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Lecture One
Genetics: The Science of Heredity and Variation

Learning Objectives

Upon completion of this module you are expected to:

1. Define Genetics.
2. Compare and contrast heredity and variation.
3. Enumerate the different fields of genetics
4. Discuss the different methods used in genetic study.
5. Trace the historical development in Genetics.
6. Explain the practical applications of Genetics.
7. Construct a family tree or pedigree using the assigned human trait.

The term Genetics was coined by An English Biologist William Bateson in 1905. It is
derived from the Greek word gen which means to produce, to become or to grow into something.
Genetics can be defined as a field of biological sciences that deals with the study of heredity and
variation in all organisms. Heredity is the transmission of genes from parents to offspring from
generation to generation through the process of reproduction. On the other hand, variation refers
to differences among organisms belonging to the same species. Variation among individuals of
the same species is very common. The science of genetics examines how the genes are passed
on from parents to offspring and attempt to explain the observed similarities and differences
among related organisms.

Fields of Genetics
Genetics as a field of biological sciences can be divided into different fields or disciplines
namely: classical genetics, molecular genetics, population genetics, quantitative genetics and
cytogenetics.

1. Classical Genetics is the oldest field of genetics which is concern with the transmission
of traits from generation to generation.
2. Molecular Genetics deals with structure and function of genes at the molecular level.
3. Population Genetics studies the distribution and behavior of genes within and between
populations.
4. Cytogenetics is a combination of cytology and genetics. Literally, it is the study of the
genetics of the cell. It is concern with the study of the structure and function of the cell,
especially the chromosomes.
5. Quantitative Genetics is concern with the study of continuously measured characters or
traits such as height, weight, yield etc.
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Types of Variation

No two organisms are exactly alike. They exhibit certain degree of differences. Variation
is important because it allows some individuals to adapt to the changing environment. It also
causes evolution. The variation among individuals can be categorized into morphological,
physiological, behavioral and sexual.

1. Morphological variation refers to the difference in appearance, form, and structure of

the body. In animals, it can be seen as difference in the shape of the face, length of the
fingers, body size, size of the ears etc. In plants, it could be observed as difference in size
and color of the leaves, length of the stem, color of the flower and shape and color of the
seeds.

2. Physiological variation is the difference in the functioning of the body parts. This type
of variation may include ability to taste chemicals, detect odor, distinguish color,
differences in hormones and blood pressures, etc.

3. Behavioral variation is the difference in the pattern of reactions of an organism to its

environment (Umaly and Roderos, 1986). Individual animals behave differently from
each other for myriad interrelated intrinsic and extrinsic reasons (Shelton and Martins,
2017). Ability to learn as influenced by individual personality type, feeding, mating and
parental care are examples of behavioral variation.

4. Sexual Variation or Sexual Dimorphism is the difference between male and female
such as size, color, voice etc. Table 1.1 presents the principal differences between male
and female drosophila.

Table 1.1 Differences between male and female fruit fly (Drosophila melanogaster)

Criteria Male Female

1. Over-all size smaller larger
2. Size of the abdomen shorter longer
3. Shape of tip of abdomen round curved
4. Sex combs first tarsal segment of the sex combs are absent
first thoracic legs bears sex
combs
5. Shape of tip of abdomen short rounded abdomen larger pointed abdomen
6. External reproductive organ circles of darkly tip of the female
pigmented parts abdomen is lightly
colored and pointed
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Causes of Variation

The observed variation among individuals is due to genetics, environment and interaction
between genetics and environment.

1. Genotype
Genetic variation is the difference in the genetic composition of the organism. Below is a
summary of different causes of genetic variation within individual and within the population.

1.1 Within individual

1.1.1 mutations – changes in genetic material
1.1.2 meiosis – random assortment of chromosomes and crossing over
1.1.3 gamete combination – random fusion of sperm and egg cell during fertilization

1.2 Within population

1.2.1 gene flow – immigration and emigration
1.2.2 random genetic drift – bottle neck and founder effect
1.2.3 natural selection – some variations provides individual with increase chance of
survival.

2. Environment
Environment is the surrounding or conditions in which the organisms have been
developed. Environmental factors may include temperature, food, light, lifestyle and other
external factors. Two individuals who are genetically identical can be phenotypically different
due to differences in environment.

3. Interaction between genotype and environment

According to Ward and Lindhiemer (2009) genotype and environment interactions are
situation in which environmental factors affect different individuals differently, depending upon
genotype, and in which genetic factors have differential effect, depending upon attributes of the
environment. is the combination of genetic and environment factors.

Methods Used in Genetic Study

1. Planned Breeding Experiment

This method is used to study the mode of inheritance of a certain characteristic trait.
Individuals exhibiting contrasting characters are crossed and the offspring are observed from
generation to generation.

2. Pedigree Analysis
Pedigree analysis is an approach to determine the mode of inheritance of a gene in human.
Pedigree or family tree is a diagram that depicts the inheritance of a trait through several
generations. Figure 1.2 shows a typical pedigree or family tree.
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Figure 1.2. Sample Pedigree (Source: National Human Genome Research Institute, USA)

3. Karyotyping
Karyotyping is a process to analyze the chromosome composition of the organism. It is
used to determine the normal chromosome number, establish new species and detect
chromosomal aberration. Figure 1.2 shows a karyogram of a normal male.

Figure 1.3. Human Karyotype

(Credit: National Cancer Institute, US Department of Health and Human Services)

4. Twin Study
Twin study is a method to determine the importance of environmental and genetic
influences for traits. It is conducted on identical (monozygotic) and fraternal (dizygotic) twins.
Identical twins are derived from a single zygote while fraternal twins result from fertilization of
two ova. High degree of concordance (both posses or are free of a particular trait) among
identical twins reared apart would mean greater roles of genes than environment while greater
concordance between fraternal twins reared together would mean greater role of the
environment.
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Brief History of Genetics

Year Scientists Contribution

1839 Matthias Scleiden and Theodore Proposed the Cell Theory
Schwann
1859 Charles Darwin Published “On the Origin of the Species
1866 Gregor Mendel Published “ On the Pattern of Inheritance in Pea
Plant. He is acknowledged as the father of genetics
1869 Friedrich Miesher Discovered DNA
1897 Walter Flemming Published the description of mitosis
1900 Carl Correns (Germany, Erick Rediscovered Mendel’s work
Von Tschermak (Austria) and
Hugo de Vries (Netherlands)
1902 Walter Sutton Proposed that the genes ae located on the
chromosomes
1902 Walter Sutton and Theodor Formulated the Chromosome Theory
Boveri
1909 W. Johannsen First used the term gene.
1910 Thomas Morgan Discovered the first mutation in fruit flies
1944 Oswald Avery, Colin McLeod Identified DNA as the hereditary material
and Mclyn MacCarty
1953 James Watson and Francis Crick, Proposed the molecular structure of DNA
1958 Matthew Messelson and Franklin Demonstrated the semi conservative mode of
Stahl replication of DNA
1961 Francois Jacob and Jacques Provided genetic evidence for a method of gene
Monod regulation in bacteria now called operon
1986 Kary Mullis Developed polymerase chain reaction (PCR) which
allows production of million copies of DNA is short
period of time.

Application of Genetics

Ramirez et al. (2019) listed four applications of Genetics namely: plant and animal
improvement, medicine, legal application and genetic counselling.

1. Plant and Animal Improvement

The principles of Genetics had been used to improve plants and animals through selective
breeding. Several varieties of plants and breeds of domestic animals with genetically superior
characteristics have been developed. At present we have high yielding, insect and pest resistant
and drought tolerant varieties of rice and chicken with shorter life cycle.

2. Medicine
Advances in Genetics have made it possible to identify diseases and abnormalities with
genetic basis. This information is very important so that preventive measures can be undertaken.
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3. Legal Applications
Genetics may be used in lawsuit such as paternity testing, forensics and identification of
individual. DNA profiling can be used to establish or rule out identity, relationship or ancestry.

4. Genetic Counseling
The patients or relatives at risk of an inherited disorder are advised of the consequences
and nature of the disorder, the probability of developing or transmitting it, and the options open
to them in management and family planning.

References

1. Chanco, CR. 1996. Handbook in Genetics. 142 pp.

2. Pierce, BA. 2012. Genetics – A Conceptual Approach. WH Freeman Co. NY. pp
2. Ramirez DR, MS Mendioro and RP Laude. 2019. Lectures in Genetics 11th ed. 7 Lakes Printing
Press, San Pablo City. 293 pp
3. Umaly, RC and RR Roderos. 1986. Lecture Notes on Modern Genetics. Vibal Publishing
House. Inc. Quezon City. 270 pp
4. Ward, K and MD Lindheimer. 2009. Genetic factors in the etiology of preeclampsia/eclampsia.
Chesley’s Hypertensive Disorders in Pregnancy. Academic Press.