Republic of the Philippines

PALAWAN STATE UNIVERSITY

College of Community Resource and Development
Quezon Campus

LEARNING MODULE IN CC7-BIO 1

PRINCIPLES OF GENETICS
 MODULE 1

GENETICS: THE SCIENCE OF HEREDITY AND

VARIATION
©Google

Prepared by:

EMMA C. PESITO
Instructor

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OVERVIEW

Genetics is the study of how living things receive common traits from previous
generations. These traits are described by the genetic information carried by a molecule
called DNA. A gene is a hereditary unit consisting of DNA that occupies a spot on a
chromosome and determines a characteristic in an organism.

Understanding the underlying concepts of human genetics and the role of genes,
behavior, and the environment will be important to appropriately collecting and applying
genetic information and technologies during clinical care. This chapter provides some
fundamental information about basic genetic concepts including cell structure, the
molecular and biochemical basis of disease, major types of genetic disease, laws of
inheritance, and impact of genetic variation.

LEARNING OUTCOMES

Upon completion of this module, you will be able to:

 Define Genetics and its importance;

 Enumerate and discuss the scientists who contributed in the field of genetics and
application of genetics in plants and animals; and

 Understand and familiarize the basic terminologies in genetics.

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PSU Vision

An internationally recognized university that provides

relevant and innovative education and research for lifelong
learning and sustainable development.

PSU Mission

The Palawan State University is committed to

upgrade peoples‟ quality of life by providing
education opportunities through excellent instruction,
research and innovation, extension, production
services, and transnational collaborations.

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DEFINITION OF GENETICS

Genetics is a field of biology that studies how traits are passed from parents to their
offspring. The passing of traits from parents to offspring is known as heredity; therefore,
genetics is the study of heredity. This introduction to genetics takes you through the
basic components of genetics such as DNA, genes, chromosomes and genetic
inheritance.

Genetics is built around molecules called DNA. DNA molecules hold all the genetic
information for an organism. It provides cells with the information they need to perform
tasks that allow an organism to grow, survive and reproduce. A gene is one particular
section of a DNA molecule that tells a cell to perform one specific task.

Heredity is what makes children look like their parents. During reproduction, DNA is
replicated and passed from a parent to their offspring. This inheritance of genetic
material by offspring influences the appearance and behavior of the offspring. The
environment that an organism lives in can also influence how genes are expressed.

Inheritance is the backbone of genetics and is an important topic to cover in an

introduction to genetics. Long before DNA had been discovered and the word „genetics‟
had been invented; people were studying the inheritance of traits from one generation to
the next.

Genetic inheritance occurs both in sexual reproduction and asexual reproduction. In

sexual reproduction, two organisms contribute DNA to produce a new organism. In
asexual reproduction, one organism provides the entire DNA and produces a clone of
them. In either, genetic material is passed from one generation to the next.

Experiments performed by a monk named Gregor Mendel provided the foundations of

our current understanding of how genetic material is passed from parents to their
offspring.

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 Gregor Johann Mendel

Mendel carried out breeding experiments in his monastery‟s garden to test inheritance
patterns. He selectively cross-bred common pea plants (Pisum sativum) with selected
traits over several generations. After crossing two plants which differed in a single trait
(tall stems vs. short stems, round peas vs. wrinkled peas, purple flowers vs. white
flowers, etc), Mendel discovered that the next generation, the “F1” (first filial
generation), was comprised entirely of individuals exhibiting only one of the
traits. However, when this generation was interbred, its offspring, the “F2” (second filial
generation), showed a 3:1 ratio- three individuals had the same trait as one parent and
one individual had the other parent‟s trait.

The significance of Mendel‟s work was unappreciated and mostly unknown until 1990
when it was independently rediscovered by three biologists: Hugo de Vries, Carl
Correns, and Erik von Tschermak. From 1866 to 1990, other fields of biology,
particularly cytology, had developed so that in 1902, Walter S. Sutton proposed the
chromosome theory of inheritance, in which he postulated that the newly rediscovered
hereditary factors were physically located on the chromosomes. This was based mainly
on the parallel behavior between the pairs of factors and the pairs of chromosomes
during meiosis. This theory was important because it provided a mechanism of
transmission to explain the behavior of the newly discovered Mendelian factors.

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 Hugo de Vries Carl Correns Erik von Tschermak

GENETIC TERMINOLOGIES

Allele

An alternative form of a gene that occurs at the same locus on homologous

chromosomes, e.g., A, B, and O genes are alleles.

Aneuploidy

Having an abnormal number of chromosomes, i.e., not an exact multiple of the haploid
number. For example, Downs syndrome (three #21 chromosomes) or Klinefelter
syndrome (XXY males).

Anticodon

A sequence of three bases in tRNA that is complementary to a codon in mRNA. Enables

tRNA to sequence amino acids in the order specified by mRNA.

Autosome

A non-sex chromosome. Synonymous with somatic chromosomes (chromosome pairs 1-

22).

Chromosome

Rod-shaped structures within the cell nucleus that carry genes encoded by DNA.

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Cloned gene

A recombinant DNA molecule with the gene of interest. (Also see recombinant DNA.)

Co-dominant

Genes are co-dominant if both alleles are expressed in the heterozygous state, e.g., K
and k genes in the Kell BGS.

Codon

A sequence of three bases in DNA or RNA that codes for a single amino acid. Enables
specific proteins to be made by specific genes.

Deletion

An abnormality in which part of a chromosome (carrying genetic material) is lost.

Diploid number of chromosomes

The number of chromosomes found in somatic cells, which in humans is 46.

DNA

Deoxyribonucleic acid. Composed of nucleic acids, these molecules encode the genes
that allow genetic information to be passed to offspring.

Dominant gene

A gene is dominant if it is expressed when heterozygous but its allele is not, e.g. in the
Lewis system the Le gene is dominant (expressed in both Le Le and Le le genotypes)
and the le gene is recessive.

Gamete

A reproductive sex cell (ovum or sperm) with the haploid number (23) of chromosomes
that results from meiosis.

Gene

A segment of a DNA molecule that codes for the synthesis of a single polypeptide.

Gene interaction

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 The situation in which genes inherited at different loci interact to produce red cell
phenotypes, e.g., Le le genes interact with Hh and Se se genes to produce the various
Lewis red cell phenotypes.

Genome

Term used to denote the entire DNA sequence (gene content) of a gamete, person,
population, or species.

Genotype

All of the alleles present at the locus (or closely linked loci) of a blood group system,
indicating chromosomal alignment if appropriate, e.g., AO in the ABO BGS, CDe/cde in
the Rh BGS, or MS/Ns in the MNSs BGS. Genotypes are indicated by superscripts,
underlining, or italics.

Haploid number of chromosomes

The number of chromosomes found in sex cells, which in humans is 23.

Heterozygous

The situation in which allelic genes are different, e.g. the Kk genotype in the Kell BGS or
the Fya Fyb genotype in the Duffy BGS.

Homologous chromosomes

A matched pair of chromosomes, one from each parent, e.g., two #6 chromosomes.

Homozygous

The situation in which allelic genes are identical, e.g., the KK genotype or the Fya Fya
genotype.

HUGO

Acronym for Human Genome Organization, an international organization conceived in

1988 to co-ordinate the Human Genome Project.

Linkage

Genes are linked if they are on the same chromosome within a measurable distance of
each other and are normally inherited together, e.g., Lutheran and Secretor genes are
linked as are the Dd, Cc, Ee subloci in the Rh BGS.

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Locus

The location of allelic genes on the chromosome, e.g., A, B, and O genes occur at the
ABO locus. (Plural = loci)

Meiosis

The type of cell division that occurs in sex cells by which gametes having the haploid
number of chromosomes are produced from diploid cells.

Messenger RNA (mRNA)

Type of RNA polymerase using DNA as a template. Contains the codons that
encompass the genetic codes to be translated into protein.

Mitosis

Cell division that results in the formation of two cells, each with the same number of
chromosomes as the parent cells, i.e., cell division that forms all new cells except sex
cells.

Mutation

A permanent inheritable change in a single gene (point mutation) that results in the
existence of two or more alleles occurring at the same locus. Blood group polymorphism
has been caused by mutations occurring over long periods of time.

Nucleic acids

Polymers of phosphorylated nucleosides, the building blocks of DNA and RNA.

Pedigree

A diagram representing a family tree.

Phenotype

The antigens (traits) that result from those genes that are directly expressed (can be
directly antigen typed), e.g., group A in the ABO BGS or D+C+E- c+e+ in the Rh BGS.

Plasmid

Extrachromosomal circular DNA in bacteria. Plasmids can independently replicate and

encode a product for drug resistance or some other advantage. Used in molecular
genetics as vectors for cloned segments of DNA.
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Recessive

Genes are recessive if the phenotype that they code for is only expressed when the
genes are homozygous, e.g., le le genes, in the Lewis system or h h genes in the ABO
BGS.

Recombinant

A person who has a new combination of genes not found together on the chromosome
in either parent, e.g., an MS/Ns offspring whose parents are Ms/NS and MS/MS. A
recombinant results from crossing over in one parent.

Recombinant DNA

In molecular genetics, artificially made DNA composed of fragments of DNA from

different chromosomes (often from different species) that have been joined together
(spliced) by genetic engineering. For example, healthcare workers are routinely
vaccinated with a recombinant hepatitis B vaccine made by inserting a piece of the
hepatitis B virus genome (the part that codes for the HBsAg) into yeast cells via a
plasmid. The yeast cells then produce a large amount of HB sAg, which is purified into
the vaccine and stimulates the production of protective anti-HBs antibodies.

Ribosomal RNA (rRNA)

Type of RNA found in ribosomes, the site of protein synthesis in the cytoplasm.

Ribosomes

Complexes of rRNA and protein in cytoplasm that serve as platforms for translation for
mRNA into protein.

RNA

Ribonucleic acid. Nucleic acids that are formed using DNA as a template. Similar to DNA
except has ribose in place of deoxyribose and uracil in place of thymine. (Also see
messenger RNA, ribosomal RNA, and transfer RNA.)

Sex chromosomes

The chromosomes that determine sex. XX in females and XY in males.

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Sex-linked

An outdated term for genes on the X chromosome. Historically synonymous for X-linked
since, apart from genes essential for male sex determination, the Y chromosome
appears to have few recognized gene loci.

Transcription

Synthesis of single-stranded RNA by RNA polymerase using DNA as a template. The

process in the nucleus whereby DNA is transcribed into mRNA.

Transfer RNA (tRNA)

Type of RNA that facilitates translation of mRNA into protein. Contains anticodons that
provide the molecular link between the codons of mRNA and the amino acid sequences
of proteins.

Translation

The process of translating the codon sequence in mRNA into polypeptides with the help
of tRNA and ribosomes.

X-chromosome

The sex chromosome present in double dose in females (XX) and in single dose in
males (XY).

X-linked

Genes on the X chromosome, e.g., genes for hemophilia A, hemophilia B, and Xg a blood
group genes.

Y-chromosome

The sex chromosome present only in males (XY).

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REFERENCES

Books:

 Ayala, F. J and J.A Kiger, Jr. 1984. Modern Genetics (2 nd Edition). Benjamin Cummings
Pub. Co., Inc. Calif.

 Hawlans, J.A. 1985. Gene structure& Expression. Cambridge University. Press:

Cambridge

 Klug, W.S. and M.R Cummings. 1994. Concepts of genetics, 4th edition or latest edition.
MacMillan Publishing Co., New York.

 Good enough, U.1984. Genetics. (2nd edition)

Websites:

 https://www.ncbi.nlm.nih.gov/books/NBK132152/

 https://www.biologyonline.com/dictionary/genetics

 https://basicbiology.net/biology-101/introduction-to-genetics

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