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BSMT202 – Cytogenetics

Mendelian Genetics First Semester A.Y. 2019-2020

Sherwin Basisto Toriano, RMT, MSMT First Exam
July 18, 2019 1-2

OUTLINE Mendel self-fertilized the F1 generation and obtained the 3:1

ratio, he correctly theorized that genes can be paired in three
II. MENDEL’S LAWS different ways for each trait: PP, Pp and pp. The capital P
A. Law of Segregation represents the dominant factor and lowercase p represents
B. Law of Independent Assortment the recessive.
III. REDISCOVERY OF MENDEL’S WORK  Mendel stated that each individual has two factors for each
A. Law of Dominance trait, one from each parent. The two factors may or may not
B. Law of Segregation contain the same information. If the two factors are identical,
C. Law of Independent Assortment the individual is called homozygous for the trait. If the two
V. BIOLOGICAL SIGNIFICANCE OF MENDEL’S LAWS factors have different information, the individual is called
A. Incomplete Dominance
B. Codominance
C. Lethal Genes

1. Sherwin Basisto Toriano, RMT, MSMT’s ppt


 The laws of inheritance were derived by Gregor Mendel, a 19th
century monk conducting hybridization experiments in garden
Figure 1. Mendel crossed two pure strains of pea plants with purple and
peas (Pisum sativum). white flowers and discovered that the first filial generation were all
 Between 1856 and 1863, he cultivated and tested some purple.
29,000 pea plants. From these experiments, he deduced two
generalizations which later became known as Mendel’s Law of  The alternative forms of a factor are called alleles. The
Heredity. genotype of an individual is made up of the many alleles it
 A large contribution to Mendel’s success can be traced to his possesses. An individual’s physical appearance, or phenotype,
decision to start his crosses only with plants he demonstrated is determined by its alleles as well as by its environment.
were true breeding. He also measured only absolute (binary)  An allele is one of the two or more alternative forms of a gene
characteristics, such as color, shape, and position of the found at the same place on a chromosome.
offspring rather than quantitative characteristics.  An organism’s genotype is the set of genes that it carries.
 He expressed his results numerically and subjected them to There are three kinds of genotypes: homozygous dominant,
statistical analysis. His method of data analysis and his large heterozygous and homozygous recessive.
sample size gave credibility to his data.  An organism’s phenotype is all of its observable
characteristics—which are influenced both by its genotype
and by the environment.
Table 1. Genotype and Phenotype of Pea Plants
 Mendel discovered that by crossing white flower and purple
flower plants, the result was not a hybrid offspring. Rather
PP (homozygous dominant) Purple
than being a mix of the two, the offspring was purple Pp (heterozygous) Purple
flowered. Pp (homozygous recessive) White
 He then conceived the idea of heredity units, which he called
“factors”, one which is a recessive characteristic and the other  What about flamingos, are they always pink?
dominant. Mendel said that the factors, later called genes,  An individual possesses two alleles for each trait: one allele is
normally occur in pairs in ordinary body cells, yet segregate given by the female parent and the other by the male parent.
during the formation of sex cells. Each member of the pair They are passed on when an individual matures and produces
becomes part of the separate sex cell. gametes: egg and sperm. When gametes form, the paired alleles
 The dominant gene, such as the purple flower in Mendel’s separate randomly so that each gamete receives a copy of one of
plants, will hide the recessive gene, the white flower. After the two alleles.

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 The presence of an allele doesn’t promise that the trait will be alleles for the two characters segregated into gametes.
expressed in the individual that possesses it. In heterozygous Mendel had two hypotheses for how this might work.
individuals, the only allele that is expressed is the dominant one.  Under the hypothesis of dependent assortment, the alleles
The recessive allele is present, but its expression is hidden. inherited from the parental generation should always be
transmitted to the next generation in the same combinations.
 Under the hypothesis of independent assortment, alleles for
A. Law of Segregation
different characters should segregate independently of each
 It states that when any individual produces gametes, the copies of other, meaning that alleles should be packaged into gametes
a gene separate, so that each gamete only receives one copy. A in all possible combinations, as long as each gamete has one
gamete will receive one allele or the other. allele for each gene.
 The direct proof of this was later found when the process of
meiosis came to be known. In meiosis, the paternal and maternal
chromosomes get separated and the alleles with the characters
are segregated into two different gametes.

Figure 2. Mendel’s Law of Segregation

B. Law of Independent Assortment

 The Law of Independent Assortment, also known as
“Inheritance Law”, states that alleles of different genes assort
independently of one another during gamete formation.
 While Mendel’s experiment with mixing one trait always Figure 3. Mendel’s experiment to distinguish between these two hypotheses.
The results of the experiment confirmed that the alleles for these characters
resulted in a 3:1 ratio between dominant and recessive
undergo independent assortment.
phenotypes, his experiments with mixing two traits (dihybrid
cross) showed 9:3:3:1 ratio. But the 9:3:3:1 table shows that
each of the two genes are independently inherited with a 3:1 NICE TO KNOW
ratio.  April is Oral Cancer Awareness Month (USA)
 Mendel concluded that different traits are inherited  A good time to increase public awareness
 Free oral cancer screening
independently of each other, so that there is no relation, for  School education screenings
example, between a cat’s color and tail length. This is only
true for genes that are not linked to each other.
 In independent assortment, the chromosomes that end up in a
 Mendel’s conclusions were largely ignored. Although they
newly formed gamete are randomly sorted from all possible
were not completely unknown to biologists of the time, they
combinations of maternal and paternal chromosomes.
were not seen as generally applicable, even by Mendel
Because gametes end up with a random mix instead of a pre-
defined “set” from either parent, gametes are therefore
considered assorted independently. As such the gamete can  In 1900, however, his work was “re-discovered” by three
end up with any combination of paternal or maternal European scientists:
chromosomes. Any of the possible combinations of gametes 1. Hugo de Vries
formed from maternal and paternal chromosomes will occur 2. Carl Correns
with equal frequency. 3. Erich von Tschermak
 At the time of Mendel’s pea plant experiments, no one knew  The “re-discovery” made Mendelism an important but
how organisms formed gametes. As Mendel studied the controversial theory. Its most vigorous promoter in Europe
inheritance of two different characters, he wondered how the was William Bateson, who coined the term “genetics”, “gene”
and “allele” to describe many of its tenets.

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 Many biologists also dismissed the theory because they were  Therefore, the dominant genes produce a specific phenotype
not sure it would apply to all species. while the recessive genes fail to do so. In the heterozygous
 However, later work by biologists and statisticians such as RA condition, the dominant gene is also able to express itself.
Fischer showed that if multiple Mendelian factors were  Importance:
involved in the expression of an individual trait, they could  The phenomenon of dominance is of practical importance
produce the diverse results observed. as the harmful recessive characters are masked by the
 Thomas Hunt Morgan and his assistants later integrated the normal dominant characters in the hybrids.
theoretical model of Mendel with the Chromosome Theory of  In human beings, a form of idiocy, diabetes, hemophilia,
Inheritance. etc. are recessive characters. A person hybrid for all these
characteristics appears perfectly normal. Thus, harmful
recessive genes can exist for several generations without
IV. MENDEL’S LAWS OF INHERITANCE expressing themselves.

 Mendel postulated three laws, which are now called after his B. Law of Segregation
name as Mendel’s laws of heredity. These are:  AKA Purity of Gametes
1. Law of dominance  It states that when a pair of contrasting factors or genes or
2. Law of segregation allelomorphs are brought together in a heterozygote (hybrid),
3. Law of independent assortment the two members of the allelic pair remain together without
being contaminated and when gametes are formed from the
A. Law of Dominance hybrid, the two separate out from each other and only one
 When two homozygous individuals with one or more sets of enters each gamete.
contrasting characters are crossed, the characters that appear  For example:
in the F1 hybrids are dominant characters and those that do  Pure tall plants are homozygous and therefore, possess
not appear in F1 are recessive characters. genes (factors) TT; similarly, dwarves possess genes tt.
The tallness and dwarfness are two independents but
contrasting factors or determiners. Pure tall plants
produce gametes all of which possess gene T and
dwarf plants t type of gametes.
 During cross fertilization, gametes with T and t unite to
produce hybrids of F1 generation. These hybrids
possess genotype Tt. It means F1 plants, though tall
phenotypically, possess one gene for tallness and one
gene for dwarfness.
Figure 4. F2 generation

Figure 6. Gametes unite at random and when gametes are numerous, all
possible combinations can occur, with the result that tall and dwarf appear in
the ratio of 3:1
Figure 5. Phenotype versus genotype

 The dominance and recessiveness of genes can be explained

based on enzymatic functions of genes. The dominant genes
are capable of synthesizing active polypeptides or proteins
that form functional enzymes, whereas the recessive genes
(mutant genes) code for incomplete or nonfunctional

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Figure 7. Punnett squares can accurately predict the ratios of various

observable traits as well as their underlying genetic composition

 The awareness of early signs and symptoms (for cervical, breast,
colorectal, and oral cancers) in order to get them diagnosed and
treated early before the disease becomes advanced.
 Early diagnosis programs are particularly relevant in low-resource Figure 8. Law of Independent Assortment
settings where the majority of patients are diagnosed in very late
stages and where there is no screening. V. BIOLOGICAL SIGNIFICANCE OF MENDEL’S LAWS
 Mendel’s work remained buried for about three decades, but
C. Law of Independent Assortment after its rediscovery, the laws are being used for the various
 The inheritance of more than one pair of characters (two pairs branches of breeding. These are used for improving the
or more) is studied simultaneously, the factors or genes for varieties of fowls and their eggs; in obtaining rust-resistant
each pair of characters assort out independently of the other and disease-resistant varieties of grains. Various new breeds
pairs. Mendel formulated this law from the results of a dihybrid of horses and dogs are obtained by crossbreeding
cross. experiments. The science of Eugenics is the outcome of
 For example: Mendelism, which deals with the betterment of human race.
 The cross was made between plants having yellow and
round cotyledons, and plants having green and wrinkled VI. MENDELIAN DEVIATION
cotyledons. 1) Incomplete dominance
 The F1 hybrids all had yellow and round seeds. When 2) Codominance
these F1 plants were self-fertilized, they produced four 3) Lethal genes
types of plants in the following proportion:
 Yellow and round  9 A. Incomplete Dominance
 Green and round  3  Mendel always observed complete dominance of one allele
 Yellow and wrinkled  3 over the other for all the seven characters, which he studied in
 Green and wrinkled  1 garden pea. Later on, cases of incomplete dominance were
 In Four o’clock plant (Mirabilis jalapa), there are two types of
flower, red and white. A cross between red and white-
flowered plants produced plants with intermediate color.

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Figure 10. This Punnet square shows an AB/AB blood type

cross. Homozygotes ( ) express either the A or the B
phenotype, and heterozygotes ( ) express both phenotypes
equally. The individual has blood type AB. In a self- cross
between heterozygotes expressing a codominant trait, the three
possible offspring genotypes are phenotypically distinct. However,
the 1:2:1 genotypic ratio characteristic of a Mendelian monohybrid
cross still applies

 Tell your patient what you are doing with each procedure and why
Figure 9. The ratio of phenotypes in the F2 generation is not 3:1  Special attention should be lesions on the tongue and floor of the
(dominant:recessive), as seen with completely dominant alleles, but rather mouth
a 1:2:1 ratio of red:pink:white flowers  Always note any changes in color, texture of all soft tissues or any
swelling, if you detect an abnormality determine the history of the
lesion. If the abnormality has been present for more than 2 weeks, take
B. Codominance
appropriate action to obtain a biopsy
 In codominance, both alleles express their phenotypes in
heterozygous greater than an intermediate one. The example C. Lethal Genes
is AB blood group in human. The people who have blood type
AB are heterozygous exhibiting phenotypes for both the IA  A gene which cause the death of its carrier when in
and IB alleles. homozygous condition
 The main difference between codominance and incomplete  Mendel’s findings were based on equal survival of all
dominance lies in the way in which genes act. In case of genotypes.
codominance, both alleles are active while in case of  Lethal genes have been reported in both animals as well as
incomplete dominance both alleles blend to make an plants. In mice, allele for yellow coat color is dominant over
intermediate one. grey. When a cross is made between yellow and grey, a ratio
of 1:1 for yellow and grey mice was observed. This indicated
that yellow mice are always heterozygous because yellow
homozygotes are never born due to homozygous lethality.
 Such genes were not observed by Mendel. He always got 3:1
ratio in F2 for single gene characters.
 Lethal genes can be recessive, as in the mouse experiments.
Lethal genes can also be dominant, , conditional, semilethal,
or synthetic, depending on the gene or genes involved.

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