Principles of Hereditary 1

Key terms

Mendel's two laws: principle of segregation, principle of independent assortment

Chapter 3: Basic Principles of Hereditary

→ how genes are passed from generation to generation
→ how factors like dominance influence inheritance
→ Gregor Mendel's principles
→ statistical analysis

Section 3.1: Gregor Mendel Discovered the Basic Principles of Heredity

→ conducted by Mendel in the mid 1800s
→ led to develop two laws that govern genetic heredity
→ hiss laws & extensions still form basis for all modern genetic applications
→ Gregor Mendel and his success in genetics:
● Proper experimental model
● Used an experimental approach and analyzed results mathematically
● studied easily differentiated characteristics
→ choice of experimental subject
● Pea plant Pisum sativum in his studies of heredity
○ Used plants because they are easy to cultivate, they grow quickly, produce many
offspring (seeds)
○ Used numerous types of pea plants to look at different traits
○ Genetically pure
→ discovered the basic principles of heredity
● Looked at 7 characteristics
 ○ Seed colour, shape, coat colour, pod colour, pod shape, flower position, stem
length

QUESTION
Which of the following factors did not contribute to Mendel's success in his study of heredity
a. His use of the pea plant
b. His study of plant chromosomes
c. His adoption of an experimental approach
d. His use of mathematics

Important terms
● Gene: an inherited factor (region of DNA) that helps determine a characteristic
● Allele: one of two or more alternative forms of a gene
● Locus: specific place on a chromosome occupied by an allele
● Genotype: set of alleles possessed by an individual organism
● Heterozygote: an individual organism possessing two different alleles at a locus
● Homozygote: an individual organism possessing two of the same alleles at a locus
● Phenotype or trait: the appearance or manifestation of a characteristic
● Characteristic or character: an attribute or feature possessed by an organism
→ locus
● At each locus, a diploid organism possesses two alleles located on different homologous
chromosomes
● The big ‘R’ is representing the allele that
encodes for round seeds
● The little ‘r’ is representing an allele that
encodes for wrinkled seeds
● Different alleles for a particular gene, a
cauchy by the same location on homologous
chromosomes
QUESTION
1. What is the difference between a locus and an allele?
a. A locus is a place on a chromosome where genetic information encoding a
characteristic is located
b. An allele is a version of a gene that encodes a specific trait
2. What is the difference between a genotype and phenotype?
a. A genotype is the set of alleles possessed by an individual organism
b. A phenotype is the manifestation or appearance of a characteristic

Section 3.2: Monohybrid crosses Reveal the Principle of Segregation and the Concept of
Dominance
→ monohybrid cross: cross between two parents that differ in a single characteristic
→ Mendel's experiment
● Spent two years selecting the variety of pea plants in these experiments
● Question: when peas with two different traits- round and wrinkled seeds- are crossed,
will their progeny exhibit one of those traits, both, or an intermediate trait?
→ methods
1. To cross different varieties of peas, mendel removed the anthers from flowers to prevent
self-fertilization
2. And dusted the stigma with pollen from a different plant
3. The pollen fertilized ova, which developed into seeds
4. The seeds grew into plants
● Used pure-breeding: refers to being homozygous, possessing the same trait on both
locus on the homologous chromosome
● P generation stands for parental generation
● Offspring = F1 generation (kids of the parents) (familial)
5. Mendel crossed two homozygous varieties of peas
6. All the F, seeds were round. Mendel allowed plants grown from these seeds to self-
fertilize
7. ¾ of F2 seeds were round and ¼ were wrinkled, a 3;1 ratio
Conclusion: the traits of the parent plants do not blend> Although F1 plants display the
phenotype of one parent, both traits are passed to F2 progeny in a 3:1 ratio

→ what Monohybrid crosses reveal

● One character is encoded by two
genetic factors
● Two genetic factors (alleles)
separate when gametes are
formed
● The concept of dominant and
recessive traits
● Two alleles separate with equal
probability into the gametes
→ Principle of Segregation: (Mendel's first law)
● Each individual diploid organism possesses two alleles for any particular characteristic
● Two alleles segregate when gametes are formed, and one allele goes into each gamete
→ the concept of dominance
● When two different alleles are present in a genotype, only the trait encoded by one of
them (the dominant allele) is observed in the phenotype
→ Mendel's monohybrid crosses revealed the principle of segregation and the concept of dominance
1. Crossed a plant homozygous for round seeds (RR) with a plant homozygous for wrinkled
seeds (rr)
2. The two alleles in each plant separated when gametes were formed; one allele went into
each gamete.
3. Gametes fused to produce heterozygous F1 plants that had round seeds because round
is dominant over wrinkled
4. Mendel self-fertilized the F1 to produce the F2
5. Which appeared in a 3:1 ratio of round to wrinkled
6. Mendel also self-fertilized the F2
7. To produce F3 seeds

P Generation F1 Generation

F2 Generation

F3 generation
QUESTION
How did Mendel know that each of his pea plants carried two alleles encoding a characteristic?
● The traits encoded by both alleles appeared in the F2 progeny

→ chromosomal Theory of Heredity

● Water Sutton (1900s)
● Genes are located on chromosomes
● Each homologous pair chromosome has one maternal chromosome and one parental
chromosome
● These pairs segregate independently into gametes in meiosis, and he concluded that
this process is the biological basis for Mendel's principles of heredity
● The symbols in genetic crosses correspond to alleles on chromosomes
○ Shorthand notation for a particular sequence of DNA in the chromosome that
encode particular phenotypes
→ what is going on from a chromosome/meiosis standpoint
1. The two alleles of genotype Rr are located on homologous chromosomes
2. Which replicate in the S phase of meiosis
3. In prophase 1 of meiosis, crossing over may or may not take place
4. In anaphase 1, the chromosomes separate
5. If not crossing over has taken place, the two chromatids of each chromosome segregate
in anaphase 11 and are identical
6. If crossing over has taken place, the two chromatids are no longer identical, and the
different alleles segregate in anaphase 11
→ How Mendel tested his theory
● Tested the theory of inheritance of dominant traits using backcrosses
○ Cross a F1 genotype and either of the parental genotypes
● Predicting the outcomes of genetics crosses
○ The punnett square
→ testing theory of inheritance of dominance with punnett squares
● Cross an F1 tall plant (heterozygous = Tt) with a short
parental variety (tt)
● Principle of segregation tells us that the two alleles in each
parents separate
○ One passes to each gamete
● Conclusion:
○ genotype ratio = 1 Tt: 1 tt
○ Phenotype ratio = 1 tall : 1 short

QUESTION
If an F1 plant (figure 3.3) is backcrossed to the parent with round
seeds, what proportion of the progeny will have wrinkled seeds? (use
a punnett square)
a. ¾
b. ½
c. ¼
d. 0

→ probability: the likelihood of the occurrence of a particular event

● Used in genetics to predict the outcome of a genetic cross
● Multiplication rule
● Addition rule
→ multiplication Rule:
● Probability of two or more independent events taking
place together is calculated by multiplying their
independent probabilities
● Ex. rolling a dice

→ addition rule
● Probability of any one of two or more mutually exclusive
events is calculated by adding the probabilities of these
events
● Mutually exclusive means that one event excludes the
possibility of the occurrence of the other event

QUESTION
If the probability of being blood-type A is ⅛ and the probability
of blood-type O is ½ what is the probability of being either
blood-type A or O?
a. ⅝
b. ½
c. ⅛
d. 1/16

→ the Test Cross

● Cross between and individual with an unknown genotype and an individual with the
homozygous recessive genotype
● A test cross can reveal the genotype of the first individual
→ ratio in simple crosses
● Ratios that appear in progeny of simple crosses in which a single locus is under
consideration and one of the traits exhibits dominance

Section 3.3: Dihybrid Crosses Reveal the Principle of Independent Assortment

→ Dihybrid crosses: examine two traits at a time
→ the principle of independent assortment
● Mendel's second law
● Alleles at different loci separate independently of one another

→ experiment for mendel's second law

● Question: do alleles encoding different traits separate independently?
● Methods
○ P generation: round/wrinkled, yellow/green (yellow, round is dominant trait)
■ Gametes: RY, ry
■ Crossing these alleles = fertilization leads to F1 generation
○ F1 generation: starts with the Rr Yy fertilized from P
generation
■ Creates 4 types of gametes = RY, ry, Ry, rY
■ Self-fertilization occurs resulting in F2 generation
○ F2 generation: phenotypic ratio using punnett square
● Conclusion: the allele encoding color separated independently
of the allele encoding seed shape, producing a 9: 3: 3: 1 ratio in
the F2 progeny
→ dihybrid crosses
● Relate the principle of independent assortment to meiosis
● Alleles located on different chromosomes will sort independently
QUESTION
How are the principles of segregation and independent assortment related, and how are they
different?
● Both the principle of segregation and the principle of independent assortment refer to the
separation of alleles in anaphase 1 of meiosis
● The principle of segregation says that these alleles separate, and the principle of
independent assortment says that they separate independently of alleles at other loci.

→ dihybrid crosses
● Applying probability and the branch diagram to dihybrid crosses
1. The dihybrid cross is broken into two monohybrid crosses
2. And the probability of each character is determined
3. The individual characters and the associated probabilities are then combined by using
the branch method
Section 3.4: Observed Ratios of Progeny May Deviate from Expected Ratios by Chance
→ Chi-Square Goodness of Fit
● Indicates the probability that the difference between the observed and expected values
is due to chance
● O = observed; E = expected
● Df = degrees of freedom
● P = probability associated with x2
● How many phenotypes are there?
○ E.g. 2 phenotypes (round, wrinkled)
○ Df = # phenotypes (n) - 1
○ Df = 2-1, df = 1

→ looking at the table

● Row 1 (df = 1)
● We have our x2 value = 6.0, now we find the probability associated with it
○ Falls between the 0.025 value and the 0.01
○ Therefore, the probability is less than 25% that the deviation we observed
between the expected and observed is due to chance
● Use the 0.05/ 5% mark as the cutoff value
○ If deviation between expected and observed is greater than that, we assume
chance is responsible for the difference
○ When P is less than 0.05, a significant difference exists between the observed
and expected values
QUESTION
A chi-square test comparing observed and expected numbers of progeny is carried out, and the
probability associated with the calculated chi-square value is 0.72. What does this probability
represent?
a. Probability that the correct results were obtained
b. Probability of obtaining the observed numbers
c. Probability that the difference between observed and expected numbers is significant
d. Probability that the difference between observed and expected numbers could be
due to chance
Ex. crossing purple flowers and white flowers
● Plant with purple flowers is crossed with white
flowers, and the F1 are self-fertilized
● To produce 105 F2 progeny with purple
flowers and 45 with white flowers (an apparent
3:1 ratio)
● The expected values are obtained by
multiplying the expected proportion by the
total… and then the chi-square value is
calculated

● Degrees of freedom = n-1

● DF = 2-1 = 1
● Probability (from table 3.5) = 0.1 < P < 0.5

● The probability associated with the calculated chi-square value is between 0.10 and 0.50
indicating a high probability that the difference between observed and expected values is
due to chance

● Conclusion: there is no significant difference between observed and expected values

Summary for Chi-square goodness of fit test

→ chi-square test can be completed by the following steps
● Identify hypotheses ( do we think the observed and expected will agree?)
○ Find ratios
○ Purple flowers divided by total = % vice versa
● Construct a table of frequencies (observed vs. expected)
○ Calculate expected numbers
○ 3:1 ratio = 75% : 25%
 ○ Calculate by taking % of total for expected values
● Apply the chi-squared formula
○ Apply to both phenotypes then add numbers together for X2
● Determine the degree of the freedom (df)
○ Only if the chi-square value is statistically significant
○ Df = n-1 (n = total number of possible phenotypes)
● Identify the p-value
● Based on the p-value, is the difference significant?