Introduction to Genetics 1.

Law of Segregation
2. Law of Independent
(Historical Development) 3. Assortment

• By studying pea plants, he determined:

What is Genetics?
– Characteristics are inherited in discrete units (later called
➢ It is the science that deals with the study of heredity and genes)
variation.
– Inherited units are independently segregated and assorted
➢ GENETICS came from the word gen, genetikos
– Inherited units can be dominant or recessive
meaning generative and genesis meaning beginning.
Friedrich Miescher
HEREDITY: transmission of traits from parent to offspring.
➢He said that within the chromosome, there is a weak acid.
VARIATION: similarities and differences
➢1869 – Friedrich Miescher identified DNA
History of Genetics
William Henry Sutton
• Archeologists have discovered evidence (primitive art,
preserved bones, skulls and dried seeds), which suggests ➢He affiliated the behavior of chromosomes to the genes
that animals were domesticated and plants were cultivated
thousands of years ago. ➢Together with Boveri, they introduced the chromosomal
theory of inheritance
• Selection of desirable traits – artificial selection
Thomas Hunt Morgan
• Between 8000 and 10 000 B.C. → horses, camels, oxen and
various breeds of dogs (dogs are derived from the wolf ❑Worked at Columbia University; later at CalTech
family) were domesticated to serve various roles.
❑Studied fruit fly eye color, determining that trait was sex-
The Proponents linked
Aristotle ❑Won the Nobel Prize in 1933 for his work on chromosomes
and genetics
➢ He proposed that the generative power of male semen
resided in a “vital heat” it contained which has the capacity It was known that genetic material was located on a
to produced offspring of the same form as the parent. chromosome, “genes on chromosomes” This genetic
material was in discrete units called genes
➢ He believed that the “vital heat” cooked and shaped the
menstrual blood produced by the female which was the It was NOT known whether the gene was simply a protein, or
physical substance giving rise to an offspring. whether it was composed of DNA
Charles Darwin Frederick Griffith

➢ Proponent of the “Theory of Evolution”, (species evolve as • Late 1920’s (From Britain)
a result of natural selection)
• Worked with bacteria called Streptococcus pneumoniae
➢ Introduced the “Origin of Species”
• Defined the term, “TRANSFORMATION” which means the
Gregor Mendel change in a genotype and phenotype is due to the
incorporation of external DNA by a cell
➢Between 1856 and 1863, Mendel cultivated and tested
some 28,000 pea plants Oswald Avery

➢He found that the plants' offspring retained traits of the Avery’s work involved separating DNA and proteins, and then
parents attempting to see which substance could transform live,
nonpathogenic bacteria into pathogenic bacteria.
➢He was regarded as the “Father of Genetics"
Avery’s conclusion:
Gregor Mendel (1822-1884)
“DNA was the transforming substance”.
❖ Responsible for the Laws governing Inheritance of
1944 – Oswald Avery demonstrated that DNA was genetic
Traits (Austrian monk) material

❖Studied the inheritance of traits in pea plants Hershey and Chase

• Alfred Hershey; Martha Chase (Early 1950’s)

❖Developed the laws of inheritance:
• 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
• Alleles can be identical – homozygous
Rosalind Franklin (THEY ALL CONFIRMED THE EXISTENCE OF
DNA) • Alleles can be different – heterozygous
James Watson and Francis Crick • If only one allele is present – hemizygous

– Case in males for genes on X and Y chromosomes

• Allele – G vs g; W vs w 2. Cytogenetics - study of chromosomes

• Genome ❑ Study of chromosomes through light microscopy

– Collection of all genetic material of organism ❑ Light microscope is useful in the investigation of
chromosome structure and abnormalities and is
• Genotype
instrumental in preparing karyotype (illustrate the
– Set of alleles present in the genome of an organism chromosomes characteristic of any species arranged in
standard sequence
• Phenotype
❑ In high resolution microscopy, genetic molecules and their
– Result of Gene Expression behavior during gene expression can be visualized directly.
– Genes (DNA) are transcribed into RNA 3. Molecular Genetic Analysis
– mRNA is translated into protein, tRNA & rRNA work in
❑ The precise nucleotide sequence has been determined for
translation process
many genes cloned in the laboratory.
– Biochemical properties of proteins, tRNAs & rRNAs
❑ It make use of Recombinant DNA studies, in which genes
determine physical characteristics of organism
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

Major fields of Genetics variation is maintained in populations, while other variation
diminishes or is lost with time. This enable them to
CYTOGENETICS understand evolutionary processes.

➢ deals with the physical basis of heredity (cell) ❑ It allows us to predict gene frequencies in future
generations.
MOLECULAR GENETICS
Application of Genetics
➢ Chemical basis of heredity; newest and most advanced
field of Genetics; Includes genomics and proteonics 1. Agriculture (selective breeding and hybridization
technique)
CLASSICAL GENETICS
❑ Plants have been improved in four major ways:
➢ Study of analysis of offspring to mating (parents to
offspring) 1. enhanced potential for more vigorous growth and
increased yields, including the genetic phenomenon of
POPULATION GENETICS hybrid vigor (heterosis)
➢ Deals with the transmission of trait with a large group of 2. Increased resistance to natural predators and pests,
individual through a passage of time. including insects and disease-causing microorganisms
BEHAVIORAL GENETICS 3. Production of hybrids exhibiting a combination of superior
traits derived from two different strains or two different
➢ Study of behavior of an organism. species
Investigative Approaches in Genetics 4. Selection of genetic variants with desirable qualities such
1. Transmission Genetics as increased protein value, increased content of limiting
amino acids essential in human diet or smaller plant size,
❑ patterns of inheritance of traits are examined (Based on reducing vulnerability to adverse weather conditions.
Mendel’s experiment)
❑ Superior breeds of livestock
❑ Uses pedigree analysis (patterns of inheritance are traced
through several generation leading to inferences on the ❑Selective breeding has produced chickens that grow faster,
mode of inheritance of trait under study 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