Overview and History of Cytogenetics ● Aristotle proposed that an organism formed through

LECTURER: Mr. Andre Justin F. Villena, RMT sexual reproduction received the substance of the
female egg and a contribution formed by male seminal
COURSE OUTLINE fluid.
● Aura Seminalis by Harvey
I. Introduction to Cytology ○ The combined effect organisms did not
A. History
necessarily involve a material transfer
II. Review of the Cell and its Components
A. Cell Structure between them.
III. Genetics ○ But was assumed through a mystical
A. Application of Genetics influence of the male semen.
B. Traits ● The Theory of Pangenesis comes from Charles Darwin
C. Mendelian Inheritance as he published a paper on it.
D. Genotype vs. Phenotype ○ But the idea can be traced to the Ancient
Greek period, especially to Aristotle’s Concept
LEARNING OBJECTIVES of Heredity.

● Define Cytogenetics Charles Darwin

● Discuss the History of Genetics
● Explain the Scope of Cytogenetics
● Believed that “gemmules” or very small, exact but
visible copies of each body organ and component were
I. INTRODUCTION TO CYTOLOGY transported by the bloodstream to the sex organs and
there they assembled into gametes.
Cytology ● He believed that upon fertilization, gemmules of the
opposite sex were added and all these miniature
● A branch of science which deals with the morphology elements then separated out to different parts of the
and physiology of the cell. body which are in development to constitute a mixture
● “Cyto” meaning cell and “Logy” which means the study of paternal organs and tissues.
of. When combined together cytology essentially ● Preformationalism Theory
means it is the study of the cell as a fundamental unit ○ After the discovery of eggs and sperm, of
of living things. pollen and ova.
○ Many biologists indicated that one of the sex
A. HISTORY cells or gametes, either sperm or egg,
contained within it the entire organism in
Abiogenesis Theory or Spontaneous Generation Theory perfect miniature form.
18th Century ○ The miniature form will be properly nourished
to unfold its preformed adult proportions.
● In the 18th Century, biologists believed that many
organisms could arise spontaneously from various Wolff
combinations of decaying matter.
● Showed that different adult structures of both plants
Biogenesis Theory and animals developed from uniform embryonic
19th Century tissues.
● Many new factors such as tissues and organs arose
● Louis Pasteur put down the idea of spontaneous completely de novo (anew) through mysterious vital
generation. forces.
● Wilhelm John Tyndall showed that the birth of new
organisms arose only through the continuity of life. Von Baer

Aristotle: Theory of Pangenesis ● Proposed that they arose through a gradual

384-322 B.C transformation of increasingly specialized tissues
(epigenesis)
● Proposed that the semen was formed everywhere in
man’s body and such semen reflected the
characteristics of the body part from where it was
formed.
○ He believed that semen traveled through the
produced by these two factors in creating
new blood vessels into the male reproductive
organs.
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Robert Hooke ● Eduard van Beneden
1665 ○ Demonstrated that gametic nuclei contained
half the number of chromosomes of the
● Observed dead cork cells and introduced the term — zygote, from which it could be concluded that
“cell” to describe them. gametogenesis involved some type of
● Cork cells: plant cells which are rectangular in shape reduction division in which maternal and
compared to animal cells which are shaped more paternal chromosomes segregated.
spherically.
● Robert Hooke coined the term cell because the Gregor Mendel
structure he observed in these cork cells reminded him 1865
of cells in the monastery.
● He is considered as the “Father of Genetics”.
Anton Van Leeuwenhoek ● Published a paper in which he described the results of
1764 certain crosses involving garden peas titled
“Experiment in Plant Hybridization”.
● Described many microorganism, blood cells, and ● He discovered that hereditary characteristics were
spermatozoa in detail determined by elementary units transmitted between
generations in uniform predictable fashion.
Jean Baptiste de Lamarck: Theory of Inheritance of Acquired ● He said that the appearance of the different
Characteristics characteristics in heredity followed specific laws that
1801 could be determined by counting the diverse kinds of
offspring produced from any set of crosses.
● Proposed the “Theory of Inheritance of Acquired ● Mendel showed that the hybrid between two paternal
Characteristics” based on the Pangenesis types of garden peas differing in a single characteristic
● This means if an organism changes during its life in would produce two types of gametes in equal
order to adapt to the environment, those changes are numbers.
then passed onto its offspring.
● Inheritance of Acquired Characteristics was intermed 19th Century
of most to be the most fundamental mechanism of
evolutionary change. ● Modern science of genetics became established with
● Example: The neck of a giraffe. According to Lamarck’s the basic concept that hereditary characteristics were
Theory, a giraffe's neck could elongate over a lifetime determined by specific factors, later called genes,
due to straining when trying to reach high branches. which were transmitted from parent to offspring
. through the gametes.
Robert Brown
1831 II. REVIEW: CELL AND ITS COMPONENTS

● Described the nucleus Hierarchy of Biological Organization

August Weismann: Germplasm Theory ● Atoms: tiny building block of all matter
1893 ● Molecules: carbohydrates, proteins, lipids, nucleic
acids
● “Germplasm” or sex cells perpetuate themselves in ● Organelles: miniature systems carrying out functions
reproduction generation after generation. within the cell
● On the other hand, somatoplasm or cells of all the ● Cell: fundamental unit of living organisms
other parts of the body (somatic cells) were produced
by the germplasm only as a means to protect and A. CELL STRUCTURE
reproduce itself.
● Heritable information is transmitted only by germ cells
in the gonads (ovary or testes) not by somatic cells

Matthias Schleiden & Theodor Schwann

1838 & 1839

● Among the first to clearly state that—cells are

fundamental particles of both plants and animals.

Last Two Decades of the 19th Century

● Oscar Hertwig
○ Showed that fertilization involves fusion of
two nuclei, one of which was derived from the
male and other from the female parent. Figure 1. Cell Structure

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Cell Membrane Golgi Apparatus

● A semipermeable membrane acting to protect the ● A stack of flattened sacs and is the packing and
internal structures and assist in cell transport. shipping center of the cell.
● Passive Transport: requires no extra energy to ● It receives all proteins produced by the ER and aids in
transport particles in or out of a cell. transporting them out of the cell.
○ Diffusion
○ Facilitated Diffusion Lysosome
○ Osmosis
○ Filtration ● An organelle likened to an internal waste-management
● Active Transport: requires extra energy in the form of system maintaining cellular health by ingesting and
ATP and a protein to carry molecules across an area destroying invading organisms.
already fully concentrated
○ Endocytosis Accessory structures
○ Phagocytosis
○ Pinocytosis ● Flagella: used to propel entire cell for locomotion
○ Exocytosis ● Cilia: hair like structure used to propel objects from the
surface of certain specialized cells such as in the
Cytoplasm bronchi or in the fallopian tube.

● The internal formative material needed for cell survival. II. GENETICS
● Cytosol: liquid matrix that suspends all organelles.
● It is the study of heredity, the process in which parents
Nucleus pass certain genes to their children
● Traits are expressed by genes which are small sections
● The brain of the cell that dictates the activities of the of DNA that are coded for specific traits.
organelles within the cell. ● Genes are found on chromosomes.
● Chromatin: material found in the nucleus that contains ● Humans have two sets of 23 Chromosomes, one set
the DNA material or “blueprint” needed to make new from each parent for a total of 46 Chromosomes.
cells
● Nucleolus: an orbital structure located within the
nucleus that synthesizes RNA and ribosomes, the A. APPLICATION OF GENETICS
organelles responsible for getting the materials
needed to work on cellular infrastructure using our Plant and Animal Improvement
genetic blueprints.
● By knowing the genetic buildup of plants, farmers can
Ribosomes better conserve or increase production of certain
plants.
● Organelle composed of one-part RNA and one-part ● For the genetic improvements for animals, on the other
enzyme. hand, this mainly focuses on animal breeding.
● Found singly in cytoplasm or on the endoplasmic ● High yielding and pest-resistant varieties of rice, corn,
reticulum, the site of cell repair and reproduction. sorghum, and wheat, have been the most important
factors in the successes of the Green Revolution
Centrosomes Movement in many countries.
● The advances in meat production of cattle, swine, and
● The general area containing centrioles. poultry through breeding, have also supplied the
● These are organelles needed to prepare for the protein needs of the ever growing population.
construction of new cells during mitosis.
Medicine
Mitochondria
● Genetics can help healthcare professionals identify
● The powerhouse of the cell or the cellular power plant. certain conditions on babies before they are even born,
● It generates the body’s energy needs by supplying ATP using techniques, such as Prenatal Testing.
for body processes through the process of cellular ● Genetic developments are also used to help develop
respiration. targeted medicine for certain diseases.

Endoplasmic Reticulum Genetic Counseling

● Rough ER: contains ribosomes, site of protein ● In instances where you feel your child may get a
synthesis certain disease because your relatives have suffered
● Smooth ER: have no ribosomes, and synthesizes fats from it, you can go to genetic counselling.
and steroids. ○ That is why before you get married it is
advised to get to know the roots of your
spouse, and check their family’s medical
history. This helps you somehow know what
to expect what your future babies may have.

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Legal Applications ● The dominant trait overpowers the recessive trait
because the presence of something will always have
● DNA results when you want to determine whether or more weight than the absence of something.
not the child is actually yours. ○ Mom: F (dominant allele)
● Police using genetic fingerprinting to catch criminals. ○ Dad: f (recessive)
Criminals often leave evidence such as hair follicles, ○ Conclusion: The child will have freckles.
blood, or skin cells. For this, the police can use genetic
information to determine whether or not the criminal is Chromosome
actually present at the scene of a crime.
● In the nucleus of each cell, a DNA molecule is tightly
Genetic Engineering packed into thread-like structures of chromosomes.
● DNA molecules coil around proteins called histones
● Is a process that uses laboratory-based technologies that support its structure.
to alter the DNA makeup of an organism. ● Not visible under a microscope when the cell is not
● Used to mass produce insulin for those suffering with dividing.
diabetes. ● DNA that makes up the chromosome becomes more
● Production of human growth hormones (HGH) to treat tightly packed during cell division and is visible under
infertility. the microscope.
● Production of vaccines and many other drugs. ● Centromere
○ The constriction point that divides the
B. TRAITS chromosome into 2 sections or “arms”
○ p arm: short arm
● A genetically determined quality or characteristic of a ○ q arm: long arm ; gives the chromosome its
person. shape

Monogenic and Polygenic Traits Alleles

● Monogenic Traits ● A variant form of a gene

○ Controlled by one gene ● Some genes have a variety of different forms which are
○ For example, people who inherit freckles or located at the same position or genetic locus on a
cleft chins; you either have them or you don’t. chromosome
● Polygenic Traits ● Humans are diploid organisms
○ Controlled by two genes, it has many possible ○ They have 2 alleles at each genetic locus,
outcomes where 1 allele is inherited from each parent.
○ Examples are height or eye colors. ○ Each pair of alleles represent the genotype of
a specific gene.
○ It contributes to the outward appearance of
the organism.

D. GENOTYPE VS PHENOTYPE

Genotype

● Refers to the pair of alleles (the letters)

● Exact pairing of the alleles.
○ Example: B - blue eyes, b - green eyes
○ Possible genotypes: BB, Bb, bb
Figure 2. Monogenic Traits vs. Polygenic Traits ■ Doesn’t concern itself with the
expression, it only concerns itself
C. MENDELIAN INHERITANCE with the pairing.

● Proposed by Gregor Mendel in 1865-1866. Genetic Composition of Genotypes

● The inherited traits are determined by genes that are
passed from parents to children. ● Homozygous Alleles: 2 identical things
○ A child inherits two sets of genes—one from ● Heterozygous Alleles: 2 different things that differ at a
each parent. particular locus
● A trait may not be observable, but its gene can be ● When applied to alleles:
passed to the next generation. ○ bb = homozygous recessive
○ BB = homozygous dominant
Example: Two alleles in the gene for freckles are inherited from ○ Bb = heterozygous
mom and dad ■ Uppercase = Dominant
■ Lowercase = Recessive
● The allele of the mom has freckles while the allele from ■ Different Alleles = Heterozygous
the dad has no freckles.
● The allele from the mom is dominant while the allele
from the dad is recessive.

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Phenotype

● Refers to the expression of the trait.

● What it looks like after the combination.
● It is not concerned with the pairings of alleles

Dominant vs Recessive Alleles

● Dominant trait will always win over the recessive trait

● An individual receives two versions of a gene from
each parent:
○ Dominant: If alleles of the gene are different,
the dominant gene will be expressed.
○ Recessive: usually masked.
● Example: B - blue eyes, b - green eyes
○ Possible genotypes for blue eyes are only BB
and Bb:
■ BB is homozygous dominant.
■ Bb is heterozygous. But only the
dominant trait, “B” or having blue
eyes, is expressed while the
recessive trait, “b” or having green
eyes, is masked.

REFERENCES

● Gersen, S. L. & Keagle, M.B. (2013) The Principles of

Clinical Cytogenetics: Third edition
● Wilson, G.B. & Morrison, J.H. (1961) Cytology
● Kramer, C. & Patel, H. Genetics in Everyday Life
● Sharp, Lester W. (Lester Whyland), b. 1887 An
Introduction to Cytology
● Cytogenetics Laboratory Manual