BIO211

INTRODUCTION TO GENETICS

Heredity, Historical Perspective

For much of human history people were unaware of the scientific details of how babies were
conceived and how heredity worked. Clearly they were conceived, and clearly there was
some hereditary connection between parents and children, but the mechanisms were not
readily apparent. The Greek philosophers had a variety of ideas: Theophrastus proposed that
male flowers caused female flowers to ripen; Hippocrates speculated that "seeds" were
produced by various body parts and transmitted to offspring at the time of conception, and
Aristotle thought that male and female semen mixed at conception. Aeschylus, in 458 BC,
proposed the male as the parent, with the female as a "nurse for the young life sown within
her".
During the 1700s, Dutch microscopist Anton van Leeuwenhoek (1632-1723) discovered
"animalcules" in the sperm of humans and other animals. Some scientists speculated they saw
a "little man" (homunculus) inside each sperm. These scientists formed a school of thought
known as the "spermists". They contended the only contributions of the female to the next
generation were the womb in which the homunculus grew, and prenatal influences of the
womb. An opposing school of thought, the ovists, believed that the future human was in the
egg, and that sperm merely stimulated the growth of the egg. Ovists thought women carried
eggs containing boy and girl children, and that the gender of the offspring was determined
well before conception.
Pangenesis was an idea that males and females formed "pangenes" in every organ. These
pangenes subsequently moved through their blood to the genitals and then to the children.
The concept originated with the ancient Greeks and influenced biology until little over 100
years ago. The terms "blood relative", "full-blooded", and "royal blood" are relicts of
pangenesis. Francis Galton, Charles Darwin's cousin, experimentally tested and disproved
pangenesis during the 1870s.
Blending theories of inheritance supplanted the spermists and ovists during the 19th century.
The mixture of sperm and egg resulted in progeny that were a "blend" of two parents'
characteristics. Sex cells are known collectively as gametes (gamos, Greek, meaning
marriage). According to the blenders, when a black furred animal mates with white furred
animal, you would expect all resulting progeny would be gray (a color intermediate between
black and white). This is often not the case. Blending theories ignore characteristics skipping
a generation. Charles Darwin had to deal with the implications of blending in his theory of
evolution. He was forced to recognize blending as not important (or at least not the major
principle), and suggest that science of the mid-1800s had not yet got the correct answer. That
answer came from a contemporary, Gregor Mendel, although Darwin apparently never knew
of Mendel's work.

HERIDITY AND ENVIROMENT

Genetics simply means science that deals with questions and answers on inheritance. It is a
science that deals with heredity and variations. The ways and manners by which these
characters are inherited from parents is known as heredity. Heredity simply means the
transmission of biological characters from parent to their offspring. Living orgasm have
hereditary characters as every individual is an offspring of other of other individual of similar
kind.
In spite of these we have observe that variation exist between organisms of the same species,
some of these variations like height, skin colour, weight, size are due to some inborn
characters and are therefore hereditary. These continuous variations through genetically
controlled are subject to influence of the environment factors like climate, high, humidity and
food supply for example, whatever a man’s genetic inheritance of height is, he may not grow
to this full potential if he is under nourished, an adult organism is therefore a product of both
natural inheritance and the condition in which he lives. Characters must have an environment
in which to express itself. Modification brought about by the environment alone are said to be
acquired characters and not inherited.
GENETIC TERMINOLOGIES
In order to have a full appreciation of the subject matter there is need to define some genetic
terms.
i. GENES: - The basic unit of inheritance that is directly responsible for one’s
character or trait e.g flower position. Chromosome a tread like structures that
carries the genes.
ii. Alleles: - this refer to pair of contrasting genes on the chromosome for expressing
a pair of contrasting character e.g Tt for height (T = tall t = short).
iii. Genotype: - this is the genetic make-up or genetics composition of an organism.
This is the sum total of all genes that the individual inherits from his parents
example SS, TT, aa, Tt, Aa, etc.
iv. Phenotype: - this refers to the physical appearance of an organism and the
physiological responses of the organism. It is affected by the genotype and
environment.
v. Dominant: - a trait is said to be dominant when it is express in the presence of
another character that is suppressed.
vi. Recessive: - a trait is said to be recessive when it is not expressed in the presence
of another character. In other words, such a character is suppressed.
vii. Homozygous: - A trait is said to be homozygous when the alleles are in the same
form of a gene e.g. AA, aa, TT, tt etc.
viii. Heterozygous: - A trait is said to be heterozygous when the alleles are in different
form of a gene e.g. Aa, Tt, Bb, etc.
ix. Monohybrid crossing: - it is a cross involving only one character or trait.
x. Dihybrid cross: - it is a cross involving two or more character.

The Monk and his peas

Gregor Mendel (1822 - 1884) was a monk in an Augustinian monastery in Brunn, Austria. He
is often regarded as the father of genetics because his work formed the foundation for
scientific study of heredity and variation. Gregor Mendel, developed the fundamental
principles that would become the modern science of genetics. Mendel demonstrated that
heritable properties are parcelled out in discrete units, independently inherited. These
eventually were termed genes.

Mendel's experimental organism was a common garden pea (Pisum sativum), which has a
flower that lends itself to self-pollination. The male parts of the flower are termed the anthers.
They produce pollen, which contains the male gametes (sperm). The female parts of the
flower are the stigma, style, and ovary. The egg (female gamete) is produced in the ovary.
The process of pollination (the transfer of pollen from anther to stigma) occurs prior to the
opening of the pea flower. The pollen grain grows a pollen tube which allows the sperm to
travel through the stigma and style, eventually reaching the ovary. The ripened ovary wall
becomes the fruit (in this case the pea pod). Most flowers allow cross-pollination, which can
be difficult to deal with in genetic studies if the male parent plant is not known. Since pea
plants are self-pollinators, the genetics of the parent can be more easily understood. Peas are
also self-compatible, allowing self-fertilized embryos to develop as readily as out-fertilized
embryos. Mendel tested all 34 varieties of peas available to him through seed dealers. The
garden peas were planted and studied for eight years. Each character studied had two distinct
forms, such as tall or short plant height, or smooth or wrinkled seeds. Mendel's experiments
used some 28,000 pea plants.

Mendel carried out several experiments on how hereditary. Characters were transmitted from
generation to generation. He worked with the garden pea (Pisum sativum). His major aim was
to find out the pattern of inheritance of different character of the pea plant.
Reasons for Mendel’s choice of pea plant
Gregor Mendel decided to use the pea plant for his experiment because of the following
reasons

i. They are self-pollinating and he could pollinate then himself.

ii. They have very short life span because they are annual plants
iii. They have several unique character which exist in contrasting pairs such as
a. Round and wrinkled seeds
b. Tall & short plants
c. Yellow & green seeds
d. Axial & terminal flowers
e. Yellow & green pod
f. White & red flowers
g. Smooth & constructed pod

Mendel reasoned an organism for genetic experiments should have:

1 a number of different traits that can be studied

2 plant should be self-fertilizing and have a flower structure that limits accidental contact

3 offspring of self-fertilized plants should be fully fertile.

Mendel's work showed:
1 Each parent contributes one factor of each trait shown in offspring.

2 The two members of each pair of factors segregate from each other during gamete
formation.

3 The blending theory of inheritance was discounted.

4 Males and females contribute equally to the traits in their offspring.

5 Acquired traits are not inherited.

Principle of Segregation

Mendel studied the inheritance of seed shape first. A cross involving only one trait is referred
to as a monohybrid cross. Mendel crossed pure-breeding (also referred to as true-breeding)
smooth-seeded plants with a variety that had always produced wrinkled seeds (60
fertilizations on 15 plants). All resulting seeds were smooth. The following year, Mendel
planted these seeds and allowed them to self-fertilize. He recovered 7324 seeds: 5474 smooth
and 1850 wrinkled. To help with record keeping, generations were labelled and numbered.
The parental generation is denoted as the P1 generation. The offspring of the P1 generation
are the F1 generation (first filial). The self-fertilizing F1 generation produced the F2
generation (second filial).
P1: smooth X wrinkled
F1 : all smooth
F2 : 5474 smooth and 1850 wrinkled
Meiosis, a process unknown in Mendel's day, explains how the traits are inherited.
Mendel studied seven traits which appeared in two discrete forms, rather than continuous
characters which are often difficult to distinguish. When "true-breeding" tall plants were
crossed with "true-breeding" short plants, all of the offspring were tall plants. The parents in
the cross were the P1 generation, and the offspring represented the F1 generation. The trait
referred to as tall was considered dominant, while short was recessive. Dominant traits were
defined by Mendel as those which appeared in the F1 generation in crosses between true-
breeding strains. Recessives were those which "skipped" a generation, being expressed only
when the dominant trait is absent. Mendel's plants exhibited complete dominance, in which
the phenotypic expression of alleles was either dominant or recessive, not "in between".
When members of the F1 generation were crossed, Mendel recovered mostly tall offspring,
with some short ones also occurring. Upon statistically analyzing the F2 generation, Mendel
determined the ratio of tall to short plants was approximately 3:1. Short plants have skipped
the F1 generation, and show up in the F2 and succeeding generations. Mendel concluded that
the traits under study were governed by discrete (separable) factors. The factors were
inherited in pairs, with each generation having a pair of trait factors. We now refer to these
trait factors as alleles. Having traits inherited in pairs allows for the observed phenomena of
traits "skipping" generations.

Summary of Mendel's Results:

1 The F1 offspring showed only one of the two parental traits, and always the same trait.
2 Results were always the same regardless of which parent donated the pollen (was male).
3 The trait not shown in the F1 reappeared in the F2 in about 25% of the offspring.
4 Traits remained unchanged when passed to offspring: they did not blend in any offspring
but behaved as separate units.
5 Reciprocal crosses showed each parent made an equal contribution to the offspring.

Mendel's Conclusions:
1 Evidence indicated factors could be hidden or unexpressed, these are the recessive traits.
2 The term phenotype refers to the outward appearance of a trait, while the term genotype is
used for the genetic makeup of an organism.
3 Male and female contributed equally to the offsprings' genetic makeup: therefore, the
number of traits was probably two (the simplest solution).
4 Upper case letters are traditionally used to denote dominant traits, lower case letters for
recessives.

Mendel reasoned that factors must segregate from each other during gamete formation
(remember, meiosis was not yet known!) to retain the number of traits at 2. The Principle of
Segregation proposes the separation of paired factors during gamete formation, with each
gamete receiving one or the other factor, usually not both. Organisms carry two alleles for
every trait. These traits separate during the formation of gametes.
Mendel’s first law or law of segregation states that the characteristics of an organism are
controlled by genes which occur in pairs of such a pair of genes only one can be carried in a
single gamete.
.
Dihybrid Crosses

When Mendel considered two traits per cross (dihybrid, as opposed to single-trait-crosses,
monohybrid), The resulting (F2) generation did not have 3:1 dominant:recessive phenotype
ratios. The two traits, if considered to inherit independently, fit into the principle of
segregation. Instead of 4 possible genotypes from a monohybrid cross, dihybrid crosses have
as many as 16 possible genotypes.
Mendel realized the need to conduct his experiments on more complex situations. He
performed experiments tracking two seed traits: shape and color. A cross concerning two
traits is known as a dihybrid cross.
Crosses With Two Traits
Smooth seeds (S) are dominant over wrinkled (s) seeds.
Yellow seed color (Y) is dominant over green (g).
Methods, Results, and Conclusions

Mendel started with true-breeding plants that had smooth, yellow seeds and crossed them
with true-breeding plants having green, wrinkled seeds. All seeds in the F1 had smooth
yellow seeds. The F2 plants self-fertilized, and produced four phenotypes:
315 smooth yellow
108 smooth green
101 wrinkled yellow
32 wrinkled green

Mendel analyzed each trait for separate inheritance as if the other trait were not present. The
3:1 ratio was seen separately and was in accordance with the Principle of Segregation. The
segregation of S and s alleles must have happened independently of the segregation of Y and
y alleles. The chance of any gamete having a Y is 1/2; the chance of any one gamete having a
S is 1/2.The chance of a gamete having both Y and S is the product of their individual
chances (or 1/2 X 1/2 = 1/4). The chance of two gametes forming any given genotype is 1/4
X 1/4 (remember, the product of their individual chances). Thus, the Punnett Square has 16
boxes. Since there are more possible combinations to produce a smooth yellow phenotype
(SSYY, SsYy, SsYY, and SSYy), that phenotype is more common in the F2.
From the results of the second experiment, Mendel formulated the Principle of Independent
Assortment -- that when gametes are formed, alleles assort independently. If traits assort
independent of each other during gamete formation, the results of the dihybrid cross can
make sense. Since Mendel's time, scientists have discovered chromosomes and DNA. We
now interpret the Principle of Independent Assortment as alleles of genes on different
chromosomes are inherited independently during the formation of gametes. This was not
known to Mendel. Mendel’s second law of independent assortment of genes states that each
character behaves as a separate unit and is inherited independently of any other character.