Benguet State University
College of Natural Sciences
DEPARTMENT OF BIOLOGY
La Trinidad, Benguet 2601
Course Code: SCI ED 116 (LECTURE)
Course Title: GENETICS (LECTURE)
Modular Learning Guide #1
Topic: COURSE OVERVIEW AND INTRODUCTIONS
A. Learning Outcomes
1. Explain the terminologies pertinent to genetic studies along with the importance and application
of genetics to human life.
2. Name and describe the different branches in the study of genes
3. Discuss the importance of protein in living organism and how it relates to genes.
B. Learning Content
Course Description:
Genetics deals with the principles of heredity and variation, the transmission of traits, behavior of
the genetic material and the chromosomes.
Rationale of the Course:
The most curious human mind can't help but wonder. "Whom do I look like?"
One of the outstanding achievements of modern Biology is the elucidation of the manner by
which genetic information is transferred from one generation to the next, leading to the
understanding of the mechanisms of heredity and variation.
The medical aspects of Genetics are among the recent discoveries; a lot of human diseases
which are hereditary in nature, and most of which don't have a cure, are now curable. Moreover,
understanding the nature and pattern of inheritance of some inheritable transmitted diseases
allows Genetic Counsellors to give meaningful information to young couples, enabling them to
make intelligent decisions regarding the planning of their future families.
Finally, the applications from the emerging field of Biotechnology are not only making
important contributions to Medicine; such as the diagnosis and treatment of diseases but also in
Agriculture, for the development of genetically modified organisms (GMOs), resulting to new
varieties of plants and animals for human consumption. Hence, Genetics is involved in all
important facets of human life. These are the many reasons which make Genetics a very
interesting course to Education students.
Why do you need to study Genetics?
Aside from the many reasons indicated in the course rationale (IF YOU HAVE READ IT…) others are
being discussed in this module.
INTRODUCTION
Genetics- a branch of biology that deals with the heredity and variation of organisms
- a branch of biology that deals with the transfer of traits from one generation to the
next (heredity)
* Variations can be genetic in nature or it can be caused by any environmental factors (role of
the environment).
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A. Branches of Genetics (Fields of Genetic Study)
1. Classical genetics
- Also known as Mendelian genetics
- Deals with the basic principles of genetics wherein genes serve as units or as factors
- Example in garden pea seed, G is the allele (alternative form of a gene) for color green
and g is the allele for yellow seed.
2. Cytogenetics
- Also known as chromosomal genetics
- Genes are known as units and chromosomes as carriers
*The number of chromosomes determine what species the organism belong. For example,
normal humans have 46 chromosomes. In addition, chromosomal number and structure
determine the possible disorders of certain organisms. Thus, any addition or subtraction on the
number of chromosomes or any changes in the structure of chromosomes indicates disorder.
Example of disorders include Down syndrome, Klinefelter syndrome and Jacob’s syndrome.
3. Molecular genetics
- Considers the DNA structures of chromosome
4. Population genetics
- It involves the study of traits/ characteristics in terms of population/ group.
The basic instrument is survey.
5. Pedigree analysis
- Study of family trees/history
6. Twin studies
- Involves a long- term study for twins
- It determines if the traits are caused by genes or environment.
7. Medicolegal genetics
- It involves the use of genetic concepts that will solve problems that is related to health
and law.
Example: disputed paternity, inheritance, baby switching, crimes
8. Genetic counseling
Example: advising couple not to have children
Methods of Genetic Study
1. Genetic test
Categories:
a. Blood test
b. DNA test
c. Antibody test
2. Population survey
3. Pedigree analysis
4. Breeding (sex) experiments
Consider the qualities of a good breeding organism:
a. exhibits variations (differences)
b. exhibits/ shows recombinations (must be able to mix the traits of the parent in the offspring/s)
c. shows controlled matings
*Choose an organism that will allow backcrossing (the offspring will have sex with the parents).
d. With large number of offspring
e. With short life span
f. With short sexual maturity
g. Ease of handling (the organism should be easy to be taken care of)
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READ ME!
Genetics is the study of' inheritance. Why are we each like our parents? Why do all organisms
have an astonishing similarity to their parents? The first geneticists were persons who observed that
"like begets like" and then used that basic observation to improve their lives. Domestication of wild
animals—dogs, cats, cattle— occurred when humans learned how to control the matings of
these species. Once animals were tamed, people could breed more of those that they found
most useful. Docile cattle rise to more docile cattle, and control of the lineage remained with
humans, Cultivation of crops required that seeds of one generation were saved to produce the
next generation—and the seeds that were saved were from the largest, healthiest plants,
Genetics, however, involves a fundamental paradox: we are like our parents, but we are also
different. Each person has many features that are similar to each parent, but also many features
that resemble neither parent. Dark-haired parents usually have children with dark hair, but they
often have blond children as well. Some seeds from the tallest plants give rise to short plants.
Brown cows can produce white calves. How can this be?
While plant breeding and animal breeding have been practiced successfully for at least as
long as humans have recorded their history, an understanding of the mechanisms of
inheritance—genetic mechanisms—was almost nonexistent until about a century ago. In 1866, an
Austrian monk named Gregor Mendel published the first paper accurately describing aspects of
the hereditary mechanism ("Experiments with Plant Hybrids"). These studies were mostly ignored by
the scientific community until 1900, when the importance of Mendel's work was independently
recognized by three biologists, Hugo de Vries in Holland, Carl Correns in Germany, and Erich von
Tschermak in Austria. Since 1900, genetic knowledge has expanded with increasing rapidity
Genetics is a science that is truly a child of the twentieth century.
B. The Hereditary Mechanism
Long before Mendel's experiments, some scientists believed that tiny particles carrying
hereditary information were somehow transmitted from parent to offspring, Mendel proved that
such particles exist and, furthermore, that for some specific characteristics each individual
receives one hereditary particle from each parent. These hereditary particles are now called
genes. Mendel showed that flower color in garden peas, for example, was governed by two
genes, one from each parent, Each organism possesses thousands of genes, half of which are
contributed by each parent. Humans are estimated to have about 50,000- 100,000 genes.
Genetics is the study of the structure and function of genes and of the transmission of genes
between generations.
One of the most important scientific discoveries of the twentieth century was the
establishment of the physical nature of the gene. In a classic paper published in 1953, James
Watson and Francis Crick proposed a structure for a complex molecule called deoxyribonucleic
acid or simply called DNA. They suggested that DNA was a long double helix, like a twisted
ladder. Each of the uprights is a chain of alternating sugar molecules and phosphate molecules.
The two uprights are linked together by steps of nitrogenous bases, much like the rungs of a
ladder. Since the dramatic publication of the Watson-Crick model, further experimentation has
confirmed the double helical nature of most DNA. DNA and RNA (a very similar molecule)
constitute the genetic material of all living organisms.
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Image source: [Link]
between-dna-and-rna-296719
Watson and Crick also proposed that the sequence of nitrogenous bases along the DNA
molecule (the rungs of the ladder) carries the enormous amount of genetic information necessary
for life. Their proposal turned out to be correct and DNA is now often called an informational
macromolecule—that is, DNA is a very long molecule that contains information encoded in its
structure. The structure of DNA thus encodes the genetic message. A gene is a segment of DNA,
and a DNA molecule may have a sequence of many genes along its length. The information
encoded in each gene is used to direct the production or synthesis of other types of molecules.
The interaction of genes with the external environment and with the molecular products of other
genes produces a living organism.
In addition to describing the mechanism by which DNA encodes the information of life, the
Watson-Crick model also predicted other key features of the genetic mechanism: replication, a
method for accurate self-reproduction of the genetic material; and mutation, the mechanism of
genetic change. In conjunction with other available knowledge of reproduction, the Watson-
Crick model also explained how genetic information is passed between generations, transmission
genetics.
The enormous amount of information encoded in one hundred thousand or more genes
makes apparent the precise control that the genes exert on the organism—its development,
structure, and function. This recognition has in turn altered the science of genetics. The study of
transmission of genes is no longer the only goal of geneticists. Many geneticists now study gene
function and gene regulation: How is the information in genes used to influence and regulate
various aspects of the life of the organism? How are the genes themselves turned on and off?
One aspect of transmission genetics has important implications for all of biology. Some genes
are transmitted to succeeding generations far more frequently than other genes, which may be
transmitted less efficiently. Genes that increase an individual's capacity to survive and reproduce
will spread throughout a species, while other genes may disappear.
READ ME!
The importance of genetics
Knowledge of the hereditary mechanism is essential information for any informed individual. To
a large extent, the development of civilization has coincided with the capacity of humans to control
their basic needs such as food and shelter. The enormous expansion of the human population in this
century is directly related to genetic knowledge that allowed vast improvement in productivity of
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domesticated plant species used for food—rice, wheat, and corn, in particular. Genetic knowledge
has also been a key component of the revolution in health and medical care in this century.
In the past decade, bioengineering, the ability to directly alter the genetic material of an
organism, has begun to be applied to many aspects of human life. In the coming
decades/bioengineering will play a large and increasing role in meeting fundamental human needs.
Bioengineering will increase food, fiber, and wood production, and will be used to combat many
diseases. These gains, however, will often have social costs, which will present society with complex
questions. To deal with the exciting changes ahead, we will all need a basic understanding of
genetics and the many ways in which the science of genetics affects our daily lives.
*Health
About 3-5% of the world population—200 million people—are estimated to be afflicted by
serious genetic disease. Millions more have genetic anomalies that cause relatively few problems in
their lives. Knowledge of the genetic basis of diseases such phenylketonuria (PKU) has already
allowed treatment. Other conditions such as Down’s syndrome are clearly identified as genetic
conditions though no treatment has yet been developed. However, for both PKU and Down’s
syndrome, as well as many other diseases, genetic testing and counseling can prevent the
recurrence of certain genetic conditions.
Advances in medical genetics have also been accompanied by new problems. The wide use
of antibiotics such as penicillin has led to the evolution of strains disease-causing organisms resistant
to these drugs. Thus, recent technologies have actually helped produce new organisms that are less
susceptible to treatment. Bioengineering not only offers the hope of creating more effective
antibiotics, but also of producing useful chemicals, for example, human growth hormone, which is
now being used to treat some forms of dwarfism. Eventually, it should be possible to directly alter
defective human genes, the only true cure for a genetic disease.
Such technologies challenge human ethical codes. Many people fear that changing human
genes is "playing God" and should thus be forbidden. Others argue that gene therapy is no different
in principle from more conventional therapies and that withholding such treatment from the ill would
be immoral. Even the ability to diagnose genetic disease presents difficult ethical choices. Should the
results of screening for genetic diseases be made available to employers, insurance companies, or a
future spouse?
*Reproduction
Widely applied contemporary reproductive technologies such as artificial insemination and in
vitro fertilization are not strictly genetic techniques. They do, however, raise numerous ethical
questions and point to the widely held concern that identical copies of particular persons can be
"mass produced," or cloned. Although cloning of humans may not be possible for some decades, it
will certainly be subject to very close political and ethical scrutiny.
In the meantime, ethical aspects of present technologies present difficult choices. In vitro
fertilization (IVF) is increasingly used to treat infertility, but it is expensive, inefficient, and appropriate
only for a relatively uncommon type of infertility. Should the treatment be limited only to the affluent,
who can afford it? Might the money spent on IVF be used more responsibly to prevent or treat more
common types of infertility? IVF results in many excess frozen embryos. Should experimentation be
allowed on these embryos?
*Agriculture
Human life depends upon thousands of other species. Like most animals, humans use plants
and animals for food. Additionally, we rely upon other species for countless, often highly imaginative,
purposes: shelter, clothing, medicinal and recreational drugs, companionship, transportation, musical
instruments, decoration, scientific experimentation, communication, and recreation.
An enormous variety of breeds of many species has been developed by the ingenuity of plant
and animal breeders. Since World War II, plant breeding has reached its culmination in programs of
the Green Revolution, which have developed new, highly productive varieties of important grain
crops for use in third world countries. These programs have been scientifically successful--grain
production has increased greatly. They have often had important social sequences, as well, which
are widely debated. Ancient social systems have changed to meet new agricultural practices, and
hunger and famine remain. Bioengineering will allow continued and probably dramatic increases in
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agricultural productivity. Ensuring that larger food supplies leads to a reduction in world hunger will
involve all of us, not only geneticists and farmers.
*Conservation
Genetic variation is a fundamental natural resource. Genetic differences exist both between
different species and within the same species (between individuals, populations, and geographical
races). Unique genetic types are often the basis for major advances in agriculturally important
species, Genes for such important traits as disease resistance and increased productivity are
identified from species and individuals in nature, and then introduced to domestic strains by
hybridization. Natural genetic diversity is so important for supporting the development of new
varieties of grain crops that gene banks containing hundreds of thousands of specimens of wild rice,
wheat, and maize have been established in some tropical countries. Wild plant species are often the
source of new drugs, as well.
C. The Chromosome Theory of Inheritance: Uniting Mendel and Meiosis
Mendel did his experiments before the structure and role of chromosomes were known. About 20
years after his work was published, advances in microscopy allowed researchers to identify
chromosomes and establish that, in most eukaryotes, members of each species have a characteristic
number of chromosomes called the diploid number (2n) in most of their cells. For example, humans
have a diploid number of 46. Chromosomes in diploid cells exist in pairs, called homologous
chromosomes.
Image source: [Link]
illustration
Researchers in the last decades of the nineteenth century also described chromosome
behavior during two forms of cell division, mitosis and meiosis. In mitosis, chromosomes are copied
and distributed so that each daughter cell receives a diploid set of chromosomes identical to those
in the parental cell. Meiosis is associated with gamete formation. Cells produced by meiosis receive
only one chromosome from each chromosome pair, and the resulting number of chromosomes is
called the haploid (n) number. This reduction in chromosome number is essential if the offspring
arising from the fusion of egg and sperm are to maintain the constant number of chromosomes
characteristic of their parents and other members of their species.
Early in the twentieth century, Walter Sutton and Theodor Boveri independently noted that the
behavior of chromosomes during meiosis is identical to the behavior of genes during gamete
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formation described by Mendel. For example, genes and chromosomes exist in pairs, and members
of a gene pair and members of a chromosome pair separate from each other during gamete
formation. Based on these parallels, Sutton and Boveri each proposed that genes are carried on
chromosomes. They independently formulated the chromosome theory of inheritance, which states
that inherited traits are controlled by genes residing on chromosomes faithfully transmitted through
gametes, maintaining genetic continuity from generation to generation.
Genetic Variation
About the same time that the chromosome theory of inheritance was proposed, scientists
began studying the inheritance of traits in the fruit fly, Drosophila melanogaster. Early in this work, a
white-eyed fly was discovered among normal (wild-type) red-eyed flies. This variant was produced
by a mutation in one of the genes controlling eye color. Mutations are defined as any heritable
change in the DNA sequence and are the source of all genetic variation.
The white-eye variant discovered in Drosophila is an allele of a gene controlling eye color.
Alleles are defined as alternative forms of a gene. Different alleles may produce differences in the
observable features, or phenotype, of an organism. The set of alleles for a given trait carried by an
organism is called the genotype. Using mutant genes as markers, geneticists can map the location of
genes on chromosomes.
D. Discovery of the Double Helix Launched the Era of Molecular Genetics
Once it was accepted that DNA carries genetic information, efforts were focused on deciphering
the structure of the DNA molecule and the mechanism by which information stored in it produces a
phenotype.
The Structure of DNA and RNA
One of the great discoveries of the twentieth century was made by James Watson and
Francis Crick, who described the structure of DNA. DNA is a long, ladder-like macromolecule that
twists to form a double helix. Each linear strand of the helix is made up of subunits called nucleotides.
In DNA, there are four different nucleotides, each of which contains a nitrogenous base, abbreviated
A (adenine), G (guanine), T (thymine), and C (cytosine). These four bases, in various sequence
combinations ultimately encode genetic information. The two strands of DNA are exact
complements of one another so that the rungs of the ladder in the double helix always consist of A=T
and G=C base pairs.
Another nucleic acid, RNA, is chemically similar to DNA but contains a different sugar (ribose
rather than deoxyribose) in its nucleotides and contains the nitrogenous base uracil in place of
thymine. RNA, however, is generally a single-stranded molecule
Gene Expression: From DNA to Phenotype
The genetic information encoded in the order of nucleotides in DNA is expressed in a series of
steps that results in the formation of a functional gene product. In the majority of cases, this product
is a protein. In eukaryotic cells, the process leading to protein production begins in the nucleus with
transcription, a process in which the nucleotide sequence in one strand of DNA is used to construct
a complementary RNA sequence. Once an RNA molecule is produced, it moves to the cytoplasm,
where the RNA—called messenger RNA, or mRNA for short—binds to ribosomes. The synthesis of
proteins under the direction of mRNA is called translation. The information encoded in mRNA (called
the genetic code) consists of a linear series of nucleotide triplets. Each triplet, called a codon, is
complementary to the information stored in DNA and specifies the insertion of a specific amino acid
into a protein. Proteins are polymers made up of amino acid monomers. There are 20 different amino
acids commonly found in proteins.
Protein assembly is accomplished with the aid of adapter molecules called transfer RNA
(tRNA). Within the ribosome, tRNAs recognize the information encoded in the mRNA codons and
carry the proper amino acids for construction of the protein during translation.
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Proteins and Biological Function
In most cases, proteins are the end products of gene expression. The diversity of proteins and
the biological functions they perform—the diversity of life itself—arises from the fact that proteins are
made from combinations of 20 different amino acids. Consider that a protein chain containing 100
amino acids can have at each position any one of 20 amino acids; the number of possible different
100 amino acid proteins, each with a unique sequence, is therefore equal to
20100
Obviously, proteins are molecules with the potential for enormous structural diversity and serve
as the mainstay of biological systems.
Enzymes form the largest category of proteins. These molecules serve as biological catalysts,
lowering the energy of activation in reactions and allowing cellular metabolism to proceed at body
temperature.
Proteins other than enzymes are critical components of cells and organisms. These include
hemoglobin, the oxygen-binding molecule in red blood cells; insulin, a pancreatic hormone;
collagen, a connective tissue molecule; and actin and myosin, the contractile muscle proteins. A
protein's shape and chemical behavior are determined by its linear sequence of amino acids, which
in turn are dictated by the stored information in the DNA of a gene that is transferred to RNA, which
then directs the protein's synthesis.
C. Learning Activities
(To be announced soon….)
D. Assessment
(To be announced soon….)
E. References
KLUG, W.S., et. al. 2017. Essentials of Genetics. 9th edition. Pearson Education Limited. Harlow,
England. Pp. 20-22.
MAXSON, L.R. and C.H. DAUGHERTY. 1989. Genetics: A Human Perspective. W.m. C. Brown
Publishers. Pp. 6-11.
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