MODULE 2

Basic Genetics

Prepared by:

Jill L. Valenzuela
Senior Clinician
OBJECTIVES:
Define basic genetic terminologies.
Understand DNA and RNA roles in the central
dogma.
Know the principles of karyotyping.
Differentiate mitosis from meiosis.
Appreciate the importance of genetics in daily
life.
DNA
Definition: DNA (Deoxyribonucleic Acid) is the
hereditary material in humans and almost all
organisms.
Structure: Double helix composed of nucleotides
(A, T, C, G) paired as A-T and C-G.
Location: Mostly in the cell nucleus (nuclear DNA),
some in mitochondria (mitochondrial DNA).
Genes and Alleles
Genes: Functional units of heredity, sections of
DNA that code for proteins.
Alleles: Different forms of the same gene,
contributing to individual uniqueness.
Human Genome: ~20,000-25,000 genes, most
of which are similar across humans.
Central Dogma
Transcription: DNA is transcribed into messenger RNA
(mRNA) in the nucleus.
Translation: mRNA is translated into proteins in the
cytoplasm, using the genetic code (codons).
Mnemonic for Essential Amino Acids: PVT TIM HALL
(Phenylalanine, Valine, Threonine, Tryptophan,
Isoleucine, Methionine, Histidine, Arginine, Leucine,
Lysine).
Karyotyping
Definition: A karyotype is a visual representation
of chromosomes arranged by size.
Process: Chromosomes are isolated, stained, and
examined under a microscope.
Importance: Helps detect chromosomal
abnormalities (e.g., missing or extra
chromosomes).
Mitosis vs. Meiosis
Mitosis: Produces two genetically identical
daughter cells, maintaining the chromosome
number.
Meiosis: Produces four genetically diverse gametes
(sperm/egg) with half the chromosome number.
Key Difference: Mitosis is for growth and repair,
meiosis is for reproduction.
Importance of Genetics
Applications: Understanding inheritance,
diagnosing genetic disorders, personalized
medicine, agricultural improvements.
Relevance: Genetics influences health, traits,
and disease susceptibility, making it crucial in
everyday life.
Conclusion & Key Points
DNA is the hereditary material.
Genes are DNA segments that code for proteins.
The central dogma explains how genetic information
flows from DNA to RNA to protein.
Mitosis and meiosis are essential for growth, repair,
and reproduction.
Karyotyping is vital for identifying chromosomal
abnormalities.
References & Supplementary Materials
Book:
1. van der Waaij, K. (2014). Textbook Animal Breeding: Animal
Breeding and Genetics for BSc Students.
Online Resources:
1. Central Dogma – An Inheritance Mechanism; byjus.com
2. Deoxyribonucleic Acid (DNA); genome.gov
3. DNA; sciencedaily.com
4. Information in DNA Determines Cellular Function via
Translation; nature.com
5. What is a karyotype?; chromosome18.org
end
 MODULE 3
Mendelian Genetics

Prepared by:

Jill L. Valenzuela
Senior Clinician
OBJECTIVES:
Define basic terminologies used in Mendelian
genetics.
Understand the principles of the Law of
Segregation and the Law of Independent
Assortment.
Learn to use the Punnett square.
Appreciate the importance of Mendelian genetics
in daily life.
Introduction
Gregor Mendel: The father of genetics.
Historical Context: Mendel’s experiments challenged the then-
popular belief of "blending inheritance."
Model Organism: Mendel used pea plants for his experiments.
Key Approach:
a. Outcrossing and self-fertilization of pea plants.
b. Selection of traits with two distinct outcomes (e.g., yellow
vs. green seeds).
c. Establishment of true-breeding lines for genetic crosses.
Terminologies
P Generation: Parental generation.
F1 Generation: First generation offspring.
F2 Generation: Second generation offspring.
Phenotype: Observable characteristics.
Genotype: Genetic makeup.
Gene: Unit of heredity controlling traits.
Terminologies, cont.
Locus: Location of a gene on a chromosome.
Alleles: Different versions of a gene.
Dominant Allele: Determines phenotype in the
presence of another allele.
Recessive Allele: Phenotypic expression hidden when
a dominant allele is present.
Hybrid: Offspring from a cross between pure lines
with different phenotypes.
Mendel’s Law of Segregation
Observations:
a. F1 Generation: Uniform phenotype matching one of the
parents.
b. F2 Generation: A 3:1 phenotypic ratio (dominant).
Law of Segregation: During gamete formation, alleles
segregate, so each gamete carries only one allele for each
gene.
Modern Understanding: Explained by the separation of
homologous chromosomes during meiosis.
Genotype vs. Phenotype
Phenotype: Observable traits determined by
genotype.
Genotype: Specific alleles present in an organism.
Homozygous: Same alleles at a locus.
Heterozygous: Different alleles at a locus;
dominant allele is expressed.
Notation: Dominant alleles are uppercase;
recessive alleles are lowercase.
Rules of Probability
Probability: Governs genetic inheritance and
allele distribution.
Product Rule: Multiply probabilities of
independent events.
Sum Rule: Add probabilities of mutually
exclusive events.
Punnett Square
Definition: Diagrammatic tool used to
predict outcomes of genetic crosses.
Application: Helps visualize probability
distributions of genotypes and
phenotypes
Test Crosses and Monohybrid Crosses
Test Cross: Crossing an individual with a
dominant phenotype with a recessive one
to determine genotype.
Monohybrid Cross: Cross between two
heterozygous individuals, yielding a 3:1
phenotypic ratio and a 1:2:1 genotypic ratio.
Test Cross
Monohybrid Cross
Law of Independent Assortment
Dihybrid Cross: Cross between individuals
heterozygous for two genes.
Law of Independent Assortment: The
segregation of one gene's alleles is independent
of the segregation of another gene’s alleles.
Recombination: Leads to new genotype
combinations not present in parents.
Genetic Linkage
Linked Genes: Genes located close together on
the same chromosome tend to be inherited
together.
Genetic Mapping:
a. Map Unit: 1% recombination frequency.
b. Linkage Group: All genes on a chromosome.
c. Mapping: Determines gene positions on
chromosomes.
Beyond Mendelian Genetics
Incomplete Dominance: Heterozygote shows a
phenotype intermediate between two
homozygotes (e.g., Andalusian chicken color).
Codominance: Both alleles distinctly expressed
(e.g., human ABO blood type).
Multiple Alleles: More than two alleles for a gene
(e.g., rabbit coat color, human blood types).
Pleiotropy
Definition: A single gene affects multiple traits.
Examples:
Sickle Cell Disease: Affects red blood cells
and causes widespread organ damage.
Frizzled Feather Trait in Chickens: Leads to
curled feathers, faster metabolism, and
other traits.
Conclusion & Key Points
Mendelian genetics provides foundational rules
of inheritance.
Punnett squares are useful for predicting genetic
cross outcomes.
The principles of Mendel’s laws apply to many
organisms but have exceptions.
Genetics plays a crucial role in understanding
biological traits and heredity.
References & Further Reading
Book:
Griffiths, A. J. F., et al. (2015). An Introduction
to Genetic Analysis.
Online Resources:
Mendel’s Pea Plant Experiments;
learn.genetics.utah.edu
Punnett Square Interactive Tool;
yourgenome.org
end
 Introduction to Mutations
General Categories of Mutations

Prepared by:

Jill L. Valenzuela
Senior Clinician
OVERVIEW:
Introduction to the importance of
understanding mutations in genetics
and their impact on organisms.
Categories of Mutations
Germline Mutations:
Occur in gametes (sperm and egg cells).
Significance: Transmissible to offspring, affecting every cell in the
progeny.
Example: Genetic disorders like cystic fibrosis can be inherited due
to germline mutations.
Somatic Mutations:
Occur in non-reproductive cells (body cells).
Significance: Typically confined to a single cell and its descendants,
not passed to offspring.
Example: Mutations in skin cells leading to localized effects like
moles.
Types of Chromosomal Alterations
Substitution:
Definition: One base is exchanged for another.
Impact: Can result in a different amino acid being encoded (e.g.,
sickle cell anemia).
Insertion:
Definition: An extra base pair or codon is added into the DNA
sequence.
Impact: Can disrupt the normal sequence and protein function.
Deletion:
Definition: Loss of a section of DNA, typically a codon or multiple
codons.
Impact: May cause a frameshift or loss of function in the protein.
Types of Chromosomal Alterations, cont.
Duplication:
Definition: Repetition of a DNA segment, which can be as small as a base
pair or as large as an entire chromosomal region.
Impact: Can lead to gene overexpression or redundancy.
Frameshift:
Definition: Insertions or deletions that alter the reading frame of the
gene.
Impact: Results in a completely altered and often nonfunctional protein.
Point Mutations:
Silent: Mutated codon codes for the same amino acid.
Missense: Mutated codon codes for a different amino acid.
Nonsense: A premature stop codon is inserted, truncating the protein.
Other Chromosomal Alterations
Repeat Expansion:
Definition: Increase in the number of repeated
nucleotide sequences (e.g., trinucleotide repeats).
Impact: Can lead to disorders like Huntington's disease.
Inversion:
Definition: A DNA segment breaks away and reattaches
in the reverse order.
Impact: May disrupt gene function if the break occurs
within a gene.
Other Chromosomal Alterations, cont.
Transversion:
Definition: A purine is replaced with a pyrimidine or
vice versa.
Impact: Alters the DNA sequence, potentially affecting
protein structure.
Translocation:
Definition: A chromosome or a section of it breaks off
and attaches to a different chromosome.
Impact: Can cause genetic disorders or cancer if it
disrupts important genes.
Conclusion
Summary: Understanding different types of
mutations is crucial in genetics for diagnosing
genetic disorders, understanding evolutionary
processes, and developing medical treatments.
Importance: Highlight how these mutations
contribute to genetic diversity but can also
lead to disease.
References & Further Reading
Book:
Strachan, T., & Read, A. P. (2018). Human
Molecular Genetics.
Online Resources:
Genetic Home Reference: ghr.nlm.nih.gov
National Human Genome Research Institute:
genome.gov
end