INTRODUCTION TO

GENETICS
S3502TM
INTRODUCTION AND
OVERVIEW
 TERMINOLOGY
• GENETICS:
the study of genes and heredity (heredity and variation)
Genetics studies both genetic similarities and genetics variation
(between parents and offspring or among individuals of a population)

• GENE:
the fundamental physical and functional unit of heredity
an ordered sequence (a linear arrangement) of nucleotides located
in a particular position on a (particular) chromosomes
It encodes a specific functional product (a protein or RNA
molecule)
 TERMINOLOGY

• HEREDITY:
the handing out of certain traits from parent to their offspring.
This process occurs through genes

• INHERITANCE:
how traits/characteristics are passed on from generation to
generation
 TERMINOLOGY
• ALLELE:
an alternative form (variation) of a gene/gene locus
occupies a specific position on a chromosome
alleles are inherited separately/independently from each other
e.g. an allele for eye colour (blue or brown eyes)

• LOCUS (LOCI plural): the position of a gene on a chromosomes ( a

specific physical location)
 TERMINOLOGY

• ALLELE FREQUENCY:
the proportion of a particular allele among the chromosomes of
an individual in a population
(how often do you find a particular allele in individuals of a
population).
or among individuals in a population
 TERMINOLOGY
• CHROMOSOME:
the self-replicating genetic structure of cells
Carries the DNA

• GENOME:
all the genetic material (all the genes) in the chromosome(s) of an
organism.
a particular characteristic of a genome is its size (large and small
genomes)
determined by the total number of base pairs (bp)
 TERMINOLOGY

• AUTOSOME:
a chromosome not involved in sex determination
humans have 46 chromosomes (23 pairs)
22 pairs of autosomes and 1 pair of sex chromosomes
(X and Y chromosomes)
 TERMINOLOGY

• SEX CHROMOSOMES:
X and Y chromosome in human beings
determines the sex of an individual
females have 2 X chromosomes (XX) in diploid cells
males have an X and a Y chromosome: (XY)
 OTHER COMMON TERMINOLOGIES IN
GENETICS

• TRAIT:
a distinguishing quality of a characteristic (a characteristic that is
caused by Genetics)
• DOMINANT:
traits that are expressed
• RECESSIVE:
traits that are covered
 OTHER COMMON TERMINOLOGIES IN
GENETICS
• PHENOTYPE:
the physical appearance
• GENOTYPE:
the genetic make-up
• P-GENERATION:
the parents
• F1-GENERATION:
first filial generation (sons and daughters)
• F2-GENERATION:
second filial generation; a cross between F1 individuals
 OTHER COMMON TERMINOLOGIES IN
GENETICS

• ALLELES:
different forms of a characteristic
• HOMOZYGOUS:
two of the same alleles
• HETEROZYGOES:
two different alleles
 GREGOR MENDEL

Austrian Monk
Often considered the Father of Genetics
Breeding pea plants (Pisum sativum L.)
were easily available
reproduce quickly
show obvious differences in the traits
Understood that something (factor) carried traits from one generation
to the next
 GREGOR MENDEL

Began his breeding experiments in 1856 (1856 to 1863)

Common knowledge at the time:
existence of hybrid plants and animals (offspring of 2 dissimilar
parents)
hybrid plants (offspring of pure/true-breeding parents are similar
in appearance
when these hybrids mate with each other, they do not breed
true (offspring show a mixture of traits – some look like parents,
others like the grandparents)
 GREGOR MENDEL
• Transmission Genetics is the general process by which traits
controlled by factors (genes) are passed on through gametes from
generation to generation.
• Fundamental principles of Transmission Genetics were laid down by
Gregor Mendel.
• The foundations of our current understanding of the gene were laid
down by Gregor Mendel during his experiments on the garden pea.
• Mendel’s work forms the foundation of Genetics.
GREGOR MENDEL
GREGOR MENDEL
 GREGOR MENDEL
• Laws of inheritance

• Law of dominance states that: “When parents with pure, contrasting traits are crossed
together, only one form of trait appears in the next generation. The hybrid progeny will
exhibit only the dominant trait in the phenotype.”

• First law of inheritance:

• Law of segregation: “During the formation of gamete, each gene separates from each
other so that each gamete carries only one allele for each gene.”
•
• Second law of inheritance:
• “The law of independent assortment states that the inheritance of one pair of genes is
independent of inheritance of another pair.”
 GREGOR MENDEL
• The gene was recognised as Mendel’s particles of inheritance
(particulate factors) that are passed unchanged from parents to
offspring.

• A gene exists in alternate forms called alleles. These alternate forms

determine the expression of some particular characteristics e.g.
flower colour in garden peas; the colour of the flowers may be purple
or white.
 GREGOR MENDEL
• Mendel’s Law of Segregation
Mendel’s law of segregation describes the separation of alleles. Thus, “alleles have no
permanent effect on one another when present in the same plant, but segregate
(separate) unchanged by passing into different gametes.”

Homozygous: When an organism has two identical alleles of gene, it is said to be

homozygous (or true-breeding) for the trait conveyed by that gene. An organism
with two identical alleles for a character is said to be homozygous for the gene controlling
that character.

Heterozygous: If the alleles are different, the organism is heterozygous (or hybrid).
An organism that has two different alleles for a gene is said to be heterozygous for the
gene controlling that character. Unlike homozygotes, heterozygotes are not true-breeding.
 GREGOR MENDEL
• Monohybrid Crosses
Monohybrid crosses involve a single pair of contrasting traits.
The original parents are the P1 generation, and their offspring are
the F1 generation.
Offspring arising from selfing (self-fertilizing) the F1 generation
are the F2 generation.
In the F1 generation of a monohybrid cross, all of the plants have just
one of the two contrasting traits.
In the F2 generation, 3/4 of the plants exhibit the same trait as the F1
generation, and 1/4 exhibit the contrasting trait that disappeared in
the F1 generation.
 GREGOR MENDEL
• Monohybrid Crosses
 GREGOR MENDEL
• Monohybrid Crosses
• Mendel’s law of segregation describes the separation of alleles. Thus, “alleles have
no permanent effect on one another when present in the same plant, but segregate
(separate) unchanged by passing into different gametes.”

• Homozygous: When an organism has two identical alleles of gene, it is said to be

homozygous (or true-breeding) for the trait conveyed by that gene. An organism with
two identical alleles for a character is said to be homozygous for the gene controlling that
character.

• Heterozygous: If the alleles are different, the organism is heterozygous (or hybrid). An
organism that has two different alleles for a gene is said to be heterozygous for the gene
controlling that character. Unlike homozygotes, heterozygotes are not true-breeding.
 GREGOR MENDEL
• Monohybrid Crosses of all seven traits
 GREGOR MENDEL
• Monohybrid Crosses
To explain these results, Mendel proposed the existence of “particulate unit
factors” for each trait.
He suggested that these factors (now called genes) and are passed
unchanged from generation to generation, determining various traits
expressed by each individual plant.
Mendel also proposed three postulates of inheritance:
• Unit factors exist in pairs.
• In the pair of unit factors for a single characteristic in an individual, one unit factor is
dominant and the other is recessive.
• The paired unit factors segregate (separate) independently during gamete formation.
 GREGOR MENDEL
• The Testcross
• How can we tell the genotype of an individual with the dominant
phenotype?
• Such an individual must have one dominant allele, but the
individual could be either homozygous dominant or
heterozygous
• The answer is to carry out a testcross: breeding the mystery
individual with a homozygous recessive individual
• If any offspring display the recessive phenotype, the mystery
parent must be heterozygous
LE 14-7

Dominant phenotype, Recessive phenotype,

unknown genotype: known genotype:
PP or Pp? pp

If PP, If Pp,
1
then 2 offspring purple
then all offspring
purple: and 1 2 offspring white:

p p p p

P P
Pp Pp Pp Pp

P
P
Pp Pp pp pp
 GREGOR MENDEL
• Dihybrid Cross
A dihybrid cross involves two pairs of contrasting traits
 GREGOR MENDEL
• Dihybrid Cross
 GREGOR MENDEL
• Dihybrid Cross
Mendelian genetics deals with complete dominance
When one allele is dominant and the other is recessive, the
phenotype of the heterozygote is determined by the dominant
allele.
The appearance of the heterozygote is indistinguishable from
that of the homozygote parent.
The F1 resembles the dominant parent.
 GREGOR MENDEL
Complete dominance generates the classic 3:1 ratio of dominant to recessive
monohybrid phenotypes in the F2.
Mendel derived the law of segregation by following a single character.
Mendel identified his second law of inheritance by following two characters
at the same time (Independent assortment of different genes)
Crossing two, true-breeding parents differing in two characters produces
dihybrids in the F1 generation, heterozygous for both characters.
A dihybrid cross, a cross between F1 dihybrids, can determine whether two
characters are transmitted to offspring as a package or independently.
GREGOR MENDEL
 EXTENSIONS TO MENDELIAN GENETICS
• Incomplete dominance
In incomplete dominance, the phenotype of F1 hybrids is
somewhere between the phenotypes of the two parental
varieties.
For example, red and white flowered parents can produce pink
flowered plants.
 EXTENSIONS TO MENDELIAN GENETICS
• Incomplete dominance
 EXTENSIONS TO MENDELIAN GENETICS
• Codominance
when alleles contribute equally to the phenotype
e.g. in human blood groups, the AA and BB are homozygous, and
the AB is a codominant heterozygote in which the A and B groups
are equally expressed
• Multiple alleles (> 2 in a population)
any individual will have at most two alleles of the same gene
the ABO blood groups are an example of multiple alleles
each individual is A, B, AB, or O phenotype
 EXTENSIONS TO MENDELIAN GENETICS
• Chromosome theory of inheritance
states that genes are located on chromosomes; or
chromosomes are the vectors of genes
genes lie in a linear array on chromosomes
genes have specific loci (positions) on chromosomes
it is the chromosomes that undergo segregation and
independent assortment.
 Thomas Hunt Morgan
first to associate a specific gene with a specific chromosome
Morgan’s experiments with fruit flies provided convincing evidence that
chromosomes are the location of Mendel’s heritable factors
Instead of having the normally brilliant red eyes of wild-type Drosophila
melanogaster, he observed a male fly with white eyes
Morgan chose to do a simple breeding analysis with Drosophila to find
out more about white eyes
 Thomas Hunt Morgan
Thus, he first performed a test cross between the white-eyed male fly and
several pure-bred, red-eyed females to see whether white eyes might also
occur in the next generation.

X +X + x XwY
Red eye ♀ white eye ♂

F1 X+Xw X +Y X+Xw X+Y (all F1 flies had red eyes)

 Thomas Hunt Morgan

• The members of the resulting F1 generation all had red eyes, but
Morgan suspected that the white-eye trait was still present yet
unexpressed in this hybrid generation, like a recessive trait would be.

• To test this idea, Morgan decided to cross two flies from the
F1 generation—specifically, a red-eyed female (X+Xw) and a red-eyed
male (X+Y)—to test for a recessive pattern of inheritance.
 Thomas Hunt Morgan

X+Xw x X+Y
F1 red eye ♀ F1 red eye ♂

F2 X+X+ X+Y XwX+ XwY

red eye ♀ red eye ♂ red eye ♀ white eye ♂
 Thomas Hunt Morgan

As shown in the cross above, the offspring of this cross exhibited a 3:1
ratio of red eyes to white eyes, which indicated that white eyes were
recessive
Moreover, all of the F2 white-eyed offspring were male.
Eye colour was linked to the X-chromosome (only males had white
eyes).
 Thomas Hunt Morgan
The white mutation was located on a particular chromosome because
of its association with sexual type (sex linkage)
Drosophila eye colour was one of the first examples of X-linkage

Thomas Hunt Morgan's ground-breaking work with fruit flies provided

substantial evidence for the chromosome theory of inheritance