INTRODUCTION,

HISTORICAL AND
MEDICAL IMPORTANCE
OF GENETICS
 BASIC TERMS IN GENETICS
Genetic Terms Definition in your own An example
words

Allele Different forms of a gene, Different alleles produce

which produce variations in different hair colors—brown,
a genetically inherited trait. blond, red, black, etc.

Genes Genes are parts of DNA and Genes contain blue‐print for
carry hereditary information each individual for her or his
passed from parents to specific traits.
children
Dominant Dominant version (allele) of When a child inherits
a gene shows its specific dominant brown‐hair gene
trait even if only one parent form (allele) from dad, the
passed the gene to the child. child will have brown hair.

Recessive Recessive gene shows its When a child inherits

specific trait when both recessive blue‐eye gene
parents pass the gene to the form (allele) from both mom
child. and dad, the child will have
blue eyes.
Homozygous Two of the same form of a Inheriting the same blue eye
gene—one from mom and gene form from both parents
the other from dad. result in a homozygous gene.
Genetic Terms Definition in your own An example
words
Heterozygous Two different forms of a Inheriting different eye
gene—one from mom color gene forms from
and the other from dad mom and dad result in a
are different. heterozygous gene.

Genotype Information that contain Blue eye and brown eye

nternal heredity genetic have different
code. genotypes—one is coded
for blue and the other for
brown.

Phenotype Outwardly expressed Both having or not having

traits or characteristics a widow’s peak are
phenotypes.

Mendelian Inheritance A simple genetic rule Some genetic traits follow

where a gene only comes Mendelian Inheritance,
in dominant or recessive while other genetic traits
forms. follow different
inheritance patterns or
rules.
History of
Genetics
 Introduction
The application of genetics and inheritance was an age long
thing demonstrated in different life scenarios
✔ The striking semblance between parents and children
✔ The ability of man to isolate and propagate desirable traits in
plants and animals in the process of domestication
✔Physical traits and characteristics distinguish members of the
same family
✔ Every living organism have hereditary
materials that finds expression as they
evolve.
✔ The inherited materials are determinants of
the phenotype of the individual.
✔ The translation from the genotype to the
phenotype can be altered by the environment.
✔ The genetic composition of an individual is
the product of the genetic makeup of the
parents.
Myths by Greek Philosopher with genetic
background
Theophrastus proposed that male flowers caused
female flowers to ripen
Hippocrates speculated that “seeds” were produced
by various body parts and transmitted to offspring
at the time of conception
Aristotle thought that male and female semen
mixed at conception
Aeschylus proposed the male as the parent with the
female as a “nurse for the young life sown within
her”
Cell Theory

✔ All living things are composed of one or

more cells
✔ Cells are the basic units of structure and
function in living things
✔ New cells are produced from existing cells
Genetic events; Mid 1800’s
✔ Modern genetics is a consequence of previous knowledge
about inheritance.
✔ These knowledge was further clarified by the following
events;
• 1859: Charles Darwin publishes The Origin of Species,
which describes the theory of evolution by natural
selection. This theory requires heredity to work.
• 1866: Gregor Mendel publishes Experiments in Plant
Hybridization, which lays out the basic theory of
genetics. It is widely ignored until 1900.
• 1871: Friedrich Miescher isolates “nucleic acid” from
pus cells.
Charles Darwin
His work led to the understanding of the
origin of species and how specie variability
evolve.
He postulated the basis of evolution and how
such evolution result in new forms.
Darwin did not understand the critical role of
gene in specie variability.
Gregor Mendel (1822-1884)
Systematically
recorded results of
crosses
Theorized on nature
of hereditary material
Postulate mechanism
of transfer of
"Elementen"
governing traits
He selected strains with clearly different
traits(purple or white flowers)
He did genetic crossing and analyzed number
of progeny having the traits.
He concluded that each organism contains
two copies of each gene, one from each
parent,
He suggested the presence of alternative
versions of the genes (alleles).
He described the unit of hereditary as
particles which are passed to offspring
unchanged.
He deduced that the particles (now called
genes) segregate randomly into gametes
(Mendel’s first law, the Principle of
Segregation).
The two factors for a particular trait assort
independently of factors controlling other
traits (Mendel’s second law, the Principle of
Independent Assortment).
✔ An example is seed color in peas:
● True-breeding plants with yellow seeds
(YY) are crossed with true-breeding
plants with green seeds (yy).
● The progeny (F1) have yellow seeds,
and a heterozygous genotype (Yy).
● When the progeny self-pollinate, the F2
contains 3 yellow:1 green, with
genotypic ratios of 1 YY : 2 Yy : 1 yy.
● YY yy Yy Yy
Yy Yy Yy Yy YY Yy Yy yy
Major Events in the 20th Century
1870: Nucleus was known to contain nucleic
acid
1900: rediscovery of Mendel’s work by Robert
Correns, Hugo de Vries, and Erich von
Tschermak .
1902: Archibald Garrod discovers that
alkaptonuria, a human disease, has a genetic
basis.
1904: Gregory Bateson discovers linkage
between genes. Also coins the word
“genetics”.
1910: Thomas Hunt Morgan proves that
genes are located on the chromosomes (using
Drosophila).
1918: R. A. Fisher begins the study of
quantitative genetics by partitioning
phenotypic variance into a genetic and an
environmental component.
Thomas Hunt Morgan
Thomas Hunt Morgan
Thomas Hunt Morgan: early 1900’s
Worked at Columbia University
Studied fruit fly eye color,
determining that trait was sex-linked.
Won the Nobel Prize in 1933 for his
work on chromosomes and genetics
Determine the average distance
between genes
More 20th Century Events
1926: Hermann J. Muller shows that X-rays
induce mutations.
1944: Oswald Avery, Colin MacLeod and
Maclyn McCarty show that DNA can
transform bacteria, demonstrating that DNA
is the hereditary material.
1953: James Watson and Francis Crick
determine the structure of the DNA
molecule, which leads directly to knowledge
of how it replicates
James Watson and
Francis Crick
James Watson and Francis Crick

Determined the structure of

DNA to be a double helix
Helped the understanding
of mutation and
relationship between DNA
and proteins
1959 – “Central Dogma”
◦DNA🡪RNA🡪protein
Central Dogma of Biology
More 20th Century Events
1966: Marshall Nirenberg solves the genetic
code, showing that 3 DNA bases code for
one amino acid.
1972: Stanley Cohen and Herbert Boyer
combine DNA from two different species in
vitro, then transform it into bacterial cells:
first DNA cloning.
1970 - Arber and Smith - First restriction
enzyme, Hind II, is isolated
1970 - Baltimore and Temin - Discovery of
reverse transcriptase
1972 - Berg - First recombinant DNA
molecule is constructed
1973 - Boyer and Cohen - First functional
recombinant E. coli cell produced
1977 - Sanger and Gilbert - DNA sequencing
techniques are described
1977 - Sharp and Roberts - Introns discovered
1978 - Botstein - launch the era of molecular
mapping of linkage groups
1990 - US Government - Human Genome
Project launched
2001: Sequence of the entire human genome
is announced.
IMPORTANCE/APPLICATION OF GENETICS
GENETIC COUNSELLING
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