Introduction to Genetics

Learning Unit 1
By Dr S Takaidza
 Overview of Genetics

• Have a clear idea of the study of genetics

• Understand the relationship between genes and traits
• Know the different types of traits
• Explain how genes are expressed
• Explain how traits are governed by genes and the environment
• Understand how proteins determine cellular structure and function
 Genetics Notes
Who is Gregor Mendel? “Father of Genetics”

Principle of Independent Assortment – Inheritance of one

trait has no effect on the inheritance of another trait
 Traits
• Genetics – study of how traits are passed from parent
to offspring
• Traits are determined by the genes on the
chromosomes. A gene is a segment of DNA that
determines a trait.
• Chromosomes come in homologous pairs, thus genes
come in pairs.
Homologous pairs – matching genes – one from female
parent and one from male parent
• Example: Humans have 46 chromosomes or 23 pairs.
One set from dad – 23 in sperm
One set from mom – 23 in egg
• One pair of Homologous Chromosomes:

Gene for eye color

(blue eyes)

Homologous pair
of chromosomes

Gene for eye color

(brown eyes)

Alleles – different genes (possibilities) for the same trait –

ex: blue eyes or brown eyes
Dominant and Recessive Genes
• Gene that prevents the other gene from “showing” –
dominant
• Gene that does NOT “show” even though it is present –
recessive
• Symbol – Dominant gene – upper case letter – T
Recessive gene – lower case letter – t

Recessive
Dominant
color
color
Example: Straight thumb is dominant to hitchhiker thumb
T = straight thumb t = hitchhikers thumb

(Always use the same letter for the same alleles—

No S = straight, h = hitchhiker’s)

Straight thumb = TT
Straight thumb = Tt
Hitchhikers thumb = tt * Must have 2 recessive alleles
for a recessive trait to “show”
• Both genes of a pair are the same –
homozygous or purebred
TT – homozygous dominant
tt – homozygous recessive

• One dominant and one recessive gene –

heterozygous or hybrid
Tt – heterozygous

BB – Black
Bb – Black w/ bb – White
white gene
Genotype and Phenotype
• Combination of genes an organism has (actual gene
makeup) – genotype
Ex: TT, Tt, tt
• Physical appearance resulting from gene make-up –
phenotype
Ex: hitchhiker’s thumb or straight thumb
Punnett Square and Probability
• Used to predict the possible gene makeup of offspring –
Punnett Square
• Example: Black fur (B) is dominant to white fur (b) in mice
1. Cross a heterozygous male with a homozygous recessive female.

Black fur (B) White fur (b)

Heterozygous Homozygous
male recessive female

White fur (b) White fur (b)

 Relationship between genes and traits
• Genetics – branch of biology that deals with heredity and variation.
• Gene and traits
 Composition of living cells
• Nucleic acids
• Proteins
• Carbohydrates
• Lipids

• Macromolecules formed – DNA and RNA made of nucleic acids + proteins + carbohydrates.
• Nucleotides (A, C, T and G) are the building blocks of DNA.
• DNA is associated with proteins that provide organization to the structure of chromosomes.
• Proteome – all the proteins that a cell makes at a given time.
• Enzymes – speed up chemical reactions.

• The importance of nucleus – bound by double membrane and shields the chromosomes from the rest of
the cell and further protects it from mechanical damage. Also provides a single compartment for the
genetic activities such as gene transcription.
 DNA stores the information for Protein
synthesis
• DNA – the genetic material of living organisms.
• Stores the information needed for the synthesis of all cellular
proteins.
• Nucleotides – four nitrogen-containing bases A, G, T, and C.
• DNA sequences – contain the information to direct the order of amino
acids within polypeptides.
• Genetic code – three-base sequences which specify one amino acid
among the 20 possible choices.
Genetic Code
 Chromosomes
• Chromosomes – DNA is found
within these structures.
• 46 chromosomes contained
within a human cell.
• Long, linear, and double-stranded.
 Gene Expression
• Gene expression – the process of using a gene sequence to effect the
characteristics of cells and organisms.
• HOW DOES REGULATION BENEFIT ORGANISMS?
• Each somatic cell contains the full genome of an organism
• All genes do not need to be expressed simultaneously in each cell (in
fact, that would be detrimental to the organism)
• Regulation maintains efficiency
• Energy – expressing all genes would require a massive amount of energy
• Space – cells are kept to a manageable size
• Time – genes can be expressed as needed and more rapidly.
Transcription – DNA
sequence is copied into a
nucleotide sequence (RNA)
mRNA – contains the
information for the synthesis of
a polypeptide (amino acid
sequence joined by peptide
bonds).

Translation – the mRNA code

is translated into the amino
acid sequence using the
genetic code.
 PROKARYOTIC GENE
REGULATION
Prokaryotic DNA is organized into a
circular chromosome located in nucleoid region of
cytoplasm

Proteins with similar function or in the same

biochemical pathway are organized in blocks
called operons

Operons are regulated by three

molecule types:
1. Repressors – suppress transcription
2. Activators – increase transcription
3. Inducers – may suppress or activate
transcription depending upon the needs
of the cell
Gene Expression: Eukaryotes
• Cell Differentiation – cell
specialization
• All cells contain the same
genes
• The genes that are expressed
determines the type of cell
• Ex: Skin cell vs. a nerve cell
DIFFERENT CELL TYPES EXHIBIT DIFFERENTIAL GENE
EXPRESSION

The genetic content of each somatic cell in an organism is the same, but not all genes are
expressed in every cell. The control of which genes are expressed dictates whether a cell is (a)
an eye cell or (b) a liver cell. It is the differential gene expression patterns that arise in different
cells that give rise to (c) a complete organism.
 EUKARYOTIC EPIGENETIC GENE
REGULATION

Eukaryotic gene expression is more complex than in

prokaryotes:
✔ Transcription and translation are physically separated.
✔ Regulation can occur at many levels.
✔ 1st level begins with control of access to the DNA –
epigenetic regulation – and occurs before transcription
begins.
✔ Transcription factors are proteins that control the
transcription of genetic information from DNA to RNA
 Molecular expression of genes
• Morphological traits - appearance
• Physiological traits - function
• Behavioral traits –responds to the environment
• Relationship between genes and traits:
• Molecular level
• Cellular level
• Organism level
• Population level
• Alleles – Different forms
 Inherited differences in traits
• Genetic variation – the difference in inherited traits among individuals
within a population.

• Geographic range

• Morphs – contrasting forms within a single species.

• Genetic variation – change in the nucleotide sequence of DNA.

Genetic variation

Morphs
 Genetic variation is attributed to the
following types of modifications:
• Gene mutation – small or large difference within gene sequences.
• Major alterations in structure of chromosome.
• Variation in the total number of chromosomes.

• Variations within the sequence of genes are a common source of

genetic variation among members of the same species.
• Many human genetic disorders are the results of chromosomal
alterations eg. Down syndrome due to the presence of an extra
chromosome.
 Traits are governed by genes and the
environment
• Environment - the surroundings in which and organisms exists.
• A variety of factors in an organisms environment affects its
morphological and physiological features.
• Example – person diet influences many traits such as height and
weight.
• Example – the amount of sunlight a plant receives affects its growth
rate and the colour of its flowers.
 Genes passed from parent to offspring
• Happens during reproduction.
• Gregor Mendel – understanding of inheritance (foundation).
• His work showed that factors that govern traits which we call genes
are passed from parent to offspring as discrete units.
• Inheritance patterns can be explained by the existence of
chromosomes and their behavior during cell division.
• Sexually reproducing species are called diploid – contain two copies of
each chromosome, one from each parent.
• The two copies are called homologs.
• Genes are located within chromosomes.
• Diploid organisms have two copies of most genes.
• Humans have 46 chromosomes which are found in homologous pairs,
• Exception is only the sex chromosomes.
• Somatic cells – cells not involved in sexual reproduction.
• Gametes – sperm and egg cells – contain half that number and are termed
haploid.
• The union of gametes during fertilization restores the diploid number of
chromosomes.
• Advantage of sexual reproduction (enhances genetic variation)
 Genetic composition off a species
• Survival advantage – enhance genetic variation by reproduction
• Biological evolution – genetic makeup of a population can change
from one generation to the next.
• Charles Darwin – suggested that members of a species are in
competition with one another for essential resources. Eg . Giraffe
has grown a longer neck to be able to feed on higher trees.
• Natural selection – When a mutation creates a new allele that is
beneficial, the allele may become prevalent in future generations and
this can be passed to their offspring.
Natural Selection