Overview and History of

Cytogenetics
Dexter Giovanni Arellano Andales, RMT, MD, MBA, FPCP, FPSGIM
Associate Professor in Gross Human Anatomy
University of Cebu College of Medicine Foundation Incorporated
University of Cebu College of Medical Technology
HISTORY OF CLINICAL CYTOGENETICS
Walther Flemming • Austrian cytologist
• professor of anatomy
• published the first illustrations of
human chromosomes in 1882
• referred to the stainable portion
of the nucleus as chromatin
• first used the term mitosis
Walter Sutton • combined the disciplines of
cytology and genetics when he
referred to the study of
chromosomes as cytogenetics
• formally developed a
“chromosome theory of
inheritance”
 Definition of terms
• 1.1. Genetics
• 1.2. Heredity
• 1.3. Variation
• 1.4. Genes
• 1.5. Chromosome
• 1.6. mutation
• 1.7. species
• 1.8. evolution
• 1.9. natural selection
 GENETICS
• Study of heredity and variation

• Attempts to explain the mechanism and the basis for

both similarities and differences between related
individuals

• Explanation for the tremendous variation one

encounters in all forms of life
 HEREDITY
• Is the cause of the similarities between
individuals

• The reason that brothers and sisters with the

same parents resemble each other
 VA R I AT I O N
• Is the cause of the differences between
individuals

• Is the reason that brothers and sisters who do

resemble each other are still unique individuals
 GENES
• the basic physical and functional unit of heredity
• made up of DNA
• is a sequence of nucleotides in DNA or RNA that
codes for a molecule that has a function
• Every person has two copies of each gene, one
inherited from each parent
 CHROMOSOME
• the DNA molecule is
packaged into thread-like
structures found in the
nucleus of each cell
• is made up of DNA tightly
coiled many times
around proteins called
histones that support its
structure.
 M U TAT I O N
• as a process that creates genetic variation

• alteration of the nucleotide sequence of the

genome of an organism, virus, or
extrachromosomal DNA
 SPECIES
• is the basic unit of classification and a taxonomic
rank of an organism, as well as a unit of
biodiversity

• “a group of interbreeding natural populations

that is reproductively isolated from other such
groups”
 EVOLUTION

• is change in the heritable characteristics of

biological populations over successive
generations
 N AT U R A L S E L E C T I O N
• is the differential survival and reproduction of
individuals due to differences in phenotype.

• It is a key mechanism of evolution, the change in

the heritable traits characteristic of a population
over generations
• 2. Review: Cell and its components
• Cell
• the basic functional component of the body

• nucleus
• repository of the vast majority of the
genetic information of that individual
• centre of activity involving its expression

• plasma membrane, or plasmalemma

• is a barrier to water soluble molecules
• defines the interface between the interior
and exterior of the cell

• Microvilli
• are extensions of the apical plasmalemma
that provide an increased surface for
molecular exchange
 Plasmalemma

• a double, side-by-side array of

phospholipid molecules forming a
sheet of hydrophobic lipid
sandwiched between two sheets of
hydrophilic phosphate groups
• variety of proteins positioned with
their hydrophobic regions within the
lipid interior and their hydrophilic
regions at either surface.
 NUCLEUS
• genetic information is carried on the
chromosomes suspended in the
nuclear matrix
• Nuclear cortex
• is a mesh of proteinaceous material
densest close to the nuclear envelope
• nucleolus
• is a morphologically distinct region within
the nucleus specialized for production of
ribonucleic acid components of the
ribosomes (rRNA).
• A typical human nucleus contains a single
large nucleolus, which at contains the
nucleolar organizer regions of the
acrocentric chromosomes
• is bounded by a double membrane
called the nuclear envelope, perforated
by nuclear pores
 CYTOPLASM
• Consists of a gel-like a material called
the cytosol.

• contains deposits of glycogen, lipid

droplets and free ribosomes

• is permeated by an array of
interconnected filaments and tubules
that form the cytoskeleton
 3 major structural elements
(cytoskeleton)
• Microtubules
• Microfilaments
• double-stranded polymers of the
protein actin distributed mainly near
the cell periphery and involved in cell
movement and change of cell shape
• intermediate filaments
• are tubular structures that link the
desmosomes
• They are composed of one of five or
more different proteins, depending on
cell type.
 MICROTUBULES
• straight tubes built from alternating
molecules of α- and β-tubulin
• radiate from a structure called the
centrosome, which contains a pair of
cylindrical structures called
centrioles (with a characteristic nine-
unit structure)
• is important in the maintenance of
cell shape, separation of the
chromosomes during cell division
and movement of cilia and sperm
 MITOCHONDRIA
• the largest and most abundant of the
cytoplasmic organelles
• main function: production of energy
through synthesis of ATP
• Semiautonomous and self-
replicating, each containing
ribosomes and up to 10 or more
copies of a circular strand of
mitochondrial DNA carrying the
mitochondrial genes
• They contain the enzymes of the
tricarboxylic acid (TCA) cycle and a
major fraction of those involved in
the oxidation of fatty acids
 LY S O S O M E S
• are cytoplasmic organelles
specialized in the deconstruction of
many types of complex molecules,
damaged mitochondria, viruses
and bacteria, etc.
• that arise as offshoots of the Golgi
apparatus (or Golgi complex)

PEROXISOMES
• are partially responsible for
detoxification of foreign
compounds such as ethanol, but
their major role is the oxidation of
fatty acids
 ENDOPLASMIC RETICULUM (ER)
• is a major site of protein and lipid synthesis
• represents the beginning of the secretion
pathway for proteins
• bulky maze of membrane-bound channels
continuous with the nuclear envelope
• Close to the nucleus it holds bound
ribosomes and is known as ‘rough ER’
• Away from the nucleus it lacks ribosomes
and is called ‘smooth ER’
• also plays a role in neutralizing toxins
• Proteins synthesized in the ER are passed to
the Golgi complex for further processing
GOLGI APPARATUS / GOLGI COMPLEX
• a series of stacked, flattened vesicles
• are then collected in storage vesicles or
secretory vesicles for exocytosis
• 3. Concepts of Genetics
• 3.1. Traits
• 3.1.1. Monogenic Trait
• 3.1.2. Polygenic Trait
• 3.1.3. Mendelian Trait
• 3.2. Chromosomes
• 3.3. Alleles
• 3.4. Genetic Composition:
 M O N O G E N I C V S P O LYG E N I C T R A I T
MONOGENIC TRAIT
• is a characteristic that is
produced by a single gene or a
single allele.
• Ex: eye color or the ability to roll
your tongue
POLYGENIC TRAIT
• is a characteristic controlled by
two or more genes that are
located at different areas on
different chromosomes
• Ex: height and weight - many
genes are involved in the
expression of these traits.
 MENDELIAN TRAITS
• traits which follow Mendel's rules of only 2 possible
versions of a gene (1 dominant, 1 recessive)

• Mendelian traits behave according to the model of

monogenic or simple gene inheritance in which one
gene corresponds to one trait.
 CHROMOSOMES

• thread-like structures in the cell nucleus where the DNA is packaged

• Each chromosome is made up of DNA tightly coiled many times around
proteins (histones)
• not visible in the cell’s nucleus when the cell is not dividing
• the DNA that makes up chromosomes becomes more tightly packed during
cell division and is then visible under a microscope
• constriction point called the centromere, which divides the chromosome
into two sections, or “arms.”
• The short arm of the chromosome is labeled the “p arm.”
• The long arm of the chromosome is labeled the “q arm.”
• In humans, each cell normally
contains 23 pairs of chromosomes,
for a total of 46.
• Twenty-two of these pairs, called
autosomes, look the same in both
males and females.
• The 23rd pair, the sex
chromosomes, differ between
males and females.
• Females: 2 copies of X chromosome
• Males: 1 X and 1 Y chromosome
• human chromosomes lined up in
pairs is called a karyotype.
ALLELES
• An allele is a variant form of a
given gene
• Since human cells carry two
copies of each chromosome they
have two versions of each gene.
• These different versions of a
gene are called alleles
• can be either dominant or
recessive
 GENETIC COMPOSITION
(HOMOZYGOUS VS HETEROZYGOUS)
H O M OZYG O U S G E N OT Y P E H E T E ROZ YG O U S G E N OT Y P E

• Recessive alleles only show their • Dominant alleles show their

effect if the individual has two effect even if the individual only
copies of the allele has one copy of the allele

• E.g.: the allele for blue eyes is • E.g.: the allele for brown eyes is
recessive, therefore to have blue dominant, therefore you only
eyes you need to have two need one copy of the 'brown
copies of the 'blue eye' allele. eye' allele to have brown eyes
 CODOMINANCE
• both alleles are dominant

• The resulting characteristic is due to both alleles being

expressed equally

• E.g.: blood group AB which is the result of

codominance of the A and B dominant alleles.
• Genotype
• 3.4.1. homozygous
• 3.4.2. heterozygous
• 3.5. Genetic appearance: Phenotype
• 3.5.1. dominant
• 3.5.2. recessive
• 3.5.3. co-dominant
• . Birth and Progress of Human Cytogenetics
• 4.1. Human chromosome morphology
• 4.2. Banding pattern of chromosomes