Introduction to Genetics 1.
Law of Segregation
(Historical Development)
What is Genetics?
➢ It is the science that deals with the study of heredity and
variation.
➢ GENETICS came from the word gen, genetikos
meaning generative and genesis meaning beginning.
HEREDITY: transmission of traits from parent to offspring.
VARIATION: similarities and differences
History of Genetics
• Archeologists have discovered evidence (primitive art,
preserved bones, skulls and dried seeds), which suggests
that animals were domesticated and plants were cultivated
thousands of years ago.
• Selection of desirable traits – artificial selection
• Between 8000 and 10 000 B.C. → horses, camels, oxen and
various breeds of dogs (dogs are derived from the wolf
family) were domesticated to serve various roles.
The Proponents
Aristotle
➢ He proposed that the generative power of male semen
resided in a “vital heat” it contained which has the capacity
to produced offspring of the same form as the parent.
➢ He believed that the “vital heat” cooked and shaped the
menstrual blood produced by the female which was the
physical substance giving rise to an offspring.
Charles Darwin
➢ Proponent of the “Theory of Evolution”, (species evolve as
a result of natural selection)
➢ Introduced the “Origin of Species”
Gregor Mendel
➢Between 1856 and 1863, Mendel cultivated and tested
some 28,000 pea plants
➢He found that the plants' offspring retained traits of the
parents
➢He was regarded as the “Father of Genetics"
Gregor Mendel (1822-1884)
❖ Responsible for the Laws governing Inheritance of
Traits (Austrian monk)
❖Studied the inheritance of traits in pea plants
❖Developed the laws of inheritance:
2. Law of Independent
3. Assortment
• By studying pea plants, he determined:
– Characteristics are inherited in discrete units (later called
genes)
– Inherited units are independently segregated and assorted
– Inherited units can be dominant or recessive
Friedrich Miescher
➢He said that within the chromosome, there is a weak acid.
➢1869 – Friedrich Miescher identified DNA
William Henry Sutton
➢He affiliated the behavior of chromosomes to the genes
➢Together with Boveri, they introduced the chromosomal
theory of inheritance
Thomas Hunt Morgan
❑Worked at Columbia University; later at CalTech
❑Studied fruit fly eye color, determining that trait was sex-
linked
❑Won the Nobel Prize in 1933 for his work on chromosomes
and genetics
It was known that genetic material was located on a
chromosome, “genes on chromosomes” This genetic
material was in discrete units called genes
It was NOT known whether the gene was simply a protein, or
whether it was composed of DNA
Frederick Griffith
• Late 1920’s (From Britain)
• Worked with bacteria called Streptococcus pneumoniae
• Defined the term, “TRANSFORMATION” which means the
change in a genotype and phenotype is due to the
incorporation of external DNA by a cell
Oswald Avery
Avery’s work involved separating DNA and proteins, and then
attempting to see which substance could transform live,
nonpathogenic bacteria into pathogenic bacteria.
Avery’s conclusion:
“DNA was the transforming substance”.
1944 – Oswald Avery demonstrated that DNA was genetic
material
Hershey and Chase
• Alfred Hershey; Martha Chase (Early 1950’s)
• Used phages
– Viruses used to infect bacteria (Called “T2” phages) • Used wire models to conform with the measurements that
Franklin and Wilkins had come up with
• Their question: which part of the virus—protein coat or
DNA—is responsible for transforming E. coli ? • Determined the structure to be a double helix

• Conclusion: • Maurice Wilkins was also included in winning the Nobel

prize
– DNA IS RESPONSIBLE FOR TRANSFORMATION OF
BACTERIA, NOT PROTEINS • Lead to understanding of mutation and relationship
between DNA and proteins at a molecular level
– THEREFORE, DNA IS THE HEREDITARY MATERIAL
• 1959 – “Central Dogma”
Erwin Chargaff
DNA→RNA→protein
• Biochemist (Died in 2002)
Genetic Concepts
• Studied proportion of purines and pyrimidines in DNA
Chromosome – double stranded DNA molecule packaged by
• Findings: CHARGAFF’S RULES
histone & scaffold proteins
– DNA composition varies between different species
• Chromosome numbers
Chargaff’s Rules
– Constant for an organism

– n - haploid number (Chromosomal composition found in a

human gamete (23 chromosomes)

– 2n – diploid number (Chromosomal composition found in

most female human cells (46 chromosomes)

– Each maternal & paternal pair represent homologous

chromosomes - called homologs

• Human DNA: A = T; G = C • Karyotype

– A = 30.9% – T =29.4% • Homologous Chromosomes

– G = 19.9% – C = 19.8% – Share centromere position

Linus Pauling – Share overall size

• He also worked on the structure of DNA, but came up with – Contain identical gene sets at matching positions (loci)
a TRIPLE HELIX

– He thought DNA was 3 strands with the phosphates on the

inside

Rosalind Franklin and Maurice Wilkins

• Franklin gave the idea that DNA is a helical structure

• They used X-ray crystallography to look at the shape of

DNA
• Gene – sequence of DNA which is transcribed into – rRNA,
• Their information gave Watson and Crick the necessary tRNA RNA or mRNA
information they needed to come up with the double helix
• Locus – the position on a chromosome of a particular DNA
structure
sequence (gene)
– Width of the helix
• DNA is mutable
– Spacing of the nitrogenous bases
• A variation in DNA sequence at a locus is called an allele

– Diploid organisms contain 2 alleles of each locus (gene)

Oswald Avery, Maclyn McCarty Colin Munro Macleod and
Rosalind Franklin (THEY ALL CONFIRMED THE EXISTENCE OF
DNA)
James Watson and Francis Crick
• Alleles can be identical – homozygous
• Alleles can be different – heterozygous
• If only one allele is present – hemizygous

– Case in males for genes on X and Y chromosomes

• Allele – G vs g; W vs w
• Genome
– Collection of all genetic material of organism
• Genotype
– Set of alleles present in the genome of an organism
• Phenotype
– Result of Gene Expression
– Genes (DNA) are transcribed into RNA
– mRNA is translated into protein, tRNA & rRNA work in
translation process
– Biochemical properties of proteins, tRNAs & rRNAs
determine physical characteristics of organism
Major fields of Genetics
CYTOGENETICS
➢ deals with the physical basis of heredity (cell)
MOLECULAR GENETICS
➢ Chemical basis of heredity; newest and most advanced
field of Genetics; Includes genomics and proteonics
CLASSICAL GENETICS
➢ Study of analysis of offspring to mating (parents to
offspring)
POPULATION GENETICS
➢ Deals with the transmission of trait with a large group of
individual through a passage of time.
BEHAVIORAL GENETICS
➢ Study of behavior of an organism.
Investigative Approaches in Genetics
1. Transmission Genetics
❑ patterns of inheritance of traits are examined (Based on
Mendel’s experiment)
❑ Uses pedigree analysis (patterns of inheritance are traced
through several generation leading to inferences on the
mode of inheritance of trait under study
2. Cytogenetics - study of chromosomes
❑ Study of chromosomes through light microscopy
❑ Light microscope is useful in the investigation of
chromosome structure and abnormalities and is
instrumental in preparing karyotype (illustrate the
chromosomes characteristic of any species arranged in
standard sequence
❑ In high resolution microscopy, genetic molecules and their
behavior during gene expression can be visualized directly.
3. Molecular Genetic Analysis
❑ The precise nucleotide sequence has been determined for
many genes cloned in the laboratory.
❑ It make use of Recombinant DNA studies, in which genes
from another organism are literally spliced into bacterial or
viral DNA and then cloned.
❑ In the new field of DNA Biotechnology, genes are
identified, sequenced, cloned and manipulated. Using the
most recent technology, it is now possible to probe gene
function in extreme detail.
❑ It created the potential for gene therapy which has
implications for medicine, agriculture and bioethics.
4. Population Genetics
❑ Scientists attempt to define how and why certain genetic
variation is maintained in populations, while other variation
diminishes or is lost with time. This enable them to
understand evolutionary processes.
❑ It allows us to predict gene frequencies in future
generations.
Application of Genetics
1. Agriculture (selective breeding and hybridization
technique)
❑ Plants have been improved in four major ways:
1. enhanced potential for more vigorous growth and
increased yields, including the genetic phenomenon of
hybrid vigor (heterosis)
2. Increased resistance to natural predators and pests,
including insects and disease-causing microorganisms
3. Production of hybrids exhibiting a combination of superior
traits derived from two different strains or two different
species
4. Selection of genetic variants with desirable qualities such
as increased protein value, increased content of limiting
amino acids essential in human diet or smaller plant size,
reducing vulnerability to adverse weather conditions.
❑ Superior breeds of livestock
❑Selective breeding has produced chickens that grow faster,
yield more high quality meat per chicken and lay greater
numbers of larger eggs.
❑In larger animals like pigs and cows, the use of artificial
insemination is particularly important. Sperm samples
derived from a single male with superior genetic traits can
fertilized thousands of females located in all parts of the
world.

❑ Medicine

❑Numerous human disorders have been discovered to

result from either a single mutation or a specific
chromosomal abnormality (i.e. sickle cell anemia,
erythroblastosis fetalis, cystic fibrosis, hemophilia, muscular
dystrophy, Tay-Sachs disease, Down syndrome and many
metabolic disorders were well documented and understood
at molecular level)

❑ The recognition of the molecular basis of human genetic

disorders and cancer (genetic disorder at somatic cell level)
provides the means for development of methods for early
detection and efficient treatment.

❑Genetic Counseling gives couples objective information on

which they can based informed decision about child-
bearing.\

❑Advances in immunogenetics have made possible

compatible blood transfusions as well as organ transplants.

❑Through immunosuppresive drugs, many successful

transplant operations involving human organs like heart,
liver, pancreas and kidneys are increasing annually.

❑DNA Biotechnology: Recombinant DNA techniques paved

the way for manipulating and cloning a variety of genes
including those that encode medically important molecules
such as insulin, blood clotting factors, growth hormone and
interferon.

❑Human genes are isolated and spliced into vectors and

transferred to host cells that serve as “production centers”
for the synthesis of these proteins.

❑ Human genes responsible for inherited disorders such as

cystic fibrosis and Huntington disease have been identified,
isolated, cloned and studied. It is hoped that through gene
therapy, genetic disorders are treated by inserting normal
copies of genes into the cells of afflicted individuals.

❑ Human Genome Project: the entire genetic complement

(the genome) of several species including our own has been
sequenced. The genomic sequence of several bacterial
species, yeast, fruitfly, mustard plant (Arabidopsis) and
nematode (Caenorhabditis elegans) is now known.

❑ DNA Fingerprinting is useful in solving paternity cases and

crimes