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Introduction to Cytogenetics

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What is Genetics ? What is Genetics ?

- Examples of genetic variation (within

Genetics is the study of heredity and variation
species)
1. Domesticated species
Heredity – study of transmission of traits and
2. Human genetics
biological information between generations
3. Natural Populations
Variation - are simply differences in genetic
sequence - Genetic variation →Phenotypic variation

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Cultivated varieties Animal Breeds

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Human Genetic Variation

Natural
Populations

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What is Genetics ? Areas of Genetics

• Classical Genetics
Three (3) primary sources of genetic variation: – (based on Mendel's 1st and 2nd laws)

• Mutations
• Gene flow
• Sex

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Areas of Genetics Areas of Genetics

• Evolutionary Genetics
• Molecular Genetics – (based on the theory of Natural Selection
– (based on the Central Dogma of Molecular proposed by Darwin)
Genetics)

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A million million spermatozoa,

All of them alive:
Out of their cataclysm but one poor
Noah
Dare hope to survive.
And among that billion minus one
Might have chanced to be Shakespeare,
another Newton, a new Donne—
But the One was Me.

Aldous (Leonard) Huxley

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History of
Genetics
Why Study History?
History
of “Those who cannot
remember the past
Genetics are condemned to repeat it”
(Santayana,1905-1906)

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History of Genetics

• People have known about inheritance for a

long time.

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Old Ideas
Despite knowing about inheritance in general, a
number of incorrect ideas had to be generated and
overcome before modern genetics could arise.
1. All life comes from other life. Living organisms
are not spontaneously generated from non-
living material.
2. Species concept: offspring arise only when two
members of the same species mate. Monstrous
hybrids don’t exist.
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Older Ideas
5. Male and female parents contribute
equally to the offspring.
– ancient Greek idea: male plants a “seed” in
the female “garden”.
– alleged New Guinea belief: sex is not
related to reproduction.
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History of Genetics
• People have known about inheritance for a
long time.
--children resemble their parents
--domestication of animals and plants,
selective breeding for good characteristics
--Sumerian horse breeding records
--Egyptian data palm breeding
--Bible and hemophilia
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Older Ideas
3. Organisms develop by expressing information
carried in their hereditary material. As opposed to
“preformation”, the idea that in each sperm (or
egg) is a tiny, fully-formed human that merely
grows in size.
4. The environment can’t alter the hereditary
material in a directed fashion. There is no
“inheritance of acquired characteristics”.
Mutations are random events.
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Mid 1800’s Discoveries
Major events in the mid-1800’s led directly to the
development of modern genetics.
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Mid 1800’s Discoveries Mid 1800’s Discoveries

❖1859: Charles Darwin ❖1866: Gregor Mendel

– published The Origin of Species, which – published Experiments

describes the theory of evolution by natural in Plant Hybridization,
selection. which lays out the basic
theory of genetics.
• This theory requires heredity to work.
• It is widely ignored until
1900.

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Mid 1800’s Discoveries Mid 1800’s Discoveries

❖1869: Friedrich Miescher ❖1871: The experiments of Ernst Haeckel proved
that the genetic material is indeed located in the
– isolated “nucleic acid” from pus cells. nucleus.

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Major Events in the 20th Century
• 1900: rediscovery of Mendel’s work by Carl Correns,
Hugo de Vries, and Erich von Tschermak.
• 1902: Archibald Garrod discovered that alkaptonuria,
a human disease, has a genetic basis.
Major Events in the 20th Century
• Wilhelm Johannsen- coined “gene”
• 1904: William Bateson discovered linkage between
genes. Also coins the word “genetics”.

• 1903: Walter Sutton hypothesized that the behavior of

chromosomes during meiosis, thus leading to the
discovery that genes are located on chromosomes

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Major Events in the 20th Century
• 1910: A year after, together with Reginald
Punnett, Bateson discovered the science of
genetic linkage.
– They also coined the term “epistasis” to
describe the interaction between two different
traits
Major Events in the 20th Century
• 1910: Thomas Hunt Morgan
proved that genes are located
on the chromosomes
(using Drosophila).
• 1918: R. A. Fisher began the study of quantitative
genetics by partitioning phenotypic variance into a
genetic and an environmental component.

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More 20th Century Events More 20th Century Events

• 1926: Hermann J. Muller shows that X-rays • 1944: Oswald Avery, Colin MacLeod and
induce mutations. Maclyn McCarty showed that DNA can
transform bacteria, demonstrating that DNA is
the hereditary material.

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More 20th Century Events More 20th Century Events

• 1953: James Watson and Francis Crick
determine the structure of the DNA molecule,
which leads directly to knowledge of how it
replicates

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More 20th Century Events More 20th Century Events

• 1966: Marshall Nirenberg solves the genetic • 1970: Reverse transcriptase
code, showing that 3 DNA bases code for one – an enzyme found in retroviruses, was
amino acid. discovered and was used in cloning genes.

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More 20th Century Events More 20th Century Events

• 1972: Paul Berg =1st to created a recombinant

DNA molecule
• 1972: Stanley Cohen and Herbert Boyer
combine DNA from two different species in vitro,
then transform it into bacterial cells: first DNA
cloning.

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More 20th Century Events More 20th Century Events

• 1977: Scientist Frederick Sanger • 1983: Kary Mullis
– introduced the process of sequencing the – invented the process called Polymerase
genome (set of genes of an organism) of a Chain Reaction (PCR).
bacteriophage. • In this technique, a segment of the DNA is
– Later, scientists have amplified until millions of copies are
done it in other organisms produced in just a short period of time
as well.
• 1990: The Human Genome Project was
started.
– GOAL: To sequence and map the genome
(collections of all the genes) of man.

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More 20th Century Events More 20th Century Events

• 1996: Ian Wilmut and Keith Campbell
• 2003: Sequence of the entire human genome is
– They have successfully cloned Dolly the announced.
sheep.
– Dolly was the first mammal to be cloned from
an adult cell.

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Timeline, People and Their

Accomplishments
• Gregor Mendel (heredity)
• Thomas Hunt Morgan (flies, linkage) END OF LECTURE
• Frederick Griffith (1928: transformation and mice)
• Oswald Theodore Avery, Colin MacLeod and Maclyn
McCarty (1944: DNA as the transforming agent)
Thank you for listening!
• Erwin Chargaff (late 40’s-early 50’s: base pairing=AT CG)
• Alfred Hershey-Martha Chase (1952: DNA is not a protein) Next Lesson:
• Watson and Crick (1953: chemical structure of DNA) Nucleic Acids
• Meselson-Stahl (mid 1950’s: DNA Replication details)

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