CYTOGENETICS
A branch of genetics that studies the function of the
cell, specifically chromosomes, in the process of
inheritance
Additional notes: functions of chromosomes and kung
pano napapasa yung mga genetic materials from
parents to offspring.
Walther Flemming
• Described the chromosomes using
salamander.
• The number of human chromosomes was
mistakenly identified to 48
Additional Notes: 23 pairs/46 chromosomes - 22
autosomal chromosomes, 1 – sex chromosomes
1956 - Generally accepted that human karyotype
included only 46, not 48.
• Structure of chromosomes
• Abnormality in structures
• Down syndrome – not a psychological
problem. Fails in maturing.
Karyotyping
Additional Notes: visualize the structure of
chromosomes.
• One of the most basic technique in genetics.
• Refers to the routine analysis of chromosomes at
the metaphase stage which have been banded
using “trypsin” followed by “Giemsa stain”,
“Leishman stain” or a combination of two.
Additional Notes:
• XX female, XY Male
• 22 pairs are autosomal – it means body.
• 23rd pair sex chromosomes, the x and y
chromosomes.
Fluorescent in-situ hybridization (FISH)
Additional notes:
• Probes are the red ones, yellow ones are
chromosomes.
• Why do they attach? Because we want to see if
the chromosome has an abnormality/ a sequence
isn’t okay.
• Refers to the cytogenetic technique that uses
fluorescent probes that attaches to specific areas in
the chromosomes with high degree of sequence
complementarity.
• It is used to detect and localized the presence or
absence of specific DNA sequences.
• This can be used to determined the possible cause of
a child’s developmental disability, identify pathogens
that do not grow well in laboratory conditions and
even infer evolutionary relationships
Additional Notes: Down Syndrome, Patau Syndrome,
Jacob Syndrome > highly possible that the child may
get this if one of our chromosomes is affected.
Chromosome 1 is affected the doctor may get an idea
of what the disease could be.
Additional Notes:
• Karyotyping -> we need to arrange
them(chromosome) from 1 to 22, autosomal
and the 23rd, sex chromosomes.
DNA Microarray Analysis
Our Sample is: RNA
 • Microarrays can also be used to study the
extent to which certain genes are turned on or
off in cells and tissues.
• In this case, instead of isolating DNA from the
samples, RNA (which is a transcript of the
DNA) is isolated and measured.
• Today, DNA microarrays are used in clinical
diagnostic tests for some diseases.
• Are organized structures containing the DNA
of an organism associated with the structural
protein called histones and other factors that
help maintain its integrity and facilitate its
formation and replication.

Common Genus and Diploid

Name species Chromosome
Number
Additional Notes: Buffalo Bison bison 60
Cat Felis catus 38
• In this picture/image, we have normal cells and Cattle Bos taurus 60
cancer cells as an example. Like what I’ve said Bos indicus
earlier, our sample is RNA. So we will be having Dog Canis familiaris 78
RNA isolation. So what type of RNA we isolate? Donkey Equus asinus 62
MRNA - messenger rna. This messenger RNA will Goat Capra hircus 60
undergo reverse transcriptase labeling by using Horse Equus caballus 64
CDNA(complimentary DNA). In genetics, CDNA is Human Homo sapien 46
DNA synthesized in/from a single RNA. Pig Sus scrofa 37
• For example, MRNA or micro RNA template in Sheep Ovis aries 54
reaction catalyzed by the enzyme reverse IMPORTANT!! MIGHT COME OUT IN OUR EXAMS.
transcriptase. Polyploidy
• Reverse transcriptase – it will reverse the
reaction of the transcription process. • Having multiple sets of chromosomes.
• From DNA replication to MRNA converted -> Additional Notes: Poly means many.
specific type of proteins.
• DNA to MRNA – transcription. Homologous Chromosomes
• MRNA to protein – translation.
• MRNA to DNA – reverse transcription
• IF there’s already a DNA sample, they can process
replication.

Chromosomes

Additional Notes:

• DNA – genetic blueprint of an individual.

• Chromosomes contains our DNA.
• Histones – prevents DNA from being tangled and Additional Notes:
also protects it from DNA damage.
• If the DNA is damaged, there might be genetic • This chromosome has specific parts. First we
abnormalities. have, Telomere – the tip of the
chromosomes.
 • Sister Chromatids – the 2 parts of our (3) Stages of Cell Division
chromosomes, we have the p arm (short) and
1. G1 (Gap 1)
q arm (long)
2. Synthesis
• Centromere – center of the chromosomes
3. G2 (Gap 2)
• Non sister chromatids – different arm of the 2
chromosomes. Interphase

Note: • Linear chromosomes found among eukaryotes Additional notes: can’t proceed to s phase without
(cells with nucleus). amino acid.

• Prokaryotes have circular DNA and is found in the Sub-phase Processes

nucleoid region. Gap 1 Growth phase. synthesis
of amino acids (A.A) and
Borrelia burgdorferi other biochemical
Additional Notes: needed for S phase.
S phase (Synthesis) DNA in chromosomes
• Most commonly spread by ticks > ixodes are replicated.
• Symtomps : red rash (erythema migrans) Gap 2 (G2) Synthesis of chemicals
Itchy and painful. needed for the
• Causative agent of Lyme disease. production of
microtubules.
• Contains linear chromosome; Hinnebusch and
M Phase (Mitosis Phase)
Tilly, 1993
Additional notes: TO form two separate daughter
cells immediately after mitosis ( division of
cytoplasm).

• The dividing stage.

(2) stages:

1. Karyokinesis – division of the nucleus ( 1st step in

m phase).
2. Cytokinesis – division of cytoplasm (2nd stage of m
phase).

Sub-phase Processes
Cellular Division Karyokinesis Division of the nucleus.
(1st step in M phase)
1. Prophase - Cytokinesis Division of the
2. Prometaphase cytoplasm to form two
3. Metaphase separate daughter cells
4. Anaphase immediately after
5. Telophase mitosis. (2nd stage of M
6. Cytokinesis phase)

Gap 0 or G0 Phase - The resting or quiescent phase.

Mitosis
Additional notes: inactive/non-cycling state
• Nuclear division.
Interphase
• (2) types:
Additional notes: preparing for the genetic process.
Nagreready mga genetic materials. 1. Somatic cells (blood cells, epithelial cells, bone
cells, and other differentiated cells).
• The non-dividing stage of the cell. 2. Reproductive cells (sperm cells and egg
• The longest stage in eukaryote cell division cells/ovum).
Stages of Mitosis • For example rubber band, you’re pulling from the
opposite direction that’s what happen in genetic
1. Prophase
materials. This is also where cleavage appears
2. Metaphase
3. Anaphase Telophase
4. Telophase
• The nuclear membrane reappears.
Prophase • The DNA begin to diffuse into the nucleus.
• Nucleoli reappears.
• The nuclear membrane begin to disintegrate.
• Nucleoli disappear. Meiosis
• DNA begin to supercoil and appear as
• A course of double division producing (4) daughter
chromosomes. - +DNA bawal masyado maging
cells with half the number of chromosomes as that
super coil kasi ang kanyang structure ay di
of the parent cells.
talaga supercoil.
• This chromosome number is referred as “haploid”
Metaphase in contrast to the parent cell which is “diploid”.
• Necessary for the sexual reproduction among
Additional Notes:
eukaryotes.
• Kinetochore – microtubules that bind
Additional Notes:
chromosomes.
• Kineto – move. Chore – move/spread. • Can be divided into 9 stages. These are divided
• Each chromosomes they have 2 kinetochore. between the first time of the cell.
• Chromosomes appear as sister chromatids • Meiosis I and Meiosis II
attached together at the centromere, • First we have, interphase
containing the kinetochore. • Prophase I
• Centrioles appear on the both poles of the • Anaphase I – chromosomes line up in the equator
cells. • Anaphase I – chromosomes are pulled apart
• Spindle fibers appear and attached to the • Telephase 1 and cytokinesis – cell pinches in the
kinetochores. middle. This is also the division of cytoplasm.
• Chromosomes align at the center of the cell. • Prophase II – 2 daughter cells
They are ready to pull out. • Metaphase II – the chromosomes aline in the
equator
• Anaphase II – sister chromatids are pulled apart
• Telophase 2 and cytokinesis – this is the cell
pinches in the middle and they are able to
produce 2 daughter cells.
• That’s why in meiosis we’re able to produce 4
daughter cells because we have 2 daughter cells
in prophase 2 and after ng telophase
makakapagproduce ulit ng 2 daughter cells.

Chiasmata
Centromere
• A point of overlap of paired chromatids at
Kinetochore (microtubes that bind chromosomes) which fusion and exchange of genetic material
Anaphase takes place during prophase of meiosis.

• Sister chromatids are pulled towards opposite Additional Notes: Overlapping causes genetic
poles. transferring of material. For example yung green
mapupunta kay yellow, sa baba naman makukuha
Additional notes: nya yung genetic material ni yellow.
 Pachytene - Crossing over happens.

- The paired chromosomes shorten and thicken,

the two chromatids of each separate, and
exchange of segments between chromatids may
occur.

Additional notes: magpapalit ng genetic material

Additional Notes: Magkakaroon ng crossover ng
Sub-stages of Prophase mga chromatids. Since nagkaroon ng cross over,
pwede sila magpalit ng segment
• Leptotene
• Zygotene
• Pachytene
• Diplotene
• Diakinesis
Diplotene
Leptotene
• Chromosomes separate slightly.
• The first stage of the prophase of meiosis, during • The paired chromosomes begin to separate
which each chromosome becomes visible as two into two pairs of chromatids.
fine threads (chromatids) within the nucleus
Additional Notes: separation of chromosomes.

Diakenesis
Additional info: chromatids – blue, purple • Nucleolus disappear.
zygotene. • Nuclear envelope disintegrate completely.
Zygotene - Homologous chromosomes pair up during • Spindle fibers begin to form.
synapsis. Additional Notes: Genetic transfer is possible within
the chromatids. They’re exchanging portions with their
arms.

Additional Info: For example, we can find

them in nucleus, so yung ating mga
chromaticds nagkakaroon ng pairing.
 Propha Prometa Metaph Anapha Teloph
se phase ase se ase

Spindle Fibers
Chromos Chromoso Chromos Centrome Chromos
• They are chiefly involved in moving and omes mes omes are res split omes
segregating the chromosomes during nuclear condense continue to lined up in two arrive at
division. and condense at the opposite
become metaphas Sister poles
• Spindle fibers are made up of microtubules visible Kinetochor e plate chromati and
es appear ds (now begin to
Additional Notes: During the separation of Spindle at the Each called deconde
chromosomes, meron tayong spindler fiber which is fibers centromere sister chromos nse
composed of microtubules and these microtubules emerge s chromati omes)
from the d is are Nuclear
connects the chromosomes. centroso Mitotic attached pulled envelope
mes spindle to a toward material
microtubul spindle opposite surround
Nuclear es attach to fiber poles s each
envelope kinetochor originatin set of
breaks es g from Certain chromos
down opposite spindle omes
poles fibers
Centroso begin to The
mes elongate mitotic
move the cell spindle
toward breaks
opposite down
poles
Spindle
Note: fibers
continue
• Meiosis I = Reductional Phase to push
polers
• Meiosis II = Equational Phase
apart
Additional Notes: