During this course of study, we will
deal with an overview of the
principles of two aspects of
genetics:
Transmission Genetics
Cytogenetics.
Transmission genetics
How traits/genes are passed
from one generation to the
next generation
Transmission genetics
Inherited traits are determined by the
elements of heredity that are transmitted
from parents to offspring in reproduction;
these elements of heredity are called
genes.
In the early 19th century, questions concerning
evolutionary change focused on two main
issues:
1. How characters are passed on faithfully from
one generation to the next.
2. How variations in such characters occur and
are passed on.
Blending theory
"The factors inherited by an offspring are
a blend of those of its parents - that is, the
parental factors combine with and modify
each other, producing a factor that is
intermediate between those of its
parents."
Simplifying Inheritance
Gardening
with
Gregor
Mendel
• The modern approach to genetics can be traced to
the mid-nineteenth century with Gregor Mendel's
careful analyses of inheritance in peas.
• Mendel's experiments were simple and direct and
issued the most significant principles that
determine how traits are passed from one
generation to the next which is called transmission
genetics.
Visualize Peas: Discovering
the Laws of Inheritance
• Later in the 19th century, the Austrian monk
Gregor Mendel published his observations
about the inheritance in pea plants in 1866.
• Mendel thought in quantitative terms about
traits that could be classified into two
contrasting categories, such as round seeds
versus wrinkled seeds.
• Mendel noted that in the F1 generation, "one
of the parental traits appears for all of the
progeny “.
• In the F2 generation, "the two parental traits
appear, separated and unchanged".
Based on this finding, Mendel concluded
that the hereditary determinants for the
traits in the parental lines were
"transmitted as two different elements
that retain their purity in the hybrids".
1.1 PRINCIPLE OF SEGREGATION
Mendel’s experimental organism, the garden pea,
was well suited for genetic investigation for several
reasons:
a. Peas have a number of contrasting characteristics
in different individuals (for example, round seeds
versus wrinkled seeds);
b. Garden pea flowers are large (making them
easy to manipulate);
c. Pea plants produce large progeny numbers,
and many different varieties of peas were
available commercially in Mendel’s time.
• In order to study inheritance,
Mendel crossed or hybridized,
different true breeding lines. He
did this by transferring pollen
from the anthers of one plant to
the stigma of another plant.
• When Mendel crossed lines that differed in
one characteristic, such as round seeds vs.
wrinkled seeds, he found that “the progeny
resembled one of the parents”.
• The parental type found in this progeny is
called dominant, while the alternative
characteristic that is not observed is called
recessive.
Monohybrid cross is responsible for the inheritance of
one gene. For example, one had round seeds
"dominant" and the other had wrinkled seeds
"recessive", all the progeny originating from such
cross had the dominant round seed phenotype. Since
the progeny are hybrid they are the product of two
different true-breeding lines
The elegance of Mendel’s analysis is that
• To assign phenotypic differences
• To predict the outcomes of crosses.
• To discover the thread-like objects inside the nucleus
that become visible in the light microscope when
stained with certain dyes; these threads were called
chromosomes.
By then, a new era of genetics had emerged (cytological
bases of inheritance or cytogenetics).
• The law of Segregation: states that during
gamete formation, the two alleles at a gene
locus segregate from each other.
In other words, the hereditary determinants
do not “blend" or "contaminate'' each other.
Mendel arrived at two generalizations:
1. The Principle of segregation.
2. The principle of independent assortment.
THE PRINCIPLES OF MENDELIAN GENETICS
1. Traits are controlled by alleles.
2. An allele’s effect is dominant or recessive.
3. The different alleles for a trait move into
separate reproductive cells.
Mendel predictions
1. Gametes would contain only one allele of
each gene instead of two.
2. If chromosomes carry the genes, their
number should also be reduced by half in
the gametes.
3. Chromosomes, therefore, appeared to
be discrete physical entities that carried the
genes, which is generally accepted as the
chromosome theory of inheritance.
IMPORTANT GENETIC TERMS
Heredity: The passing of characteristics from
parent to offspring.
Genetics: The study of how traits are
inherited through the interactions of genes.
Cytogenetics: is the study of chromosome
number, structure, function, and behavior in
relation to gene inheritance, organization, and
expression.
Gene: The material that controls which traits are
expressed in an organism; genes come in pairs
and offspring inherit one copy of each gene from
each parent.
Allele: The alternative forms of a gene.
Genotype: An organism's genetic makeup.
Phenotype: Outward physical appearance
and behavior of an organism.
Testcross: The crossing of an
individual with a phenotypically
recessive individual, in order to
determine the zygosity of the former
by analyzing proportions of offspring
phenotypes.
Backcrossing: The crossing of a hybrid with
one of its parents or an individual genetically
similar to its parent, in order to have offspring
with a genetic identity that is closer to that of
the parent.
Reciprocal cross: A pair of crosses between a
male of one strain and a female of another, and
vice versa.
Homozygous:
• Both alleles [forms of the gene] are the same.
• When offspring inherit two dominant genes, (one
dominant gene from each parent) they are said to be
homozygous dominant
• When offspring inherit two recessive genes, (one
recessive gene from each parent) they are said to be
homozygous recessive
Heterozygous:
• When alleles occur in different forms
• When offspring inherit one dominant gene
and one recessive gene, they are said to be
heterozygous.
• Since the dominant gene will be expressed,
they are said to be heterozygous dominant.
Dominant:
• A trait that covers over, or dominates, another
form of that trait
• Trait that always shows up, even when only
one of the two alleles is in the dominant form
• Shown by a capital letter
Recessive:
• A trait that is covered over, or dominated, by another
form of that trait and seems to disappear
• Hidden when the other copy of the gene contains the
dominant allele.
• A recessive allele shows up only when there is no
dominant allele present
• Shown with a lowercase letter.
Pedigree: A pedigree is a schematic diagram of
family history, often with phenotypic and
genotypic data.
Lecture 2
Mendel's second law
• The law of independent assortment:
states that alleles for different traits
are distributed to offspring
independently of one another.
PUNNETT-Square: The scheme shows
the genotypes of the P-, F1-, and F2-
generation of a dihybrid hereditary path.
