Genetics

Study of heredity and variation

among members of a species and/or
among organisms
Heredity connotes similarities;
Variation means differences
Applies to living or formerly living
members of a species or taxon

Heredity and variation

Heredity and Variation

Heredity and variation

Heredity and Variation

Scope of Genetics
DNA
Genes
Chromosomes
Karyotype
Individuals
Family

Levels of Genetic Studies

Population

Scope of Genetics

DNA level and gene level

Scope of Genetics: Chromosome level

Scope of Genetics

Karyotype

= the chromosome
complement of a cell or
species
= often represented by
an arrangement of
metaphase
chromosomes
according to their
lengths and the
position of their
centromeres

Karyotype level

Scope of Genetics

Karyotype level

Scopeof Genetics

Karyotype level

Scope of Genetics: Family Level

Scope of Genetics: Population Level

Scope of Genetics:
Topics studied in genetics overlap directly with

Areas of Genetics
Three general areas:
1. Classical Genetics
2. Molecular Genetics
3. Population and Evolutionary
Genetics

Areas of Genetics

Classical Genetics concerned with genes,

mutations, and phenotypes; specifically:

1.

transmission of genes to the next

generation through meiosis;
methods that generate mutations and
identify mutants;
patterns of inheritance to produce a specific
trait or phenotype.

2.

3.

Areas of Genetics

Molecular Genetics

- the study of the structure, replication, and

expression of the genetic material
- also includes the methods involved in
manipulating the expression and analysis of
the genetic material (recombinant DNA
technology and genomics)

Areas of Genetics

Population and Evolutionary

Genetics
- study of the mechanisms that result

in changes in allele frequencies in

populations over time and the
consequencies of those changes

Fields of Genetic Studies

(subdivisions wherein a geneticist can become an authority)
1.

Cytogenetics

2.

Biochemical genetics merging of

3.
4.
5.

6.

genetics

merging of cytology with

-

genetics with biochemistry

Molecular genetics merging of genetics
with molecular biology
Population genetics study of genetics
at the population level
Microbial genetics study of genetics in
microorganisms such as bacterial genetics

Human genetics study of genetics in

human beings

Fields of Genetic Studies

7. Quantitative Genetics the study of heredity and

variation of measurable traits (height, weight, color

intensity, etc.) that depend on the cumulative action of
many genes, each producing a small effect on the
phenotype; such traits are analyzed and characterized
using statistical methods
8. Evolutionary Genetics deals with genetic basis of
evolutionary changes and relationships
9. Medical genetics deals with illnesses or diseases
that have a genetic cause or influenced by genes
10. Developmental Genetics deals with the genetic
basis of developmental stages and/or defects

Fields of Genetic Studies

11. Behavioral Genetics deals with the

genetic

basis of behavior with/without environmental

influence

12. Immunogenetics deals with the genetics of

the immune response

13. Agricultural Genetics deals with the genetics

of agricultural crops

14. Plant Genetics genetics of plants

15. Animal Genetics- genetics of animals

Fields of Genetics
16. Conservation Genetics

the application of
population, quantitative,and evolutionary genetic principles to
preserve groups of organisms; it also provides guidance for the
sustainable use of the earths genetic resources to guarantee
food security for present and future generations

17. Ecological Genetics

the application of quantitative

genetics in ecology; it is the study of the ecological interactions of
organisms with their biotic and abiotic environment

Fields of Genetics
18. Genomics the analysis of the DNA content

and gene organization in and between organisms

19.

Proteomics the study of all the proteins

expressed by the individual or organism

20. Bioinformatics deals with the comparison and

analysis of DNA sequences

History of Genetics
Before 1860:
Discovery of the cell
and the nucleus

Hippocratic school of
thought into the 18th
century persisted
offsprings are preformed
inside the gametes

History of Genetics: Before 1860

William Harvey (1600) substances in the gametes produce the

adult structure

Robert Hooke (1665) coined the term cell to describe

structures observed in cork under a microscope

Anton van Leeuwenhoek (1674-1683) - produced simple

microscopes; discovered living organisms in rainwater

Jan Purkinje (1830) first described the nucleus within the cell

Robert Brown (1831) coined the term nucleus

Hugo von Mohl (1835-1839) described mitosis in a cell

Rudolf Virchow (1858) summed up the concept of the cell

theory with all cells come from pre-existing cells

History of Genetics
1860-1900: Mendelian Traits and Observation
of Chromosomes

Gregor Mendel published his work in 1866 wherein he

described the statistical patterns of heritable phenotypes and
proposed the theory that factors (genes) in the germ cells
formed the basis of inheritance patterns
Hugo de Vries, Carl Correns, and Erich von Tschermak (1900)
independently duplicated Mendels work and Mendels work
became accepted
Oscar Hertwig (1875) described the fusion of egg and sperm to
form the zygote
Walther Flemming (1879-1885) used aniline dyes to view and
describe chromosomes during meiosis
August Weismann (1885) stated that the inheritance of traits
is based exclusively in the nucleus
Heinrich Waldeyer (1888) first used the term chromosome
Hertwig and Boveri (1890) described the process of meiosis in
detail

History of Genetics
1900-1944: Start of modern genetics as a field of
science

Development of the Chromosome Theory - stated that

chromosomes are linear arrays of genes that contained the
genetic information required by living organisms
Walter Sutton (1902) hypothesized that the behavior of
chromosomes during meiosis explained Mendels rules of
inheritance
T. H. Morgan, N. M. Stevens and B. Mawr (1905 ) investigated
sex detemination in mealworms and dicovered X and Y
chromosomes
T. H Morgan (1911) demonstrated that genes producing white
eyes, yellow body and miniature wings in Drosophila are located
on the X chromosome
Alfred Sturtevant (1913) used Drosophila to create the first
genetic map which demonstrated that genes existed in a linear
order on chromosomes

History of Genetics

Calvin Bridges and T.H. Morgan (1914) described

nondisjunction of Drosophila sex chromosomes to prove the

chromosomal theory of inheritance

Lewis Stadler and Hermann Muller (1927) showed that genes

can be mutated artificially by X-rays

William Bateson first coined the term F1, F2, heterozygote,

homozygote and allele in 1902. He created the term genetics in

1905.
Wilhelm Johannsen (1909) introduced the terms genotype,
phenotype and gene

R.A. Fisher, Sewall Wright, and J.B.S. Haldane (between 1930

and 1932) developed the algebraic foundations for our
understanding of the process of evolution

Salvador Luria and Max Delbruck (1943) demonstrated that

bacteria have genetic systems and phenotypes that could be
studied

History of Genetics

1944 to present: Discovery of DNA, RNA and era of

molecular genetics
Oswald Avery and colleagues (1944) and Alfred Hershey and
Martha Chase (1952) showed conclusively in their
experiments that DNA or deoxyribonucleic acid was the
genetic material
James Watson and Francis Crick (1953) worked out the DNA
structure based on experimental data
Werner Arber, Hamilton Smith, Daniel Nathans and colleagues
(between 1968 and 1973) discovered and described
restriction endonucleases, the enzymes that can cut DNA at
specific sites
Paul Berg (1972) first to construct a recombinant DNA
molecule containing parts of DNA from different species
Since 1972, many scientists have cloned numerous genes
including genes that correspond to inherited diseases

History of Genetics

1995 Haemophilus influenza was the first organism to have

its genome sequenced
2001 human genome was sequenced and published
September 2007- 634 different organisms have had their
complete genomes sequenced and published
1997 first transgenic cow, named Rosie, was created
1996 first mammal was cloned, a sheep named Dolly
Dolly

Since then, pigs, mules, cattle, cats and dogs are some of the
animals that have been cloned; cloned animals can be used for
the study of specific diseases, the expression of
pharmaceuticals, and the isolation of tissues and organs for
human use.

Applications of Genetics
1.

Genetic improvement of crop

plants or plant breeding
- planned hybridization or breeding work has
developed high-yielding varieties of
crop plants with specific desirable traits

Applications of Genetics: Plant Breeding

Applications of Genetics: Plant Breeding

Applications of Genetics: Plant Breeding

Plant Breeding

Applications of Genetics
2. Genetic
improvement
of animals
(animal
breeding)
- specific
animal breeds
or genotypes
have been
produced for
specific
purposes

Animal breeding

Application of genetics

Animal breeding

Applications of Genetics
3. In the field of
medicine
Determination or
study of genetic
diseases in
individuals either
for clinical
diagnosis or for
treatment
- these are diverse
group of disorders
caused by
mutations and
chromosome
abnormalities

Genetics in the medical field

Genetics in medicine

In Medicine

Karyotype

Application of Genetics in Medicine

Applications of Genetics
5. Genotoxicity testing
Genotoxicity refers to the detection of agents
that will damage DNA and hence cause mutations.
Commercial tests can use animal experiments, but
these are largely replaced by in vitro systems utilizing
bacteria or animal cells in tissue culture.
The tests used are Ames test, cell line mutation tests,
and cytogenetic tests.

Applications of Genetics
6. Gene therapy treatment of a genetic disorder
by the introduction of functional copies of the gene
responsible for the disorder/disease into the patient.
Two types:
1. in vivo therapy carried out by introducing functional
copies of the gene into the patient and hoping that the genes
will find an appropriate target cell to cure the disorder/dissease.
2. ex vivo therapy cells are removed from the patient,
manipulated in cell culture, and then returned to the patient.

Applications of Genetics
7. Genetic counseling
- the geneticist studies the genetic
background of couples who want to have
children and then advise them on the
probabilities of their having children with
specific inherited traits; the prospective
parents can then decide whether to proceed
with a pregnancy or not, especially if prenatal
testing of the unborn has also been done.

Application of Genetics: Genetic Counseling

Example

Genetic counseling

Applications of Genetics
8. Legal applications/court cases

- genetic data can be used as evidence in

legal battles concerning parentage and also
as forensic evidence in the scenes of
crimes
- for example, blood types is an inherited
trait that can provide evidence of
parentage; DNA fingerprinting is another

DNA Fingerprinting

DNA Fingerprinting

Applications of Genetics
9. Control of pests
- the sterile-insect-technique or SIT is a method of
producing genetically sterile males then followed by
the release of these genetically sterile males in the
insect population to compete with normal males.
(genetically)
sterile males X fertile females -- nonviable eggs
fertile males X fertile females -- viable eggs

Applications of Genetics
10. Forensic science

- forensic DNA samples from the scene of a

crime can be amplified (multiplied or

reproduced) millions of times by PCR
(polymerase chain reaction)

- the amplified DNA sequences can be

analyzed and used to identify individuals who
are present in the scene of the crime (DNA
fingerprinting)

Forensic science

Applications of Genetics
11. Analysis of DNA sequences amplified by PCR
- also used in tissue typing to match organ
donors with recipients
- also used in anthropology to study the
origins or races of people

Applications of Genetics
11. Genetic engineering
- this field of research uses gene transfer
techniques to produce recombinant proteins
and genetically modified organisms
- the commercial application of these
techniques has led to the development of
the biotechnology industry

Genetic Engineering

Genetic Engineering

Genetic Engineering: GMO rice