Module 2

Basic Genetics

At the end of this module you are expected to:

1. Define basic terminologies used in genetics;
2. Understand the role of DNA and RNA in the central dogma of molecular biology;
3. Know the principles of karyotyping;
4. Differentiate mitosis from meiosis;
5. Appreciate the importance of genetics in our daily lives.

Deoxyribonucleic Acid (DNA)

Cells are the body’s building blocks. Many different types of cells have different
functions. They make up all of your body’s organs and tissues. Nearly every cell in a
person’s body has the same deoxyribonucleic acid, or DNA. DNA is the hereditary
material in humans and almost all other organisms.
Most DNA is located in the cell nucleus (where it is called nuclear DNA), but a
small amount of DNA can also be found in the mitochondria (where it is called
mitochondrial DNA).
DNA contains the code for
building and maintaining an
organism. The code is spelled out in
the order, or sequence, of four
chemical bases—adenine (A),
cytosine (C), guanine (G), and
thymine (T)—in the same way that
letters of the alphabet come together
to form words, sentences, and
paragraphs.
Human DNA consists of about
three billion bases, and more than 99
percent of those bases are the same
in all people. DNA bases pair with
each other—A with T, C with G—to
form units called base pairs. Each
base is attached to a sugar molecule
and a phosphate molecule. Together, base, sugar, and phosphate are called a nucleotide.
Nucleotides are arranged in two long strands that form a spiral called a double helix. The
structure of the double helix is like a ladder, with base pairs running through the middle
like rungs and sugar and phosphate molecules along the outside.

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Genes and Alleles
Genes are small sections of the long chain of DNA. They are the basic physical
and functional units of heredity. In humans, genes vary in size from a few hundred DNA
bases to more than two million bases.
The Human Genome Project has estimated that humans have between 20,000
and 25,000 genes. Every person has two copies of each gene, one inherited from each
parent. Most genes are the same in all people, but a small number of genes (less than
one percent of the total) are slightly different between people.
Alleles are forms of the same gene with small differences in their sequence of
DNA bases. These small differences contribute to each person’s unique features.
Genes act as instructions to make molecules called proteins. To function correctly,
each cell depends on thousands of proteins to do their jobs in the right places at the right
times. Sometimes changes in a gene, called mutations, prevent one or more of these
proteins from working properly. This may cause cells or organs to change or lose their
function, which can lead to a disease. Mutations, rather than genes themselves, cause
disease. For example, when people say that someone has “the cystic fibrosis gene,” they
are usually referring to a mutated version of the CFTR gene, which causes the disease.
All people, including those without cystic fibrosis, have a version of the CFTR gene.
Sections of DNA form genes, and many genes together form chromosomes. People
inherit two sets of chromosomes (one from each parent), which is why every person has
two copies of each gene. Humans have 23 pairs of chromosomes.

The Central Dogma

The first step of the central
dogma of molecular biology
includes the transfer of information
in DNA to a messenger RNA
(mRNA) molecule by way of a
process called transcription.
During transcription, the DNA of a
gene serves as a template
for complementary base-pairing,
and an enzyme called RNA
polymerase II catalyzes the
formation of a pre-mRNA molecule, which is then processed to form mature mRNA. The
resulting mRNA is a single-stranded copy of the gene, which next must be translated into
a protein molecule.

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 During translation, which is the second major step in gene expression, the mRNA
is "read" according to the genetic code, which relates the DNA sequence to the amino
acid sequence in proteins. Each group of three bases in mRNA constitutes a codon, and
each codon specifies a particular amino acid (hence, it is a triplet code). The mRNA
sequence is thus used as a template
to assemble—in order—the chain of
amino acids that form a protein.

A simple mnemonic for remembering

the essential amino acids - PVT TIM
HALL.

P.V.T.
• P = Phenylalanine
• V - Valine
• T - Threonine
T.I.M.
• T - Tryptophan
• I - Isoleucine
• M - Methionine
H.A.L.L.
• H - Histidine
• A - Arginine
• L - Leucine
• L - Lysine

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Karyotype and Karyotyping

A karyotype is simply a
picture of a person’s
chromosomes. In order to get
this picture, the chromosomes
are isolated, stained, and
examined under the
microscope. Most often, this is
done using the chromosomes in
the white blood cells.

A picture of the
chromosomes is taken through
the microscope. Then, the
picture of the chromosomes is
cut up and rearranged by the
chromosome’s size. The
chromosomes are lined up from
largest to smallest. A trained
cytogeneticist can look for
missing or extra pieces of
chromosome. There are 22
numbered pairs of chromosomes called autosomes. The 23rd pair of chromosomes are
the chromosomes. They determine an individual’s sex. Females have two X
chromosomes, and males have an X and a Y chromosome. Each chromosome has been
assigned a number based on its size. The largest chromosome is chromosome 1.
Therefore chromosome 18 (encircled in figure) is one of the smallest chromosomes in
humans.

The Cell Cycle: Mitosis vs. Meiosis

Mitosis is used to produce daughter cells that are genetically identical to the
parent cells. The cell copies - or “replicates” - its chromosomes, and then splits the copied
chromosomes equally to make sure that each daughter cell has a full set.

Meiosis is used to make special cells - sperm cells and egg cells - that have half
the normal number of chromosomes. It reduces the number from 23 pairs of
chromosomes to 23 single chromosomes. The cell copies its chromosomes, but then
separates the 23 pairs to ensure that each daughter cell has only one copy of each
chromosome. A second division that divides each daughter cell again to produce four
daughter cells.

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Mitosis vs. Meiosis

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 Chromosome number of common animal species

Guide Questions 2

1. What is DNA?
2. What is the role of DNA in the study of genetics?

Answer to Guide Questions 2

Question 1: DNA is the chemical name for the molecule that carries genetic instructions
in all living things. The DNA molecule consists of two strands that wind around one
another to form a shape known as a double helix. Each strand has a backbone made of
alternating sugar (deoxyribose) and phosphate groups. Attached to each sugar is one of
four bases--adenine (A), cytosine (C), guanine (G), and thymine (T). The two strands are
held together by bonds between the bases; adenine bonds with thymine, and cytosine
bonds with guanine. The sequence of the bases along the backbones serves as
instructions for assembling protein and RNA molecules.
Question 2: The main role of DNA in the cell is the long-term storage of information. It is
often compared to a blueprint, since it contains the instructions to construct other
components of the cell, such as proteins and RNA molecules.

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Key points

1. DNA is the hereditary material in humans and almost all other organisms.
2. Genes are small sections of the long chain of DNA. They are the basic physical
and functional units of heredity. In humans, genes vary in size from a few hundred
3. The Human Genome Project has estimated that humans have between 20,000
and 25,000 genes.
4. Alleles are forms of the same gene with small differences in their sequence of
DNA bases.

5. The central dogma of molecular biology is an explanation of the flow of genetic

information within a biological system. It Includes primarily the transfer of
information from the DNA into a messenger RNA (mRNA) in the process of
transcription and the interpretation of the codes into protein molecules during the
process of translation.

6. Mitosis is used to produce daughter cells that are genetically identical to the
parent cells. On the other hand, meiosis is used to make special cells - sperm
cells and egg cells - that have half the normal number of chromosomes.

7. A karyotype is simply a picture of a person’s chromosomes. In order to get this

picture, the chromosomes are isolated, stained, and examined under the
microscope.

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References and Supplementary Materials

Books

1. van der Waaij, K. (2014). Textbook Animal Breeding: Animal Breeding and
Genetics for BSc Students: Centre for Genetic Resources and Animal Breeding
and Genomics Group, Wageningen University and Research Centre, the
Netherlands

Online Supplementary Reading Material

1. Central Dogma – An Inheritance Mechanism; https://byjus.com/biology/central-

dogma-inheritance-mechanism/; Retrieved July 9, 2020

2. Deoxyribonucleic Acid (DNA); https://www.genome.gov/genetics-

glossary/Deoxyribonucleic-Acid; Retrieved July 9, 2020

3. DNA; https://www.sciencedaily.com/terms/dna.htm; Retrieved July 9, 2020

4. The Information in DNA Determines Cellular Function via Translation;

https://www.nature.com/scitable/topicpage/the-information-in-dna-determines-
cellular-function-6523228/; Retrieved July 9, 2020

5. What is a karyotype?; https://www.chromosome18.org/what-is-a-karyotype/;

Retrieved July 9, 2020