Enzo Gaite

2/21/2018
ENGL 363-02
Mendelian Genetics

Introduction of a gene are located on a specific nucleotide

sequence on a chromosome called a locus. An

Mendelian genetics is a model of
organism’s specific set of alleles is referred to as
inheritance that uses the law of segregation,
its genotype. If the offspring inherits the same
law of independent assortment, and law of
version of an allele then it is a homozygote. If
dominance to determine how traits are
different versions of the allele are inherited
inherited. Gregor Mendel was an Austrian friar
then it is a heterozygote. The homozygous or
who studied heredity in pea plants during the
heterozygous genotypes will then manifest into
nineteenth century and because of this he is
a physical characteristic or observable behavior
often referred to as the father of modern
called a phenotype (Pierce, 2016). Mendel
genetics. His work involved breeding many
studied genetics by observing the parent and
generations of pea plants to gain a better
offspring’s phenotypes. His work with pea
understanding of inheritance. The results of his
plants can now be proven and emulated using a
work led him to conclude that each parent
Punnett square. A Punnett square is a model
contributed a specific unit to the offspring and
that uses the parents’ genotype to predict the
that unit would be expressed or be absent in
genotypes and phenotypes of the offspring. In
the offspring. It has been discovered that the
a Punnett square, the parents’ alleles are
units that Mendel referred to are genes which
represented as arbitrary upper or lowercase
are the genetic material the offspring inherits
letters. The alleles are crossed to give a
from each parent. Genes exist as different
genotypic and phenotypic ratio for the
versions called alleles. Genes are composed of
offspring. In figure 1, a monohybrid, or single
macromolecules called nucleotides. The alleles
trait, Punnett square is shown where a
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heterozygous individual (Yy) is crossed with a plants as a model organism for studying

homozygous recessive individual (yy). inheritance (Mawer, 2006). In 1854, Mendel

grew and bred a variety of plants before he

began working with garden pea plants. He

planned to hybridize plants of the same species

that displayed contrasting characteristics. He

concluded on seven specific characteristics:

plant height, flower arrangement, pod color,

pod shape, flower color, pea color, and pea

shape (Mawer, 2006). He chose to hybridize

these different traits using the garden pea,

Punnett Square, Pbrosk13, October 18, 2008, GNU Free

Documentation License. Pisum Sativum, which made for an ideal pure

breeding plant since they are self-fertilizing and

Figure 1. A Punnett square where a
produced many offspring in a single season
heterozygote (Yy) and recessive homozygote
(Mawer, 2006). The control group of pure
(yy) are crossed.
breeding plants were labeled and kept in a
Gregor Mendel
greenhouse while the plants intended for cross

Gregor Mendel was born to Rosine pollination were grown on the garden of the

Schwirtlich and Anton Mendel. His mother was convent. In 1856, Mendel had grown a stock of

the daughter of a gardener and his father was a each pure breeding plant representing

farmer (Mawer, 2006 pg. 22). Mendel’s early characteristics he had chosen for comparison

life had him involved with gardening practices and began cross pollinating them. In total he

and developed his skills in horticulture that carried out seven experiments where he cross

would ultimately lead him to choose garden pea pollinated plants with the seven contrasting
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characteristics he chose (Mawer, 2006 pg. 56). hybrids, F2. Mendel’s results showed that the

In 1857, the offspring generation was fully dominant to recessive ratio was 3:1. He also

grown and Mendel observe which traits were experimented with cross pollinating plants with

passed and how they were expressed. In his two different traits. The resulting ratio of his

notes, he labeled traits either dominant or results was found to be 9:3:3:1 and he realized

recessive. In the case of the cross pollination that the inheritance of one trait does not affect

between plants of contrasting height, tall or the other trait. In other words, the traits are

short, he labeled the tall plants as being inherited independently of each other (Mawer,

dominant and the short plants being recessive. 2006 pg. 61). It is important to note that the

This is because the offspring generation, F1, all independent inheritance of traits is only

measured the same height as the tall plants of followed when dealing with Mendelian

the parent generation (Mawer, 2006 pg. 57). genetics.

Plants with dominant traits were labeled as an

uppercase letter, A, and recessive traits were

labeled with a lowercase letter, a. The F1

generation was labeled as having both traits

and was represented with an uppercase and

lowercase letter, Aa. He then noted in each

experiment which trait was dominant and

recessive. The hybrid plants would then self-

pollinate and he would observe the traits

Punnett Square Mendel Flowers, Madeleine Price Ball, May 5,

present. The first generation of hybrids, F1, only 2007, CC0.

had dominant traits expressed but recessive

traits appeared in the second generation of

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Figure 2. A Punnett Square where a daughter cells of each haploid gamete will

monohybrid cross between two heterozygotes contain only one copy of a gene. During

shows the phenotypic ratio of the offspring. fertilization, haploid gametes from each

parent will fuse to form a diploid organism

The Laws of Mendelian Genetics
called a zygote. The zygote contains one

From Mendel’s observations and copy of a gene from each parent.

results, three laws can be stated: 2. Law of independent assortment states that

1. Law of segregation states that the offspring traits are inherited independently of each

inherit one copy of a gene from each parent other and that one trait does not affect the

(Pagel, 2002). This can be explained by inheritance of another trait (Pagel, 2002).

observing the F1 and F2 generation of Mendel decided to cross two pea plants

Mendel’s work. Since each parent plant of that had different traits from his two

the F1 generation has a heterozygous different experiments. He crossed a plant

genotype, Aa, they will have one dominant with different pea color and cotyledon color

allele and one recessive allele. By using a and calculated the ratio of the offspring’s

Punnett square, it can be observed that the genotype to still have a 3:1 ratio. The 3:1

genotype of the offspring will inherit one ratios combined for both traits results in a

allele from each parent. If two 9:3:3:1 ratio. This proves that the

heterozygous parents are crossed, then the inheritance of a trait operates

resulting offspring’s genotype will be independently of each other.

homozygous dominant, AA, heterozygous, 3. Law of dominance states that two versions

Aa, and homozygous recessive, aa. This law of an allele exist where one is dominant and

is also supported by meiosis, the type of cell one is recessive (Pagel, 2002). A dominant

division performed by gametes. The allele is expressed and its phenotype can be
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observed whereas a recessive allele is Independent Assortment & Segregation, Mariana Ruiz Villarreal,

September 12, 2008, Public Domain.

masked by a dominant allele and its
Figure 3. A dihybrid cross where all three laws
phenotype cannot be observed. The law of
can be observed resulting offspring with a
dominance is apparent in when observing
phenotypic ratio of 9:3:3:1.
Mendel’s work as the parent, pure-bred

generation contained homozygous alleles, Extensions and Applications

one dominant and one recessive. When
Mendelian inheritance is a model used
they were cross pollinated, the resulting
when determining how inheritance operates in
offspring displayed only the phenotype of
different species. Extensions of mendelian
one parent. Therefore, the phenotype
genetics also include codominance and
expressed by the offspring had to be
incomplete dominance. Codominance and
dominant. In the experiment where a tall
incomplete dominance were not observed by
plant was cross pollinated with a short
Mendel, but the mode of inheritance applies to
plant, the resulting offspring were tall.
certain traits. In codominance, more than one
Mendel discovered that one trait was
allele is expressed for heterozygotes. Red blood
dominant over the other trait.
exhibit codominance where cells can have the A

antigen, IA, the B antigen, IB, or no antigen, i

(Pierce, 2016). Both the A and B antigen are

dominant while having no antigen is recessive.

If both the A and B antigen are inherited then

the offspring will have a blood type of AB since

both alleles are being expressed. The genotype

follows the pattern of mendelian genetics but

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the phenotype does not. In incomplete correlate the concentrations of high-density

dominance, the heterozygote does not fully lipoproteins with coronary heart disease.

express the dominant allele (Pierce, 2016). An Mendelian genetics can also be used to

intermediate is created where the dominant determine how disorders or conditions affect a

trait is not fully observed. When crossing two population. In one study, they applied

heterozygous individuals, the expected mendelian genetics to male infertility (Hwang,

genotypic ratio should be 3:1, but if the Yatsenko, Jorgez et al 2010). The study draws

principle of incomplete dominance applies, then parallels to Mendel’s garden pea experiment as

the genotypic ratio will be 1:2:1. Like they attempted to discover how the inheritance

codominance, the genotypes follow mendelian of infertility works. This study would not have

genetics but the phenotypes do not. been possible before, but due to assisted

reproductive techniques (ART), the males are

The basic principles of Mendelian
able to successfully fertilize and produce
genetics have resulted in numerous types of
offspring. Prior to ART, it would be difficult to
related principles. Mendelian randomization is a
understand how heredity for infertility operates
method that also operates on the law of
since no offspring can be produced naturally.
independent assortment and it is used to
ART allows infertile males to pass on their genes
determine if a risk factor and its resulting
allowing researchers to understand its mode of
outcome are associated with each other
inheritance.
(Emdin, Khera, Kathiresan, 2017). In the study,

they used mendelian randomization to

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References

Emdin CA, Khera AV, Kathiresan S. Mendelian Randomization. JAMA. 2017;318(19):1925–1926.

Hwang, K., Yatsenko, A. N., Jorgez, C. J., Mukherjee, S., Nalam, R. L., Matzuk, M. M. and Lamb, D. J.
(2010), Mendelian genetics of male infertility. Annals of the New York Academy of Sciences,
1214: E1–E17.

Mawer, S. (2006). Gregor Mendel: planting the seeds of genetics. New York: Abrams.

Pagel, M. (Ed.). (2002). Encyclopedia of Evolution. Oxford: Oxford University Press.

Pierce, B. A. (2016). Genetics: a conceptual approach (6th ed.). New York: W.H. Freeman and Company.
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Postwrite

After reading Markel’s strategy on writing definitions, I decided to utilize partitioning, principle
of operation, etymology, writing sentence definitions. Partitioning can be observed under the heading
“The Laws of Mendelian Genetics” where the three laws are enumerated to allowing the reader to easily
identify them. In the introduction I utilize the principles of operation and writing sentence definitions.
To understand how genetics work, the reader must be familiar with the basic terminology so I defined
multiple keywords associated with genetics and wrote them in an order of increasing complexity all
stemming from the single definition of the word “gene”. To understand why it’s called Mendelian
Genetics, I described Gregor Mendel’s early life, research, and how his research lead to the concepts
associated with the three laws of genetics.