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Our Course Falls Under:: Similarities/ Comparisons
Our Course Falls Under:: Similarities/ Comparisons
▪ We are not going to go into they have no idea what is, and these are the
PCR, Agarose gel chromosomes.
electrophoresis; we are Among the notable names that we can give credit
only going to mention to in terms of finding out the existence of
them partly but we are not chromosomes, chromatin, and mitosis is
going to thoroughly study
Walther Flemming (1882).
them.
▪ He is the one among the first who proposed
▪ We will concentrate on
chromosomes that chromosomes, chromatin, and mitosis
because this is the reason exist.
why cytogenetics is
Some other scientists doing independent work came up
actually named
cytogenetics. with a:
▪ Because, it concentrates
on the cells and the CHROMOSOME THEORY OF INHERITANCE
important part of the cells They believed that somehow, these have
which are responsible for something to do with inheritance or heritable
the genetic makeup of an traits of how we view phenotypic
individual and these are
expression.
the chromosomes.
▪ We will talk about what is However, they still could not understand it well.
normal and ▪ Waldeyer → coined the term chromosome
different/aberrant in (Greek: colored body)
chromosomes ▪ Sutton, Boveri → they did some work to
prove that chromosomes are responsible for
certain heritable traits
Often times, when we study something, we have to take a
▪ Sutton → coined the terms cytogenetics
look at its history.
(cytology + genetics = cytogenetics)
“We live life forward, but we understand it backwards” –
Joyce Meyer DETERMINATION OF NO. OF CHROMOSOMES
In order for you to study something, whether it is
In cytogenetics, we have to recall how is it that we
abnormal or not (in order to determine whether it
have come to accept these knowledge or facts as
causes a disease), you need to know what its
facts.
normal appearance first.
At first, as you may remember from BioChem ▪ For example, if you are going to determine
class, it’s that they did not even understand that
whether a money is fake or not, you have to
cells existed way back then.
know how a real money looks like.
▪ They thought that the reason why they named
Back then, they did not even know the number of
them cell is because they thought they were
chromosomes in the cell, the normal appearance
empty and they were only encapsulated or
of chromosome at what phase of the cell.
resembling the cells wherein persons or
Hence, they could not determine the role of
prisoners were incarcerated.
chromosome to diseases.
▪ So, the first idea that paved the way for us to
▪ For instance, they can determine those
understand or start studying cytogenetics
patients with Down Syndrome, but they
happened when they realized that
failed to know that the manifestations of
chromosomes, chromatin, and mitosis
existed. Down Syndrome are because of the
discrepant number of chromosomes that
EXISTENCE OF CHROMOSOMES, CHROMATIN, MITOSIS
are present in a baby with and without Down
Syndrome.
They knew that cells divided but they did not
understand how.
a) PAINTER
They also realized that there is a sustainable part Studies meiotic chromosomes from
in the cell called the chromatin. testicles of Texas State Insane Asylum
That is the time they also found out or proposed inmates.
the idea that there are these substances or parts of
the cell that are responsible for something that
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
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
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:
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
Idem Landmark
Latin for the same. Refers to the stemline or A cytological feature of a chromosome that
most basic acquired aberrations in a subclone aids in the identification of that specific
of a tumor population. The terms idem and sl chromosome, for example, the centromere, p
may be used interchangeably if only one arm, q arm, telomere, or certain defined bands
additional subclone is present in a tumor
population. Mainline (ml)
A quantitative term referring to the most
Idiogram frequent chromosome constitution of a tumor
A diagrammatic representation of a karyotype cell population
because the chromosomes are not attached at The stemline is always listed first in the
the centromere; for example, pcd with nomenclature string.
chromatid puffing in areas of constitutive
heterochromatin is found in Robert syndrome. Subtelomeric region (subtel)
The chromosomal region just proximal to the
Premature chromosome telomere (end of the chromosome) comprised
condensation (pcc) of highly polymorphic repetitive DNA
Results when an interphase cell fuses with a sequences that are typically situated adjacent
mitotic cell, causing the interphase cell to to gene-rich areas
produce condensed chromosomes
prematurely Telomere (tel)
or example, pcc may be achieved following A region of repetitive DNA at the end of a
cell fusion mediated either by fusogenic viruses chromosome that protects it from
or by polyethylene glycol. deterioration. In humans, the telomeres are
comprised of a repeating string of TTAGGG,
Quadriradial (qr) between 5 and 20 kilobases in length, and
An interchange fifi gure with four chromosome stain darkly by T-banding.
arms
Ring chromosome (r) Telomeric association (tas)
Results when a chromosome breaks in two Fusion of chromosomes by their telomeres,
places and the ends of the chromosome arms which predisposes a cell to genetic instability
fuse together to form a circular structure
Translocation (t)
Reciprocal (rcp) A chromosome abnormality caused by an
An exchange of material (translocation) exchange of genetic material between two
between two nonhomologous chromosomes chromosomes. Translocations may be
balanced or unbalanced (resulting in loss or
Recombinant chromosome (rec) gain or material and derivative chromosomes)
A structurally rearranged chromosome with a
new segmental composition resulting from Triradial (tr)
meiotic crossing-over involving a displaced An interchange figure with three chromosome
segment and its normally located counterpart arms
in certain types of structural (inversion or
insertion) heterozygotes Uniparental disomy (upd)
The condition of having both homologs, a
Region chromosome region, or gene from only one
An area of a chromosome lying between two parent
adjacent landmarks.
Regions are numbered outward from the
centromere on both chromosome arms
Stemline (sl)
A term referring to the most basic clone of a
tumor cell population.
2. JACOB
• First geneticist
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
Two types of cell division in eukaryotes Person 1’s left hand (orange watch)
3. Tertiary structure
- Supercoiling – the DNA is supercoiled inside the
nucleus so that it could fit inside
- The DNA is similar to cord protectors
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- 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
1. Transcription Octoploid – 8n
- Process by which the DNA is copied by the messenger - They contain eight
RNA (mRNA) and is transcribed to become a mRNA so
that the message can be brought out of the nucleus The amount of chromosomes or genetic material does not
for processing necessarily with the complexity of the organism
2. Translation - Not because we, humans, have the most complex genetic
- Process wherein the mRNA is transformed into its material, means that we have the greatest number of
peptide or protein product so that it can be used by chromosomes, it does not always correspond
the body Chromosomes are made up of mostly proteins with DNA. The
3. Replication DNA does not always code for useful products like proteins.
- The DNA is semi-conservatively copied so that the Some of them do not even make products, so they are not
copy can be passed on to the daughter cells 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
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o This is the reason why even twins or 4. Transferring of Plasmid – it confers antibiotic
siblings will not be exactly alike because resistance, once it comes in contact with other
even if they inherited the genes from bacteria and underwent transformation, transduction,
their parents, the chromosomes in the or conjugation (any of these), it will transfer its
sex cells of their parents, none of them antibiotic resistance to the other bacteria
are identical.
- Reason why you should finish your antibiotic
o The sperm cell carries a different
chromosome, so the genes are different - Some people who are instructed to take
from the following sperm cell. antibiotics for 7 days, stops from taking it earlier
than 7 days (ex. 3rd day, since during 3rd day there
- Genome size increases roughly with evolutionary
are improvements already). It is possible that not
complexity, thus:
all bacteria were eliminated, the plasmid of the
Eukaryotes > Prokaryotes > Viruses dead bacteria will transfer to the living bacteria.
Eukaryotes have bigger genome size than Resulting to antibiotic resistance.
prokaryotes, prokaryotes have bigger genome size - Also the reason why antibiotics only kill the
than viruses bacteria and not the person because there is a
- Among eukaryotes, no such relationship exists difference between eukaryotic and prokaryotic
❖ Example: Frog VS Human genetics
❖ Even if the frog’s genome is bigger than human’s - Prokaryotes are the basis for tests in determining
genomes, it does not mean that they are more the presence of a particular bacteria
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
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. Lytic phase – usual life cycle of a virus
Slant which can be alkaline or acidic
- To survive, it will lyse, or destroy the host cell
H2S production
The virus will go to a host cell and attaches itself to be
absorb by the host cell (papasok), Upon entry, it will
The difference in prokaryote and eukaryote spells out disassemble and use the genome of the cell to
differences in its characteristics, which is why it dies in replicate
antibiotics, unicellular, prone to die on alcohol only or in it cannot replicate on its own, that’s why it needs
Lysol only and why humans are not affected by these. the host cell as its machinery to produce copies
Also, the reason why we use some enzymes from bacteria of itself
in performing genetic analysis in humans Once it has produced enough copies of the virus, it
PCR (molecular biology) and other tests utilize will destroy the host cell (lyse it) so that it can be
enzymes from prokaryotes because they have released and each one the viruses will infect another
differences and similarities. host