CYTO311: CYTOGENETICS
TOPIC: INTRODUCTION TO CYTOGENETICS
1ST SEMESTER | S.Y 2024-2025
LECTURER: Prof. Pamela Sengson-Sevilla RMT, ASCPi
TOPIC • Branch of genetics that studies the
SUBTOPIC structure of the DNA within the cell
SUB SUBTOPIC nucleus.
• It studies the number and
morphology of the chromosomes
BRANCHES OF GENETICS • Microscopic study of chromosomes
• Blends the skills of cytologist, who
• Forward Genetics study the structure and activities of
• Remain the foundation of all areas CYTOGENETICS cells with those of geneticist, who
of genetics, and concerned studies genes.
primarily on methods by which • Cytologist – discovered the
genetic traits classified as either chromosomes, and the way they
dominant (always expressed), duplicate and separate during cell
recessive (subordinate) or division
intermediate (partially expressed), • Geneticist – began to understand
and polygenic (due to multiple the behavior of genes at the cellular
CLASSICAL genes). levels
GENETICS • Transmitted in either plants or
• The study of the molecular
animals.
structure of DNA, its cellular
• Refers to the study of laws of activities (including its replication),
hereditary transmission in living and its influence in determining the
organisms. It began with Mendel’s overall makeup of an organism.
study of inheritance in garden peas.
• Relies heavily on genetic
- Continuous with studies of
engineering, the recombinant DNA
inheritance with different MOLECULAR technology (can be used to modify
plants or animals, as well as GENETICS organisms by adding foreign DNA,
humans.
thereby forming transgenic
• The study of genes in populations of organisms)
animals, plants, and microbes - Transgenic organisms: organism
provides information on past whose genome has been
migrations, evolutionary modified by introduction of
relationships and extents of mixing external DNA sequences into
among different varieties and the germline.
species, and methods of adaptation
POPULATION to the environment.
GENETICS • Studies the composition of biologic EARLY HISTORY OF GENETICS AND THEORIES OF
population and changes on genetic INHERITANCE
composition that results from the
operation of various factors • Hippocratic School of Medicine (500–400 B.C.) –
including the natural selection. proposed that “humors” served as bearers of traits
• This is also the study of variations of - Hippocrates’ theory of “four humors” basically
genes found within groups of states that the body is made up of four substances
individuals. - The theory refers these substances as “humors”
- For ideal health, these four should be in balance
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- When balance is lost, this leads to sickness - Spontaneous generation was disproved by Louis
- The way to treat the disease is to restore the Pasteur, and living organisms were considered to be
balance derived from pre-existing organisms [Cell Theory]
- Four Humors:
o Black Bile [related to Earth; has dry and cold
properties] CHARLES DARWIN
o Yellow Bile [related to fire; has warm and
dry properties] • Charles Darwin – proposed that existing species arose
o Blood [related to air; contains moist and by descent with modification from ancestral species
warm qualities] • Born in 1809 in Shrewsbury, England
o Phlegm [related to water; has moist and • His father was a doctor, and hoping that his son, Charles
cold qualities] Darwin, would earn a medical degree at Edinburgh
• Aristotle (384–322 B.C.)- generative power of male University in Scottland
semen resided in a “vital heat” contained within it - He enrolled there at the age of 16, but turns out
- That vital heat has a capacity to produce an that he is more interested in Natural History than
offspring of the same form Medicine.
- This heat cooked and shaped the menstrual blood - Sight of blood makes his sick in the stomach
from the female [physical substance that gave rise • In 1831, Darwin embarked on the voyage in the British
to an off-spring] royal navy called the HMS Beagle [employed as
- Males are responsible for providing the active naturalist].
element that gives life to an offspring and make - The main purpose of the trip was to survey the
sure that it is a male or a female coastline of South America and chart its harbors to
- Females are responsible for providing the nutrients make better maps of the region
to the offspring - The work that Darwin did was an added bonus
• William Harvey – proposed the theory of epigenesis - Darwin spent his time on the trip on collecting
- This assumes that the organism is derived from the samples of plants, rocks, and fossils, and he explores
substances present in the egg that differentiates the regions in Brazil, Argentina, Chile, and remote
into adult structures during embryonic development islands, Galapagos.
- Epigenesis holds that structures such as body organs - He packed his collected specimens in crates and
are initially not present inside the early embryo, but sent them back to England aboard other vessels
instead creates, “denovo” or a new • Upon his return in 1836, his work still continued. Studies
• Preformationism – states that the fertilized egg of his samples and notes from his trip led to science
contains a complete miniature adult called a discoveries.
homunculus; directly conflicted with epigenesis. - Fossils he collected were shared to paleontologist
- 17th century – first proposed and geologist that lead to the understanding of
- Stated that sex cells contain a complete miniature processes that shaped the Earth’s surface.
adult that is perfect in every form [homunculus] • Darwin’s analysis on the plants and animals he collected
- This theory was later discounted led him to question, “how does the species formed and
• Around 1830, Matthias Schleiden and Theodor Schwann changed overtime?” → lead him to Natural Selection
proposed the cell theory. • In the theory of Natural Selection, it says that
- All organisms are composed of basic units called individuals with heritable traits allow them to adapt to
cells. their environment are better able to survive and
• Cells which are derived from similar pre-existing reproduce than those with less adaptive traits.
structures. On the other hand, Spontaneous generation - In this way, such traits will be more widespread and
states that the creation of living organisms were from can eventually led to the development of other
non-living components. species.
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• In 1859, Darwin published his thoughts on evolution
and natural selection on what we called, “On the Origin
of Species”.
- Popular and controversial
- Convinced more people that species change
overtime;
• Charles Darwin died in 1882 at the age of 73; buried in
Westminster Abbey, England
GREGOR MENDEL
• Published a paper describing how traits are passed from • Homologous chromosomes – identical in size;
one generation to the other, utilizing pea plants as centromere in the middle: same location
models
• Proposed that traits are passed from parents to
offspring in a predictable manner
CHROMOSOME THEORY OF INHERITANCE
• He further concluded that each trait in pea plants is
controlled by a pair of factors (which we now call • Chromosomes behave differently during the two forms
genes) and that members of a gene pair separate from of cell division, mitosis and meiosis.
each other during gamete formation (the formation of • In mitosis, the chromosomes are copied and distributed
egg cells and sperm) to each daughter cell. Both cells obtain a diploid set of
• Father of Genetics chromosomes.
- End product: diploid number
• In meiosis, the cells receive only one chromosome from
CHROMOSOME THEORY OF INHERITANCE each chromosome pair, and the resulting number of
chromosome is called the haploid number (n)
• Mendel conducted his experiments before the structure - End product: haploid number
and role of chromosomes were known. • Finally, the chromosomal theory of inheritance states
• About 20 yrs after his advancement, microscopes allow that, “inherited traits are controlled by genes residing
researchers to identify chromosomes and establish. on chromosomes faithfully transmitted through
• Heredity is dependent on the genes contained in the gametes, maintaining genetic continuity from
structures called chromosomes. The chromosomes generation to generation.”
were contributed to the individual by the gametes.
• Diploid number (2n) – the characteristic number of
chromosomes a eukaryote has in most of its cells
[humans’ diploid number: 46 or 23 pairs]
• Chromosomes in diploid cells exist in pairs called
homologous chromosomes.
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CHEMICAL NATURE OF GENES - The 5’ and 3’ designations refer to the number of
carbon atoms in a deoxyribose sugar molecule to
• Scientists tried to identify which component of the
which a phosphate group bonds.
chromosomes carries genetic information
• The summary of the structure of DNA illustrating the
• The major chemical component of chromosomes were
arrangement of the double helix is found on the left
DNA and proteins
side of the illustration on the previous column.
STRUCTURE OF DNA AND RNA • The dotted lines at the center of the illustration just
between the bases represents the “weak chemical
DEOXYRIBONUCLEIC ACID [DNA] bonds” known as the hydrogen bonds.
• DNA is a long, ladder-like macromolecule that twists to - Hold together the 2 strands of the DNA helix
form a double helix. RIBONUCLEIC ACID [RNA]
• Each strand of the molecule is made up of nucleotides.
• The four types of nucleotides found in DNA are: A • The RNA is also made up of nucleotides but contains a
(adenine), G (guanine), C (cytosine), T (thymine) different sugar than DNA
• The DNA ladder are exact complements of each other, • It is a single-stranded molecule that contains uracil (U)
so that the double helix consist of A=T and G=C base in place of thymine.
pairs. • An RNA strand can form complementary structures with
either DNA or RNA
GENE EXPRESSION: FROM DNA TO PHENOTYPE
• The genetic information in the DNA is expressed to form
a functional gene product, which in most cases, a
protein.
• In eukaryotic cells, the process begins in the nucleus
with transcription.
• The mRNA produced then moves to the cytoplasm and
migrates to the ribosomes.
• The synthesis of protein under the direction of the
mRNA is called translation.
• Maurice Wilkins, James Watson, and Francis Chick – • Information encoded in mRNA (the genetic code)
awarded a Nobel prize in 1962 for their work of the consists of linear series of nucleotide triplets (codon).
structure of DNA • Each codon is complementary to the information stored
• DNA – have a sugar and a phosphate backbone; the in DNA and specifies the insertion of a specific amino
“deoxyribo” corresponds to the pentose sugar that it is acid into a protein.
composed of that is bound to its base, while the nucleic • Protein assemble is accomplished with the aid of
acid corresponds to the bases and phosphate. adaptor molecules called, tRNAs.
• “deoxy” because there is a missing OH group in the
sugar ring = lack of oxygen
• The acidity of the DNA is derived from the phosphate
group utilized in the formation of RNA and DNA
molecules. The easily lost proton contribute to the
acidic nature of nucleic acids.
• Double helix = 2 strands = 2 chains antiparallel [C5 and
C3]; 2 ends = 5’ and 3’
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PROTEIN AND BIOLOGICAL FUNCTION RECOMBINANT DNA TECHNOLOGY
• Proteins perform diverse biological functions • Began in the early 1970s
- Responsible for imparting the properties of living • Researchers discovered restriction enzymes that could
systems be used to cut any organism’s DNA at specific
- The diversity of proteins and biological function nucleotide sequences, therefore producing a
they can perform arises from the fact that protein reproducible set of DNA fragments.
arises from 20 different amino acids. - Bacteria protects themselves from viral infections
• Enzymes, the largest category of proteins, serve as by producing enzymes that cut viral DNA at specific
biological catalysts sites
- Catalysts: substance that can be added to the - When cut by this enzyme, the viral DNA cannot
reaction to increase the reaction rate without direct the synthesis of the phage particles
getting consumed in the process. - Scientist quickly realized that the enzymes, called
• Other types are critical components of cells and the restriction enzymes, could be used to cut any
organisms other organisms’ DNA.
• Some carry essential molecules (hemoglobin [oxygen- • Soon researchers discovered ways on how to insert the
binding pigment of the RBC]), regulate body processes DNA fragments into carrier DNA molecules (vectors) to
(protein hormones e.g., insulin [pancreatic hormone]), form recombinant DNA molecules.
take part in muscle (actin and myosin [contractile • The recombinant DNA will be transferred into bacterial
muscle proteins]) and connective tissue (collagen cells to produce thousand of copies, or clones.
[connective tissue molecule]) and keratin [structural • The cloned DNA fragments can be isolated from the
molecule of our hair], histones [proteins integral to bacterial host cells.
chromosome structure of the eukaryotes], • Such fragments can be used to isolate genes, study their
immunoglobulins [antibody molecules of the immune organization and expression, and to study their
system] nucleotide sequence and evolution
• A protein’s shape and chemical behavior are
determined by its linear sequence of amino acids, which
in turn is dictated by the stored information in the DNA
of a gene that is transferred to RNA, which then directs
the protein’s synthesis.
- DNA -> RNA -> Proteins
• Once a protein is made, its biochemical or structural
properties play a role in producing a phenotype.
• When mutation alters a gene, it may modify or even
eliminate the encoded protein’s usual function and
cause an altered phenotype.
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BIOTECHNOLOGY • They were easy to grow, had relatively short life cycles,
produced many offspring, and their genetic analysis was
• The use of recombinant DNA technology and other
fairly straightforward.
molecular techniques to make products is called
• Later on, the researchers created a large catalog of
biotechnology.
mutant strains for these organisms. The mutation was
• The use of recombinant DNA technology to genetically
carefully studied and map. They were called model
modify crop plants has revolutionized agriculture.
organisms.
• Biotechnology has also changed the way human
proteins for medical use are produced.
• Biotechnology-derived genetic testing is now available
GENETICS, ETHICS, AND SOCIETY
to perform prenatal diagnosis of heritable disorders and
to test parents for their status as heterozygous carriers • Genetics and its applications in biotechnology are
of more than 100 inherited disorders. developing much faster than the social conventions,
- Ex. Genes from sickle cell anemia, cystic fibrosis, public policies, and laws required to regulate their use.
hemophilia, muscular dystrophy, phenylketonuria, • There are many genetics related issues, including
etc. have already been cloned [tests are now concerns about prenatal testing, genetic discrimination,
available to inform parents if they carry these ownership of genes, access to and safety of gene
genes] therapy, and genetic privacy.
GENOMICS, PROTEOMICS, AND BIOINFORMATICS
• There have been efforts to decode each gene in the
genome and establish its function
• Genomics – study of genome. It studies the structure,
function, and evolution of genes and genomes
• Proteomics – identifies the set of proteins present in a
cell under a given set of conditions, and studies their
functions and interactions
• Bioinformatics – subfield of information technology
used to store, retrieve and analyze the massive amount
of data generated by genomics and proteomics
- To develop hardware and software for processing
nucleotide and protein data
MODEL ORGANISMS IN GENETIC STUDIES
• Principles of inheritance described by Mendel were
universal among plants and animals
• Geneticists gradually came to focus attention on small
number of organisms, including the fruit fly (Drosophila
melanogaster) and the mouse (Mus musculus)
• Reasons for using small number of organism:
(1) genetic mechanisms were the same in most
organisms
(2) these organisms had characteristics that made them
especially suitable for genetic research.
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