two parents. That both parent to offspring
parents make equal genetic contributions to Congenital A trait that is already
their offspring” present at birth
o Blending hypothesis of inheritance Familial Trait that runs in the family
o Blending characteristics of the parents but not always genetic
• The theory of inheritance opposed this because
e.g., your family suffers
traits are not blended together
from familial
hypercholesterolemia. It
1859- CHARLES DARWIN may due to the shared
• Publication of “The Origin of lifestyle
Species”(Pangenesis)
• he promoted the theory of COVID-19 can be passed
natural selection on between members of
o members of a household
population who are better adapted to Infectious Genes has nothing to do
the environment are more likely to with it but it is caused by
survive and pass on their traits the transfer of
o pag di namana yung traits di kailangan microorganisms
yun ng isang species Mendelian trait Traits that are passed on
• no theory regarding how traits are passed from in a simple mendelian
fashion
generation to generation has been proven true
in experiments as of Darwin’s time
e.g., Diabetes Mellitus is
• Example: a culture where in they would an example of
bandage the necks of their offsprings so they carbohydrate metabolic
would have a longer neck disorder that the person
o If that individual gave birth, they cannot metabolize sugar
believed that offspring will have a long or glucose properly. DM is
neck not a mendelian trait
because you cannot
1866- GREGOR MENDEL pinpoint DM that 1 gene is
• Austrian monk responsible. It is a
• “Father of genetics”/ “father of multifactorial trait.
transmission genetics/ classical Multifactorial trait Traits are caused by
multiple factors
genetics”
Pedigree Genetic relationship of
• Laws of inheritance based on
families wherein we can
experiments with pea plants
trace and predict the
• Genes and alleles (elementens) genetic traits that will be
which he believed are responsible for passing on apparent from one
genetic traits generation to the next
• Dominance and recessiveness Horizontal Between sisters or siblings
o Dominance: the trait will be passed on
and evident from each generation BIRTH OF CYTOGENETICS
o Recessive: the trait will be passed but it is Chromosomes took the spotlight
seen on each generation 1842 KARL o First observed
• Homozygosity and heterozygosity VILHELM chromosomes in plant cells
o Homozygosity: the copy of elementens/ o A chromosome is made
genes or alleles are the same up of short arm and long
o Heterozygosity: two different copies of arm and is divided by a
the gene or the chromosome constriction called the
• Law of Independent assortment centromere.
o Telomeres: ends
• His studies were ignored well after his death in
1882 WALTHER o German biologist
1884 but became the foundation for studies of
FLEMMING o Staining cells with dyes
inheritance
o Discovered rod-shaped
• His ancestors are into plant breeding or bodies called
gardening “chromosomes” in
• Foundation for studies of inheritance salamanders

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 Mendelism | Discussed by: Crizelda L. Salita

o Discovered the stainable 1915 THOMAS o An American geneticists

portion of chromosomes HUNT o Publication of “The
which are the colored MORGAN Mechanism of Mendelian
bodies Heredity”
1888 VON o Coined the word o Results from experiment
WALDEYER “chromosome” with fruit flies that proved
o Autosome genes are lined up along
o Sex chromosome aka as chromosomes
the idiosomes o Principle of “linkage”
1902 WALTER o American biologist - e.g., the inheritance of
SUTTON o Demonstrated that the blood type of a
chromosome exist in pairs person is actually
that are similar in structure linked to the
o In light of Mendel’s Theory inheritance of the H
that genetic “factors” gene
segregate, he concluded - a person without the H
that hereditary factors that gene do not have an
must lie on chromosomes ABO bloodtype
1902 ARCHIBALD o Discovery of Alkaptonuria o “genetic map” of fruit fly
GARROD (recessive trait) -Fruit fly: drosophila
- Alkaptonuria is the melanogaster
among the first - considered as genetic model
metabolic diseases organism and biogenetic
which was discovered. model organism
- A person with o Basis for gene mapping
alkaptonuria will have principles
a problem - Genetic mapping is done in
metabolizing certain order to understand diseases
amino acid and human cells
- The urine darkens in
the presence of an ADVENT OF MOLECULAR GENETICS
alkaline. Urine DNA Structure and Function (DNA as the transforming
becomes black or substance and not proteins)
dark brown.
o First evidence that the FRIEDRICH o Nuclein
study of inheritance can MIESCHER o Experimented on bandages.
benefit the practice of He discovered that it is
medicine actually made up of a
1906 o The term “GENETICS” was material called nuclein. Later
used for the first which on, they found out he was
came from PANGENESIS experimenting on white
1909 WILHELM o Danish botanist blood cells from bandage
JOHANNSEN o Proposed the term “gene” where he isolate the nucleus
(from the Greek word in order to study nuclein
“genos” which means 1928 FRED o Called the change from
“birth”) to refer to a GRIFFITH rough to smooth by heat
Mendelian hereditary killed bacteria
factor “transformation”
o Also proposed two terms: o There were mice that were
(a) Genotype: genetic infected by a smooth strain
makeup of an individual of a certain microorganism.
that we cannot readily That microorganism has the
observe; ability to kill the mice. The
homozygous/heterozygous rough strain is not fatal. Then,
(b) Phenotype: observable he heat killed the smooth
trait; blood type A has the strain to kill it and injected it
antigen that causes to the animal and the mice
agglutination of antisera in remain alive. However, when
your blood he mixed the heat killed
o Levitsky strain with the rough strain,
(a) Karyotype: the animal died.
chromosome complement o The genes of the heat killed
of an individual organism has transformed

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 Mendelism | Discussed by: Crizelda L. Salita

the rough strain into a It has not escaped our notice that the specific pairing
virulent strain we have postulated immediately suggests a possible
o Virulent is the capability of copying mechanism for genetic material
causing disease or death - J.D. Watson & F.H.C. Crick
o The traits can be passed on Medical Research Council Unit for the Study of
from one cell to another by Molecular Structure of Biological Systems, Cavendish
transformation Laboratory, Cambridge
ROSALIND o Was a student of Maurice
1944 AVERY, o Oswald Avery, Colin FRANKLIN Wilkins and Maurice was a
MACLEOD MacLeod, and Maclyn friend of Watson and Crick
& MCCARTY McCarty report evidence o She shared her experiment to
that, at least in bacteria, the Maurice and the x-ray
molecule that carries Crystallography of the DNA
genetic information is DNA to Watson and Crick
o They took live nonvirulent o Then Watson and crick
bacteria and isolated the concluded that DNA has a
DNA from heat-killed virulent helical structure.
bacteria and causes the Chargaff o He came up with the rule
animal to die that adenine will always pair
with the thymine; guanine to
cytosine
1955 JOE HIN o Determined that the number
TJIO of chromosomes in humans is
46
o 2n= diploid
o Gametes: n = haploid
o He disproved the idea that
there are 48 chromosomes
o For 30 years, the number was
1952 MARTHA o Provided final proof that believed to be 48
CHASE & DNA is the substance that 1962 BRENNER, o Sydney Brenner, Francois
ALFRED transmits inherited traits from JACOB, Jacob, and Matthew
HERSHEY one generation to the next MESELSON Meselson
o Hershey received Nobel Prize o Identified the role of RNA
in 1969 o Note: Messelson & Stahl=
o They used bacteriophage semi-conservative DNA
which is a virus that lives or Replication
uses a bacterium a host. 1966 NIRENBERG o Marshall Nirenberg and H.
o Lambda phage is a used to & Gobind Khorana lead teams
introduce the DNA from one KHORANA that cracked the genetic
microorganism to the next. code
They grew the o Central dogma (still in
bacteriophage in an connection with Watson and
environment wherein one Crick’s studies)
group or culture of the o Certain code for a particular
viruses will now be labeled as amino acid
(1) Protein and (2) nucleic
acid. CURRENT TRENDS
o Tiningnan nila saan napasa Biotechnology, Medical Genetics, and Genomics
yung DNA 1969 HYBRIDIZATION o Fluorescence in situ
1953 J. WATSON o Determined structure of the hybridization
& F. CRICK DNA molecule o In situ means on-site
o Base pairing (A-T; C-G) 1977 FRED SANGER o Chain termination
-Adenine-Thymine – 2 bonds method for sequencing
- Cytosine-Guanine – 3 bonds DNA
o Nobel Prize for this in 1962 1978 DAVID o Discovered Restriction
APRIL 25, 1953 BOTSTEIN fragment length
Molecular Structure of Nucleic Acids polymorphism (RFLP)
A structure for Deoxyribose Nucleic Acid o A technique used in order
We wish to suggest for the salt of deoxyribose nucleic to determine who is
acid (DNA). This structure has novel features which are related to whom
considerable biological interest. 1980 KARY MULLIS o PCR
1984 ALEC JEFFREYS o DNA Fingerprinting

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 Mendelism | Discussed by: Crizelda L. Salita

1990 o Human Genome Project o Green vs yellow

was started (completed in • Monohybrid crosses
2003) o Theory of Dominance and segregation
o Provided us with the o Dominance: only one copy is needed in
genetic map of the entire order for the trait to be seen or
human cell manifested; immediately observable (tall
1997 DOLLY o Scotland’s Roslin Institute peas)
(adult cells)
o Recessive: cannot be easily seen (dwarf
o Other animals:
peas)
- Fish or carp (1963) in
vitro fertilization o Segregation: when the tall and dwarf
- Cat: Carbon Copy plants mixes, they produced a product
(2001) and Little Nicky but they did not blend.
(2004) o He cross-fertilized the tall plant and dwarf
- Cattle: Daisy (1999), plant. He put the pollen on to the plant.
Millie and Emma Now, all the hybrid progeny were all tall.
(2001), Pampa (2002), Afterwards, he allowed the plant to do
Alpha & Beta (2001), self-fertilization and produced a dwarf
and Fighting Cattle plant and a tall plant.
(2007), etc. o Mono- one; he was only studying one
- Deer: Dewey (2003)
trait
- Dog: Snuppy
o They were able to deduced that there is
(controversial)
a genetic makeup of an individual that is
- Ferret: 2006
- Fruit flies: 2004 observable (phenotype and genotype)
- Goat: 2000
- Gaur: Noah (2001)
- Horse: Prometea
(2003), Paris Texas
(2005)
- Mice: 1987 from
embryo – over 12 as
of 2002
- Mouflon: 2001; first to
live past infancy
- Mule: Idaho Gem,
Idaho Star, and Utah
Pioneer (2003)
- Pig: Xena, Millie, Billy,
Alexis, Carrel, and
Dotcom (2000)
- Rabbit: 2003
- Rhesus Monkey: Tetra
(2000)
- Wolf and Water
Buffalo
➢ Scientists clone organs so that if every you need
a kidney, you don’t have to look for a donor
MENDEL
BASIC PRINCIPLES OF INHERITANCE
• Proposed by Gregor Mendel • Dihybrid crosses
• Mendelian Trait: traits that are in the rules of o Independent assortment
mendel or the basic rules of inheritance ▪ Characteristics are inherited
• Pisum sativum independently
o Green peas o Two characteristics were being study
o True breeding pod because the male o Tall and green ; dwarf and yellow
and female part of this plants are o NOT ALL inheritable traits follow simple
contained in a single-plant mendelian characteristics
o If there is a fertilization, the pod closes to Inherited Conditions in Humans
self-fertilized Dominant Traits Recessive Traits
• True-breeding ▪ Achondroplasia ▪ Albinism (lack of
o Tall vs short (dwarfism) pigment)

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 Mendelism | Discussed by: Crizelda L. Salita

▪ Brachydactyly (short ▪ Alkaptonuria (a APPLICATIONS OF MENDELIAN GENETICS

fingers) disorder of amino PUNNET SQUARE METHOD
▪ Congenital night acid metabolism) • Helps us understand and predict certain genetic
blindness ▪ Ataxia telangiectasia traits
▪ Ehler-Danlos (a neurological • We can somehow find out the possibility of
syndrome (a disorder) genetic traits of an offspring
connective tissue ▪ Cystic fibrosis (a • Method of predicting the products of two
disorder) respiratory disorder)
parents
▪ Huntington’s disease ▪ Duchenne muscular
EXAMPLE:
(a neurological dystrophy
disorder) ▪ Galactosemia (a • Father: Blood type A (phenotype)
▪ Marfan syndrome disorder of • Mother: Blood type O (phenotype)
(tall, gangly stature) carbohydrate FATHER
▪ Neurofibromatosis metabolism) HOMOZYGOUS HETEROZYGOUS
(tumorlike growths on ▪ Glycogen storage A A
the body) disease
▪ Phenylthiocarbamide ▪ Phenylketonuria (a A O
(PTC) tasting disorder of amino
▪ Widow’s peak acid metabolism)
▪ Woolly hair ▪ Sickle-cell disease (a
MOTHER
hemoglobin disorder)
There is only one possible genotype for a person who is
▪ Tay-Sachs disease (a
Blood type O because it is an example of a recessive
lipid storage
trait. It is a special recessive trait called amorph/ silent
▪ disorder)
gene
People with blood type O do not have the A antigen
or B antigen. It can only be observed in its homozygous
ALLELIC VARIATION AND GENE FUNCTION (EXCEPTIONS TO form
THE MENDELIAN GENETICS)
1. Incomplete dominance and co-dominance O O
• Incomplete dominance: minsan dominant
minsan hindi
• Co-dominance: they both appear at the same
time; Blood group antigens
HOMOZYGOUS HETEROZYGOUS
2. Multiple alleles
• Multiple alleles that are responsible for a certain O O O O
trait A AO AO A AO AO
3. Allelic series “A” “A” “A” “A”
• A series of alleles are responsible for a trait A AO AO O OO OO
4. Mutations “A” “A” “O” “O”
• They can be passed on the next generation Blood Type A
5. Penetrance and expressivity Blood Type A Blood Type O
• The gene is not always passed on from one ➢ Punnett square method is used to predict the
generation to the next offspring if we are studying only a monohybrid
• D antigen the most immunogenic among the RH cross (Mendelian Trait)
antigen ➢ Useful in predicting ABO blood groups
• If you don’t have the D antigen, you have the
capability of producing an antibody against it. FORKED-LINE METHOD
However, it does not have complete penetrance • We are studying more than one trait
and expressivity. There are times where even
when you inherited the genes it will not be
expressed. An individual without D antigen will
have a 20% chance of not producing antibody
against it
6. Gene interactions
• Genes are linked and interact with each other
• When you have a gene that makes you creative
then you can have a gene that can make you
prone to mental disorders.
7. Epistaxis PEDIGREES
8. Pleiotropy • Making predictions

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 Mendelism | Discussed by: Crizelda L. Salita

• Genetic counseling is a procedure wherein you

are going to counsel a married couple of what
are the possible traits of their offspring.
• In advanced countries, they can test the
amniotic fluid and be able to find out if the baby
will have genetic deformities or defects before
they are born

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 CYTOGENETICS 3

Two types of cell division in eukaryotes Person 1’s left hand (orange watch)

Mitosis - Tip of finger (5’) to the elbow

(3’)
Meiosis
Person 2’s left hand (green watch)
Human chromosome nomenclature:
International Society for the Naming of Chromosomes
- Tip of finger (5’) to the elbow
(3’)
History of genetics as a whole They are in an opposite position such that if
The discovery that DNA is the genetic material they would hold hands, their hands are
Friedrich Miescher – isolated DNA from bandages using the complementary even if they are both left hands or right hands
WBCs found on the blood in the bandages (magkapartner sila)
Hershey, Chase, and Avery – tried to pinpoint whether it is
the DNA or protein that causes the transferring of
inheritable traits
Adenine = Thymine
Fred Griffith – Transformation – transforming rough strain to
smooth strain Cytosine = Guanin
Determination whether it’s the DNA that’s being - These are the base pairing in an anti-parallel fashion,
transferred by making use of labeled materials and wherein one strand goes from 5’ to 3’ in one direction.
bacteriophage, then it was identified that the DNA is the While the other one goes from 5’ to 3’ in the opposite
genetic material direction
Basic laws of inheritance
Mendelian principles Anti-parallelism and complementary base pairing enable
the DNA to undergo all the processes it undergoes
Factors and elementens which are now called genes
They are also the DNA’s protective mechanism
Applications and extensions of Mendelism
They are also the reason why it can copy itself and give it
- Applications to its daughter cell
Determination of offspring
Phenotype of offspring based on predicted
genotypes using Punnett squares
1. Primary structure
- Extensions
- Nucleotide sequence
Exceptions of Mendelism
❖ Example: the sequence is GAT ACA CGA (this
Not all inheritable traits follow the three basic rules sequence of bases forms the primary structure)
Basic Principle of Inheritance - As it forms the bond between one nucleotide to the
o Principle of Dominance – there are exceptions
next, the secondary structure is created because
like co-dominance and amorph, which are
there is a turn occurring forming a helical structure
applicable for blood group antigens
2. Secondary structure
- A, B, and Z DNA
- The most common secondary structure of DNA in
- Hereditary molecule biological cells is the beta DNA (B-DNA), specially in
- Characteristics and structure which helped it become the human cells
hereditary molecule - Dehydrated form is the A-DNA
Anti-parallelism - Rare form is the Z-DNA
Complementary base pairing
Primary structure
o Nucleotide sequence
Secondary structure
o A, B, & Z DNA
Tertiary structure
o Supercoiling – the packaging of the molecular
DNA inside the nucleus

- They could either be right-handed

helical turn or left-handed helical
- There is a strand going from 5’ to 3’ always in one direction, turn.
while another strand goes the opposite but still from 5’ to 3’ - The way you turn your right thumb
- Prime – these are the location of carbon atoms towards you resembles the right-
handed helix. Similarly, with the left
- their connection is always the same, it is from 5’
thumb also.
to 3’, but they are in opposite directions
How are these relavant to us?
- Because, the helical structure isa lang siya sa form ng DNA.
In fact, it is supercoiled inside the nucleus so it can fit.
(Tertiary structure)

3. Tertiary structure
- Supercoiling – the DNA is supercoiled inside the
nucleus so that it could fit inside
- The DNA is similar to cord protectors

|

1. Transcription
- Process by which the DNA is copied by the messenger
RNA (mRNA) and is transcribed to become a mRNA so
that the message can be brought out of the nucleus
for processing
2. Translation
- Process wherein the mRNA is transformed into its
peptide or protein product so that it can be used by
the body
3. Replication
- The DNA is semi-conservatively copied so that the
copy can be passed on to the daughter cells
The primary structure (nucleotide sequence) will form its
secondary structure, which is the double helix and is 2
nanometers thick. Then, it forms the 11 nm thick fiber which
is the beads-on-a-string, wherein the DNA will wound
around proteins. These proteins are so many and they are
called histones.
In a given chromosome, the DNA does not make up
50% of it, majority of it are proteins. That is why proteins
are very important since they are the reason why the
DNA supercoils (This is the reason why pinagdebatihan
kung ang protein ba or DNA ang genetic material,
kase mas marami pa ang proteins kesa sa DNA)
After wounding on the proteins (beads-on-a-string), the
DNA will wind around each other again, forming the 30 nm
fiber. Then, they will proceed with the 300 nm fiber, the
scaffolding. The extended form will wind again until it
becomes the chromosome
DNA is the genetic material, but together with proteins, it
becomes the chromosomes
Chromosomes – carrier of genetic material
- Consistent in number for normal cells
- n = number
- Chromosome numbers:
Haploid – n
- each organism will have this “n,” the number of
chromosomes
Diploid – 2n
- each chromosome will have another copy
- Most cells are diploid, at least in humans
- Most of the body cells or autosomes are diploid,
meaning they contain twice the number of the basic
number (twice of haploid)
Tetraploid – 4n
- Organisms that has four times the basic number
Octoploid – 8n
- They contain eight
The amount of chromosomes or genetic material does not
necessarily with the complexity of the organism
- Not because we, humans, have the most complex genetic
material, means that we have the greatest number of
chromosomes, it does not always correspond
Chromosomes are made up of mostly proteins with DNA. The
DNA does not always code for useful products like proteins.
Some of them do not even make products, so they are not
expressed. Genes that are expressed lead to formation of a
product, either RNA or protein
Non-coding – huge amount of DNA found in the
chromosomes that are not expressed. They do not lead to
RNA or protein product
- Junk DNA – this was their previous name because
geneticist thought that they do not have a function
- But now, even though they have not completely
elucidated the function of the junk DNA, they are not
useless at all
Sex chromosomes – some species have unequal
number of chromosomes between sexual phenotypes
- In humans, there are 22 autosomes, and the 23rd one
will either be XX (females) or XY (males)
- In some organisms like in particular grasshoppers,
instead of XX and XY, they have XX (female) and X
(XO) (male). They only put O to designate the
absence of a pair
Chromosomes are carriers of genetic materials
- They are the packaged DNAs, when the DNA is already
packed or supercoiled in the nucleus, that becomes the
theory
- Mendel thought that factors or elementens but they found
out that it’s the genes that are found in the chromosomes
which are made up of DNA
Drosophila Melanogaster – studying this organism, they
found out that it is not only the genes that are inherited, it
is the entire chromosome.
- The chromosome has the behavior to determine on
what genes will be transferred to the offspring or
carried by the sex cells
- Not affected by the basic laws of inheritance proposed by
Mendel
Linkage – genes that are closely located in a
chromosome are linked or usually inherited
together
- Kapag magkadikit ang genes, there is a
tendency na mai-inherit sila together
because they are linked
Crossing over – mixing and matching of genes between
chromatids
- During meiosis, when the daughter cells are formed,
and non-sister chromatids that are homologous will be
placed beside each other and cross over. So, the
products will have a portion that crossed over.
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 o This is the reason why even twins or
siblings will not be exactly alike because
even if they inherited the genes from
their parents, the chromosomes in the
sex cells of their parents, none of them
are identical.
o The sperm cell carries a different
chromosome, so the genes are different
from the following sperm cell.
- Genome size increases roughly with evolutionary
complexity, thus:
Eukaryotes > Prokaryotes > Viruses
Eukaryotes have bigger genome size than
prokaryotes, prokaryotes have bigger genome size
than viruses
- Among eukaryotes, no such relationship exists
❖ Example: Frog VS Human
❖ Even if the frog’s genome is bigger than human’s
genomes, it does not mean that they are more
complex than the humans.
❖ The size of the genome found in a frog does not
correspond to is complexity compared to the genome
of a human
4. Transferring of Plasmid – it confers antibiotic
resistance, once it comes in contact with other
bacteria and underwent transformation, transduction,
or conjugation (any of these), it will transfer its
antibiotic resistance to the other bacteria
- Reason why you should finish your antibiotic
- Some people who are instructed to take
antibiotics for 7 days, stops from taking it earlier
than 7 days (ex. 3rd day, since during 3rd day there
are improvements already). It is possible that not
all bacteria were eliminated, the plasmid of the
dead bacteria will transfer to the living bacteria.
Resulting to antibiotic resistance.
- Also the reason why antibiotics only kill the
bacteria and not the person because there is a
difference between eukaryotic and prokaryotic
genetics
- Prokaryotes are the basis for tests in determining
the presence of a particular bacteria

EUKARYOTES
Chromosomal DNA – makes up most of the DNA of the
organism or cell then there are some that are located
outside (mitochondrial DNA)
Linear
Eukaryote has a linear DNA while prokaryote has a circular DNA.
-
It can be stretched from end-to-end
In prokaryotes: It will form a new DNA (nascent DNA) and
Extra-Chromosomal DNA – DNA found outside the
create the nascent protein or new protein produced due
chromosome, it is smaller in amount and is very important
to transcription and translation processes. Since it does not
Mitochondrial DNA (mtDNA) – in a cell, there is a have a nucleus, when the cell wall is destroyed (usual
mitochondria located outside, that mitochondria has target of antibiotics), the cell dies.
its own DNA.
The mitochondria comes from the mother
- In sperm cells, their
mitochondria are found on Culture Media – this is where we grow microorganism
their neck and it powers the tail - Some culture media are used to test for the
of the sperm so that it can characteristics of microorganisms
propel the head of the sperm TSI – is used in determining the members of the
that contains the chromosomal DNA to its target, the
Enterobacteriaceae
egg cell. Once it fertilizes the egg cell, the neck up to
the tail is extruded. Hence, it loses its mitochondria. Enterobacteriaceae – these are a family of bacteria usually
found in the digestive tract
Mitochondrial Eve – a study stating that if you will look
at the mitochondrial DNA contain in a person’s cells, it - One way to determine which particular member of the
is identical to the mitochondria of the mother. However, Enterobacteriaceae causes the infection
there are mutations every 20 times. - It has three types of sugar and iron and it contains:
- You can trace your mother’s ancestral side Glucose – least, because all of the
DNA is found mainly in the chromosome Enterobacteriaceae can utilize glucose for 16 to 18 or 8
to 16 hours of test
PROKARYOTES Lactose – in the absence of glucose, some of the
Enterobacteriaceae can activate lac operon, the
Bacteria portion of the bacterial DNA that utilizes lactose
Chromosomal DNA = Circular 3rd sugar
- When the chromosome is stretched, it is connected
from end-to-end a. nagstock sya sa bottom (yellow) and
Extra-Chromosomal DNA: naggrow sa top (redish-purple). First it
Plasmids will start utilizing glucose (b) for 16 to 18
hours or 8 to 16 hours of the test. Kapag
- Circular DNAs
naubos na yung glucose at walang lac
found outside the
operon, it won’t be able to utilize lactose. It will stop growing
chromosomal DNA
and remains at its same color (b) because it utilized the glucose
-
Confers special characteristics such as antibiotic and it fermented to produce acid. But then, it stops growing
resistance and reman as an alkaline in color. However, if there is a lac
Several ways of transferring their genetic material to operon, it can utilize both glucose and lactose.
another bacteria: The lac operon is only present in certain microorganisms
1. Transformation that can ferment lactose.
2. Conjugation So, if it can ferment lactose, it will trigger the lac operon, which
3. Transduction is a part of its microbial DNA or genome, and it can use lactose.

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It will not convert the color into yellow because the
fermentation process will produce acid. So, the lactose will be
Viruses undergo two types of life cycles and some viruses are
fermented, which is why you will have different results such as:
capable of both
Acidic butt (of the media)
1.
Slant which can be alkaline or acidic
H2S production
The difference in prokaryote and eukaryote spells out
differences in its characteristics, which is why it dies in
antibiotics, unicellular, prone to die on alcohol only or in
Lysol only and why humans are not affected by these.
Also, the reason why we use some enzymes from bacteria
in performing genetic analysis in humans
PCR (molecular biology) and other tests utilize
enzymes from prokaryotes because they have
differences and similarities.
2.
This image represents some common types of viruses
Escherichia coli (E. coli) – a bacteria which is included
in the Enterobacteriaceae family
Prion (Pree-on) – not a virus but a proteinaceous infectious
agent
Viruses – quite small
If bacteria are smaller than human cells, viruses are
much smaller than bacteria (typically, at least)
They have smaller genome
Structurally simpler than cellular organisms
o So simple that they are considered as nature’s
robots because they are acellular
o Åçëllülår – they lack the basic unit of life which
is the cell because they have incomplete parts
They only have the protein that encases the genetic
material and the genetic material itself
Obligate intracellular parasites (some bacteria also)
- They cannot survive without the host cell
- Even if its HIV or SARS-CoV 2, if it is left in a surface
of an inanimate object, without a host, it can die
and be killed by ordinary disinfectants
(hypochlorite and alcohol)
Many possess unusual genomes
Go through an acellular stage (lack of cellular stage)
Viruses have proteins that encapsulates its genetic material
and the genetic material will either be DNA or RNA, never
both. And their type of DNA or RNA can be double
stranded or single stranded.
They fall under four basic groups:
(i) dsDNA – doubled stranded DNA
(ii) ssDNA – single stranded DNA
(iii) dsRNA – doubled stranded RNA
(iv) ssRNA – single stranded RNA
Lytic phase – usual life cycle of a virus
- To survive, it will lyse, or destroy the host cell
The virus will go to a host cell and attaches itself to be
absorb by the host cell (papasok), Upon entry, it will
disassemble and use the genome of the cell to
replicate
it cannot replicate on its own, that’s why it needs
the host cell as its machinery to produce copies
of itself
Once it has produced enough copies of the virus, it
will destroy the host cell (lyse it) so that it can be
released and each one the viruses will infect another
host
Self-limiting – viruses have self-limiting capacities
- They will finish replicating on their own because
they lose their host due to repeated replication
- The body’s job is to outlast the virus
❖ Example: Common cold, COVID-19, Chicken pox
❖ Usually they would resolve on their own, walang
gamot, you only need to boost your immune
system because the body has to outlast the virus
since it is self-limiting.
❖ It loses a host because it uses the host to multiply
then it will lyse it to release the new virus particles
and invades another host cell repeating the
same cycle.
Lysogenic phase – alternate life cycle that can be used
by temperate viruses. Not all viruses are capable of this and
most of them are lytic only
- Mechanism:
It enters the cell and then it will remain dormant
inside the cell (magpapahinga) until in such time
the host cell is in danger, which is felt by the virus
that the cell is about to die, that is the time the
virus will look for another host
- This is the mechanism of those that causes warts,
shingles, a sequelae of chicken pox.
Shingles: You had chicken pox during your
childhood, but not all of the viruses were killed
because they hid inside the cells. There will be a
time wherein you are going to be
immunocompromised or too stressed that your
cells are threatened, causing shingles to occur.
❖ Example: patient has chicken pox in his
childhood. During his late 30s, he
developed cancer, pwedeng lumabas
ang mga chicken pox virus, Varicella
zoster, causing shingles.
Some viruses are capable of both lytic and lysogenic
phases.