LECTURE

CYTOLOGY AND GENETICS 1

Mavis P. Dakorah (PhD)

Medical Laboratory Department
University of Cape Coast
 Presentation outline 2

What we will learn

Definition, history, and scope of cytology and genetics

Importance of cytology and genetics in biology and medicine

Overview of cell theory and Mendelian genetics

 Definition, history, and scope of cytology 3

What is cytology

 Cyto (Greek word) = cell

 ology = a subject of study
 Cytology = Study of a cell
the study of the structure and function of a cell and its
organelles
 Definition, history, and scope of cytology
4
Cells are the fundamental unit of living things--they
are the smallest structures that show all the features
of living things.
Cannot be seen by a naked eye
 Each cell is a complex system consisting of many
different building blocks enclosed in membrane bag
cell sizes may vary depending on the cell type
the diameter of animal and plant cells are between 10 and
100 microns.
Numbers: can be unicellular (consisting only of one
cell- bacteria and yeast) and multicellular organisms
 HISTORY - EARLIER CONCEPTS OF CYTOLOGY 5

The Era before Christ (BC)

Metaxenia:
• used by Assyrians and Babylonians to developed date-palm varieties
• It describes the effect of pollen parent on the fruit shape and other
characteristics

Theory of acquired characteristics

• by Hypocrates (400 B.C.)
• According to this theory, children will inherit this character of parents
 HISTORY - EARLIER CONCEPTS OF CYTOLOGY 6
After the death of Christ
• Theory of Spontaneous Generation (1600):
- First propagated by Greek philosopher Aristotle (384–322 BC)
- organisms originated from non-living matter if the material contained pneuma (“vital heat”)
- e.g seemingly sudden appearance of fish in a new puddle of water
- mice simply appeared among grain stored in barns with thatched roofs
- Supported by Jan Baptista van Helmont - mice could arise from rags and wheat kernels left in an open
container for 3 weeks.

- In 1745, John Needham (1713–1781 briefly boiled broth infused with plant or animal matter, hoping to kill
all preexisting microbes. He then sealed the flasks. After a few days, Needham observed that the broth had
become cloudy and a single drop contained numerous microscopic creatures. He argued that the new
microbes must have arisen spontaneously. In reality, however, he likely did not boil the broth enough to kill
all preexisting microbes.
- disproved by the experiments of Redi (1621 – 1697), Spallanzani (1729 –1799). And Pasteur
 HISTORY - EARLIER CONCEPTS OF CYTOLOGY 7
- Redi (1621 – 1697)
- He predicted that preventing
flies from having direct contact
with the meat would also
prevent the appearance of
maggots. Redi left meat in each
of six containers

- Two were open to the air, two

were covered with gauze, and
two were tightly sealed. His
hypothesis was supported when
maggots developed in the
uncovered jars, but no maggots
appeared in either the gauze-
covered or the tightly sealed
jars.
 HISTORY - EARLIER CONCEPTS OF CYTOLOGY 8
- Lazzaro Spallanzani (1729–1799) did not agree with Needham’s conclusions,
however, and performed hundreds of carefully executed experiments using
heated broth.

- As in Needham’s experiment, broth in sealed jars and unsealed jars was infused
with plant and animal matter.

- Spallanzani’s results contradicted the findings of Needham: Heated but sealed

flasks remained clear, without any signs of spontaneous growth, unless the
flasks were subsequently opened to the air.

- This suggested that microbes were introduced into these flasks from the air.
 HISTORY - EARLIER CONCEPTS OF CYTOLOGY 9
• In 1858, Pasteur filtered air through a gun-
cotton filter and, upon microscopic
examination of the cotton, found it full of
microorganisms, suggesting that
the exposure of a broth to air was not
introducing a “life force” to the broth but
rather airborne microorganisms.

• Pasteur made a series of flasks with long,

twisted necks (“swan-neck” flasks), in
which he boiled broth to sterilize it.

• Postulate : “Omne vivum ex vivo” (“Life

only comes from life”)
 HISTORY - EARLIER CONCEPTS OF CYTOLOGY 10
• Preformation theory: Propagated by Swammerdam

- According to preformation theory, the egg or sperm contains the miniature

copy of adult called homunculus which later enlarges during
development

- Implied that all traits would be inherited from only one parent

Epigenesis concept of Wolff:

- proposed that during early stages of development the embryonic tissues

are composed of cells similar in structure and function which later
differentiate into adult tissues and organs.
 HISTORY - EARLIER CONCEPTS OF CYTOLOGY 11
• Inheritance of Acquired characters or Lamarckism: (1744 –1829)
• First propagated by Hypocrates.- life births its kind
• proposed that characters acquired by individuals of one generation are transmitted
to those in the next generation. According to this theory, if a person develops
strong muscles by physical exercise, his children will inherit this character

Pangenesis theory of Charles Darwin (1868)

- the particles called gemmules or pangenes carry information from various parts
of the body to the reproductive organs which are transmitted through the gametes to
its progeny and will produce a similar modification in the corresponding organ of the
progeny

- Disproved by Weismann
 HISTORY - EARLIER CONCEPTS OF CYTOLOGY 12
• The Germplasm Theory or Weismannism
- August Weismann
- proposed the germplasm theory and explained
that the cells in the reproductive organs carry the
complete set of genetic information that is
passed to the gametes and hence the changes
taking place in the germplasm are transmitted to
the next generation.

- He cut-off the tails of a group of mice for 22

successive generations and showed that the tail
length remained same in all the descendants.
 CELL THEORY: 13
• Cell theory was proposed in 1839
• states that all plants and animals are constructed from small fundamental
units called cells, and that all cells arise from preexisting cells

• Contributions to Cell Theory

• A Dutch lens maker, Antony van Leeuwenhoek crafted the
microscopes in the 1600s.
• observed the movements of Protista - bacteria and protozoa (a type of
single-celled organism) and sperm
• In 1675, Anton van Leeuwenhoek, first reported observations of
living cells which he called "animalcules".
 CELL THEORY: 14
B
A•
 CELL THEORY:
15
• Contributions to Cell Theory
- Robert Hooke coined the term “cell” for the box-like structures he
observed when viewing cork tissue (resembling blocks of cells
occupied by monks)
- Two hundred years later
- In 1827 they were used by Scottish botanist Robert Brown to
demonstrate the ubiquity of the cell nucleus, a term he coined in
1831
- By the late 1838s, botanist Matthias Schleiden (plants) and
zoologist Theodor Schwann were studying tissues and proposed
the unified cell theory.
- Rudolf Virchow: “Omnis cellula e cellula”… “All cells only arise from pre-
existing cells.
 Cell Theory Postulates 16

 All Animal and plant are made up

of cells

A cell is a basic unit structure and

function in all living organisms

All cells arise from pre-existing

cells by cell division
 TYPES OF CELLS 17
 two basic types of cells
 Eukaryotes cells and Prokaryotes cells based on their fundamental cell structure.

 The term ‘prokaryote’ is derived from the Greek word's ‘pro’, meaning ‘before’ and ‘karyon’,
meaning ‘kernel’. Together it means ‘before nuclei’.

 eukaryotes are advanced organisms with a well-defined nucleus and membrane-bound

organelles. The term ‘eukaryotes’ is derived from the Greek words ‘eu’, meaning ‘good’ and
‘karyon’, meaning ‘kernel’, meaning ‘true nuclei’.

 The eukaryotes are thought to have originated from the prokaryotes about 2.7 billion years
ago.
 CELL VARIATIONS 18
• Cells are not all alike; in fact, they can be wildly different.
• There may be up to 100 million distinct species of living things
on our planet.
• Cells vary just as widely in their:
a. Shape
b. Size
c. Complexity
d. Chemical requirements: Some require oxygen to live; for
others this gas is deadly

• These differences in size, shape, and chemical requirements

TYPES OF CELLS 19
20
TYPES OF CELLS 21
 CAVIAT : If cells are the fundamental unit of living matter, then nothing less
than a cell can truly be called living.

• Viruses, for example, are compact packages of genetic information—in the form
of DNA or RNA—encased in protein but they have no ability to reproduce
themselves by their own efforts
• Instead, they get themselves copied by parasitizing the reproductive machinery of
the cells that they invade.

• Thus, they are inert and inactive outside their host cells, but they can exert a
malign control over a cell once they gain entry.
22
GENETICS 23
 GENETICS 24

• Genetics is a science which deals with the study of genes,

1 principles of heredity and genetic variation
.
• Heredity – the process where genetic information are passed
A on from parents to progeny
.
B • Inheritance- the transmitted genetic information
.
• Variation- the differences among individuals of the same
C species
.
 DEFINITION, HISTORY, AND SCOPE OF GENETICS 25
The study of the deals with traits (characteristics/attributes). E.g. hair color, skin color,
heights

Coding Sections of the DNA are called Genes

Genes indicate a specific sequences of nucleotides that code for particular proteins to
show a particular character.
All genes are in pairs (one from each parent)
Each single strand of the DNA is known as Allele (The different forms of a gene )
 The set of all genes that specify an organism’s traits is known as the organism’s genome.
 The gene composition of a living organism is its genotype
Genes are Homologous – of the same size, structure and code for similar proteins thus
expressing similar characters)
 DEFINITION, HISTORY, AND SCOPE OF GENETICS 26
 The two paired alleles in an organism’s genotype may be identical, or they may be different
 Homozygous- when two identical alleles are present for a particular characteristic
the alleles express themselves

 Heterozygous - when two different alleles are present for a particular characteristic
the alleles may interact with one another, and in many cases, only one allele is
expressed.
the one expressing itself is the dominant allele.
the “overshadowed” allele is the recessive allele
SCOPE OF GENETICS 27

Transmission genetics: Transmission genetics deals with the study of

passage of characters from one generation to the next.

Molecular genetics: Molecular genetics involves the study of the

biochemical nature of the gene, its structure, organization, and function at
molecular level e.g. cellular processes of replication, transcription, and
translation and also gene regulation.

Population genetics: Population genetics is the study of the variation of

genes between and within populations of a species and its changes over
time and space e.g. Study of drug resistance
 HISTORY OF GENETICS 28
• Augustinian monk called Gregor John Mendel
• Born in Brunn in Austria in 1822
• He worked with Pisum Sativum (Garden pea)
• His writings were published in 1866 but his experiments were presented at the
Natural History Society of Brunn in 1865
• Formulated the laws of inheritance
• Died in 1884
• Gregor Mendel developed the science of genetics from 1860s and 1870s
• was the first scientist to explain the mechanism of inheritance even before the
discovery of existence of chromosomes.

• He is referred to as the ‘Father of Genetics’ after the importance of his work

was realized in 1900
HISTORY OF GENETICS- THE PERCEPTION 29
• Mendel believed that factors pass from parents to their offspring

• was the first scientist to develop a method for predicting the outcome of
inheritance patterns

• He performed his work with pea plants, studying experiment was based on
selected defined traits (seven traits): plant height, pod shape, pod color,
seed shape, seed color, flower color, and flower location.

• interpret the observed patterns of inheritance by assuming that each trait

is determined by a pair of inherited factors, which are now called genes.
PEA PLANT EXPERIMENT 30

Some pea plants develop individuals that are homozygous for particular
characteristics. These populations are known as pure lines.

Why pea plant :

(i) It has a short life cycle, which makes it possible to study several
generations within a short period
(ii) Its self pollinating, bisexual nature with the presence of contrasting
characters makes it easy to get true breeding lines
(iii) It is easy to produce hybrids by transferring pollen from one plant to
another.
Pea plant experiment 31
PEA PLANT EXPERIMENT 32
• In his work, Mendel took pure-line pea plants and cross-pollinated
them with other pure-line pea plants. He called these plants
the parent generation.

• When Mendel crossed pure-line tall plants with pure-line short plants, he
discovered that all the plants resulting from this cross were tall. He called
this generation the F1 generation (first filial generation).

• Next, Mendel crossed the offspring of the F1 generation tall plants among
themselves to produce a new generation called the F2 generation (second
filial generation).

• Among the plants in this generation, Mendel observed that three-fourths of

the plants were tall and one-fourth of the plants were short.
MENDELIAN CROSSES 33
• Mendelian cross can be a monohybrid cross or dihybrid cross
• allows scientists to predict the probability of inherited traits in offspring by
performing a genetic cross
• First, a symbol is designated for each allele in the gene pair.
• The dominant allele is represented by a capital letter and the recessive
allele by the corresponding lowercase letter, such as E for free earlobes
and e for attached earlobes.
• Homozygous dominant trait , the genotype would be EE and for a
homozygous recessive trait, the genotype would be ee.
• Heterozygous trait, the genotype would be Ee;
 MENDELIAN CROSSES - MONOHYBRID CROSS
(SINGLE TRAITS)
34
• Example: Lets say the colour of a childs hair is represented by Dominant Allele: B
(black hair)and Recessive Allele: b (pink hair)

• The possible genotype are : Homozygous dominant- BB , Homozygous recessive-

bb or Heterozygous- Bb

• The phenotype is the physical traits that are seen by the trait inherited
• Phenotype Results : Homozygous dominant- BB – Black hair
Homozygous recessive- bb – Pink hair
Heterozygous- Bb – Black hair

• NB- Anytime a dominant is combined with a recessive allele, the Dominant

is expressed
MENDELIAN CROSSES - MONOHYBRID CROSS (SINGLE
TRAITS) 35
• Example 1: Lets say a homozygous dog with blue eyes mates with a heterozygous
dog with brown eyes – what is the probability that the offspring will have blue eyes
when blue is a recessive Allele (b) and Brown is a dominant allele (B)
- calculate the phenotypic ratio and genotype ratio
Lets define our genotype: homozygous dog with blue eyes (bb)
• heterozygous dog with brown eyes (Bb)
• Punnets square gives : Bb, Bb, bb,bb
• The possible genotype are : Heterozygous- Bb (50%), Homozygous recessive- bb
(50%)
• what is the probability that the offspring will have blue eyes- 2/4 = ½
• what is the probability that the offspring will have brown eyes - 2/4 = ½
MENDELIAN CROSSES - MONOHYBRID CROSS 36
• The genotype and phenotype ratio:

• Genotype Ratio: genotypes generated are Bb, Bb, bb,bb

two types of genotypes were produced : 2Bb : 2bb (this can further be written
as 1:1 as it is divisible by 2)

• Phenotype Ratio (colours of the eyes): Blue : Brown

2: 2 (this can further be written as
1:1 as it is divisible by 2)

NB: This represents the first generation

 MENDELIAN CROSSES - MONOHYBRID CROSS 37
• Example 2: Two heterozygous cats with brown eyes mate together when blue is a recessive Allele (b)
and Brown is a dominant allele (B)
- What is the probability that they will produce a cat with brown eyes
- What is the probability that they will produce a cat with homozygous
- Calculate the phenotype ratio and genotype ratio

Results: punnet square reveals: BB,Bb,Bb,bb

A) Genotypic with brown colour = ¾ = 3:1 (75% probability for brown eyes)
Phenotypic with brown colour = ¾ = 3: 1 (75% probability for brown eyes)
B) Homozygous = BB and bb = 2/4 or ½ given a ratio of 2: 2 (50% probability for brown eyes)
c) Genotypic ratio== 1: 2:1 (75% probability for brown eyes)
Phenotypic ratio = ¾ = 3: 1
MENDELIAN CROSSES- MONOBRID CROSS 38
Results:
 MENDELIAN CROSSES- ASSIGNMENT 39

• Trial : consider a situation where incomplete dominance

occurs in flowers (RR- red, RW- pink, WW-white). A)what is the
probability that red flower will be produced from two pink
flowers? What is the probability that a pink flower will be
produced from a red and pink flower?
MENDELIAN CROSSES- DIHYBRID CROSS 40
• Looks at two traits or the second generation
• Example – A goat (Ffbb) with black fur(Ff) and blue eyes (bb) mates with another goat (ffBb) that
has white fur(ff) and brown eyes (Bb).
• What is the probability that the baby goat will have black fur and brown eyes
• What is the probability that the baby bear will have white fur and blue eyes
• What is the probability that the baby bear will have homozygous dominant alleles for at least one
trait?
• What is the probability that the baby bear will have heterozygous alleles for both trait?
• Calculate the genotypic ratio and phenotypic ratio

NB: requires the 16 box punnet square

MENDELIAN CROSSES- DIHYBRID CROSS 41
Results:
 Mendel’s laws of genetics
42
• 1. Mendel’s law of dominance: When an organism has
two different alleles for a trait, one allele dominates.

• 2. Mendel’s law of segregation: During gamete

formation by a diploid organism, the pair of alleles for a
particular trait separate, or segregate, during the formation of
gametes (as in meiosis).

• 3. Mendel’s law of independent assortment: The

members of a gene pair separate from one another
independent of the members of other gene pairs. (These
separations occur in the formation of gametes during
meiosis.)
 Rediscovery of Mendels work in 1900 43

• Carl Erich Correns

- A German botanist rediscovered Mendels work in 1900
- He worked with Mirabilis jalapa (4 ‘O’clock plant)
- He game to the conclusion of Extrachromosomal inheritance

• Hugo Devries
- Rediscovered Mendel's law of inheritance
- he coined the term mutation – as sudden heritable changes in characteristics

• Tschermak
- Used mendel’s law of heredity
- Applied it in the barley, wheat rye hybrids and oat hybrids for the development of new plants
 IMPORTANCE 44
 Creates Groupings of life: Genetic variation is the foundation of all evolutionary
change and the ultimate basis of all life forms crucial to understanding the past,
present, and future of life.
 Agriculture: -Genetically Modified organisms (GMO) animals and Crops for food
 Pharmaceutical industry: Genetically modified fungi and bacteria are used for
synthesizing numerous drugs and food additives. Growth hormone, insulin, and
clotting factor are now commercially produced by genetically engineered bacteria
 Diagnosis of several genetic disorders which may be expressed in later stages of
growth can now be studied in new born babies. Examples are genetic disorders such
as sickle-cell anaemia
 Treatment options in Gene therapy: the direct alteration of genes to treat human
diseases
Importance 45

 Healthcare Providers use cytology in tests like:

- Urinary cytology
- Breast cytology
- Respiratory cytology
- Ear and eye cytology
 OTHER IMPORTANT DISCOVERIES 46
YEAR SCIENTIST AND DISCOVERY

1869 Friedrich Miescher identified DNA

1901 Hugo de vries coined the term “mutation”

1902 Sutton & Boveri proposes Chromosomal theory of inheritance

1903 Developed the concept of Pureline (now known as genes)

Coined the name ‘Phenotype’ and ‘genotype’
1905 William Bateson and Punnett - Discovered the phenomena of linkage (closely located genes on the same
chromosome)
Sex determination, linkage and first case of autosomal Linkage
1906 Bateson coined the term “genetics”

1908 Nilsson Ehle

 OTHER IMPORTANT DISCOVERIES 47
YEAR SCIENTIST AND DISCOVERY

1909 -Johannsen coined the term “gene”. -Archibald Garrod published the book “Inborn errors of
metabolism”
1910 T.H. Morgan studied linkage and crossing over in Drosophila and coined the term “crossing over”
(Nobel prize, 1933).
1911 Sturtevant constructed the first linkage map in Drosophila.
1917 -1923 Bridges gave genic balance theory and non-disjunction theory. He described the different chromosomal
abnormalities and aberrations.
1925 Bernestein proposed multiple allelic inheritance of ABO blood group

1927 H.J. Muller reported use of CIB technique to show X-rays are mutagenic (Nobel prize, 1946).
 OTHER IMPORTANT DISCOVERIES 48
YEAR SCIENTIST AND DISCOVERY

1928 Griffith discovered transformation in Diplococcus pneumoniae.

1930 R.A. Fisher, J.B.S. Haldane and Sewell Wright laid the foundation for population genetics

1941 Beadle and Tatum proposed “one gene-one enzyme” in Neurospora (Nobel prize 1958).

1944 Avery, MacLeod and McCarty demonstrated the transforming principle as DNA, the genetic material

1950 Chargaff proved that in DNA, the amount of adenine is equal to amount of thymine; the amount of guanine is equal to
amount of cytosine and the content of purine is equal to content of pyrimidine.
1952 Hershey (Nobel prize, 1969) and Chase revealed DNA as the genetic material of bacteriophage.

1953 J. D. Watson, F.H.C. Crick (Nobel prize, 1962) proposed double-helical structure model of DNA using X-ray diffraction
data of Wilkins (Nobel prize, 1962) and base composition data of Chargaff.
1955 Benzer described fine structure of the phage T4rII locus

1956 Tjio and Levan resolved the normal diploid chromosome number of humans as 46

1957 Frankel Conrat and Singer established RNA as the genetic material of tobacco mosaic virus
 OTHER IMPORTANT DISCOVERIES 49
YEAR SCIENTIST AND DISCOVERY
1958 Meselson and Stahl identified semi-conservative replication of DNA

1961 - Nirenberg and Mathaei cracked the genetic code present on mRNA
- Jacob and Monod proposed the “Operon model” for gene regulation (Nobel prize, 1978)
1965 Harris Watkins produced hybrid cell fusing somatic cells of mouse and man.

1970 Nathan and Smith isolated first restriction endonucleases (Nobel prize, 1968).

1972 Maxim, Gilbert and Singer published DNA sequencing techniques (Nobel prize, 1980)

1983 -Kary Mullis and others developed the polymerase chain reaction (PCR) for quick amplification of DNA.
-Nobel prize for Barbera McClintock for her jumping genes concept.
1986 Nirenberg and Har Govind Khorana established the complete genetic code.

1990 -Gene therapy used to treat human genetic diseases in U.S.A.

- Human Genome Project was launched.
1995 DNA of the bacterium Haemophilus influenzae was fully sequenced.
 OTHER IMPORTANT DISCOVERIES 50
YEAR SCIENTIST AND DISCOVERY
1998 Rough draft of human genome map showing more than 30,000 genes was released. Development of
Terminator gene technology by Delta and Pine Co and Bollguard cotton by Monsanto
2001 Craig Venter and Francis Collins announced first complete draft of human genome

2003 The Human Genome Project was successfully completed

2022 The standard reference gene, GRCh38.p14, of the human genome, is fully sequenced and contains
3.1 billion base pairs
Questions 51