Essentials of Genetics

Tenth Edition

Chapter 3
Mendelian
Genetics

Copyright © 2020, 2016, 2012 Pearson Education, Inc. All Rights Reserved
Introduction

• First insights into mechanism for inheritance of biological

traits—150 years ago.
• 1866: Gregor Mendel published his research on garden
peas (Pisum sativum):
• Determined discrete units of inheritance exist.
• Cytological data used to relate chromosomal behavior
during meiosis to Mendel’s principles of inheritance:
• Established field of transmission genetics—how genes
are transmitted from parents to offspring.
 3.1 Mendel Used a Model
Experimental Approach to Study
Patterns of Inheritance
Mendel’s Methodology (1 of 2)

• Mendel’s success attributed to his model of experimental

design and analysis.
• 1856: Mendel performed his first di-hybridization
experiment:
• Used model organism—garden peas.
• Findings were unappreciated until after his death.
Mendel’s Methodology (2 of 2)

• Mendel followed seven visible features (characteristics).

• Each character had two contrasting forms (traits):
• Stem height
• Seed shape and color
• Pod shape and color
• Flower color and position
• Figure 3.1
Figure 3.1
Mendel’s Methodology

• Mendel’s success is attributed to:

• Choice of a suitable organism.
• Restriction of examination to one or a few pairs of
contrasting traits.
• His accurate quantitative records.
• Mendel’s postulates have become the principles of
transmission genetics.
3.2 The Monohybrid Cross Reveals
How One Trait Is Transmitted from
Generation to Generation
Monohybrid Cross (1 of 2)

• Monohybrid cross:
• Crosses of only one pair of contrasting traits.
• Involves mating true-breeding individuals from two
parent strains.
• Reveals how one trait is transmitted from generation to
generation.

• Original parents are P1 generation:

• Offspring are F generation.
1

• F2 generation results from selfing; self-fertilizing of

individuals from first generation ( F offspring).
1
Monohybrid Cross (2 of 2)
• Mendel’s monohybrid cross:
• Tall plants crossed with dwarf plants.
• F generation identical to one parent—tall plants.
1

• F2 generation selfed:
• Three-fourths of plants exhibit same trait as F1
generation.
• One-fourth exhibit contrasting trait that disappeared in
F1 generation (Figure 3.2).
Figure 3.2 (1 of 2)
The monohybrid cross between
tall (D) and dwarf (d) pea
plants. Individuals are shown in
rectangles, and gametes are
shown in circles.
Reciprocal Cross
• Reciprocal cross:

• F1 and F2 patterns are similar regardless of pollen

and ovum source.

• The results of monohybrid cross are not sex dependent.

• Mendel proposed that results were due to “particulate
unit factors” for each of seven traits.
• Factors (genes) serve as basic units of heredity and
pass unchanged from generation to generation.
Mendel’s First Three Postulates

• Unit factors in pairs:

• Genetic characters are controlled by unit factors
existing in pairs in individual organisms.
• Dominance/recessiveness:
• Pair of two unlike unit factors for single characteristic in
individual, one unit factor dominant, the other recessive.
• Segregation:
• Paired unit factors segregate (separate) randomly during
gamete formation.
Modern Genetic Terminology (1 of 2)

• Phenotype: Physical expression of trait—genetic makeup

(tall and dwarf).
• Genes: Units of inheritance—found in alternative versions
called alleles.
• Genotype: Genetic (allelic) makeup of individual for specific
trait (DD, Dd, dd).

• Reading genotype → phenotype is revealed.

Modern Genetic Terminology (2 of 2)

• Organism inherits two alleles for each trait:

• It inherits one from each parent.
• Alleles can be same or different.
• Homozygous genotype has identical alleles (DD, dd).
• Heterozygous genotype has two different alleles (Dd).
• See Figure 3.2.
Punnett Squares
• Punnett square:
• Allows genotypes and phenotypes resulting from cross
to be visualized easily (Figure 3.3).
• Vertical columns represent female parent.
• Horizontal columns represent male parent.
• Provides all possible random fertilization events.
The Testcross: One Character

• Testcross:
• Determines if individual displaying dominant phenotype
is homozygous or heterozygous for that trait.
• See Figure 3.4.

• Example: F2 generation plants could have DD or Dd

genotype—testcross determines genotype.

• Testcross always uses homozygous recessive

individual crossed with unknown genotype individual.
Figure 3.4
Testcross of a single character. In (a), the tall parent is homozygous, but
in (b), the tall parent is heterozygous. The genotype of each tall P1 plant
can be determined by examining the offspring when each is crossed with
the homozygous recessive dwarf plant.
3.3 Mendel’s Dihybrid Cross
Generated a Unique F2 Ratio
Dihybrid Cross
• Dihybrid cross (two-factor cross):
• Mendel studied inheritance of two traits simultaneously
• Cross involving two pairs of contrasting traits →
generates unique F2 ratio.

• Example: Round-yellow seeds bred with green-wrinkled

seeds:
• F1 will show both dominant traits.

• F2 will show 9:3:3:1 ratio (Figure 3.5).

Figure 3.5 F1 and F2 results of Mendel’s dihybrid crosses in which the plants on the
top left with yellow, round seeds are crossed with plants having green,
wrinkled seeds, and the plants on the top right with yellow, wrinkled seeds
are crossed with plants having green, round seeds.
Mendel’s Fourth Postulate: Independent
Assortment (1 of 2)

• Mendel’s fourth postulate: Independent Assortment:

• Think of the results of a dihybrid cross as two
monohybrid crosses with traits being inherited
independently.
• Two pairs of contrasting traits are inherited
independently.
• We can predict frequencies of phenotypes by applying
the product law.
Product Law (1 of 2)
• Frequencies of all possible F2 phenotypes are calculated
by applying product law of probabilities:
• The probability of two or more independent events
occurring simultaneously is equal to the product of
their individual probabilities.
• Calculate probabilities for F phenotypes:
2

• Probability of F2 plant having yellow and round

seeds:
• Yellow 3 4 , wrinkled 14 → together 3/16 of the time
• Green 14 , wrinkled 14 → together 1/16 of the time
• See Figure 3.6.
Figure 3.6
Computation of the combined probabilities of each F2 phenotype for two

independently inherited characters. The probability of each plant being

yellow or green is independent of the probability of it bearing round or
wrinkled seeds.
Dihybrid Cross Punnett Square

• Dihybrid cross (two-factor cross) Punnett square:

• Observes two characters simultaneously.
• Mendel’s 9:3:3:1 dihybrid ratio:
• Ideal ratio based on probability events involving
segregation, independent assortment, and random
fertilization.
• See Figure 3.7: Punnett square of dihybrid cross.
Mendel’s Fourth Postulate: Independent
Assortment (2 of 2)

• Mendel’s fourth postulate: Independent Assortment

• During gamete formation, segregating pairs of unit
factors assort independently of each other.
• Whichever unit factor one pair receives does not
influence the outcome of segregation of the other pair.
• All possible combinations of gametes will form with
equal frequency.
Figure 3.7
Analysis of the dihybrid crosses shown
in Figure 3.5. The F1 heterozygous
plants are self-fertilized to produce an

F2 generation, which is computed using

a Punnett square. Both the phenotypic
and genotypic F2 ratios are shown.
 3.4 The Trihybrid Cross
Demonstrates That Mendel’s
Principles Apply to Inheritance of
Multiple Traits
Trihybrid Cross

• Trihybrid cross (three-factor cross):

• Process of segregation and independent assortment can
be applied to three contrasting traits.
• Results easily calculated if principles of segregation and
independent assortment are followed.
• See Figure 3.8.
Figure 3.8 Formation of P1 and F1 gametes in a trihybrid cross.
The Forked-Line Method

• Forked-line Method (Branch Diagram).

• Method used to solve crosses involving any number of gene
pairs—provided all gene pairs assort independently of each
other:
• Easier to use than Punnett square for analysis of
inheritance of larger number of traits.
• Uses simple application of laws of probability
established for dihybrid cross.
• Each gene pair assumed to behave independently during
gamete formation.
• See Figure 3.9.
Figure 3.9 Generation of the F2 trihybrid phenotypic ratio using the forkedline
method. This method is based on the expected probability of occurrence of
each phenotype.
3.6 Independent Assortment Leads
to Extensive Genetic Variation
Independent Assortment Leads to
Extensive Genetic Variation
• Independent assortment leads to extensive genetic
diversity:
• Number of different possible gametes: 2n, where n is
haploid number.

• Humans, n = 23; thus, 223 = 8×106 ( excess of 8

million) different types of possible gametes through
independent assortment.
• Each offspring represents only one of (8×106 )2 or one

of only 64 ×1012 potential genetic combinations.

3.7 Laws of Probability Help to
Explain Genetic Events
Law of Probability
• Genetic ratios (3/4 tall or 1/4 dwarf) expressed as
probabilities:
• Predict outcome of each fertilization event.
• Probabilities range:

• Range from 0.0 (event will not occur) to 1.0 (event

will occur).
Product Law (2 of 2)

• Product law
• “The probability of two or more independent events
occurring simultaneously is equal to the product of
their individual probabilities.”
• Two or more events are independent of one another if
outcome of each does not affect the outcome of the
other.
Product Law: Coin Toss
• Coin toss:
• Toss penny (P) and nickel (N) at same time; examine all
combinations of heads (H) and tails (T). There are four
possible outcomes:

• (PH : NH ) = (1/ 2 )(1/ 2 ) = 1/ 4

• (PT : NH ) = (1/ 2 )(1/ 2 ) = 1/ 4

• (PH : NT ) = (1/ 2 )(1/ 2 ) = 1/ 4

• (PT : NT ) = (1/ 2 )(1/ 2 ) = 1/ 4

Sum Law

• Sum law:
• Calculates probability that possible outcomes of two
events are independent of one another but can be
accomplished in more than one way.
• Probability of obtaining any single outcome equal to sum
of individual probabilities of all such events.
 3.8 Chi-Square Analysis Evaluates
the Influence of Chance on Genetic
Data
Mendel’s Ratios Are Hypothetical

• Mendel’s monohybrid and dihybrid ratios are

hypothetical predictions.
• Based on the following assumptions:
• Each allele is dominant or recessive.
• Segregation is unimpeded.
• Independent assortment occurs.*
• Fertilization is random.*

*Influenced by chance events—subject to random to

fluctuation.
Chi-Square (1 of 2)

• Chi-square analysis evaluates the influence of chance on

genetic data:
• The outcomes of independent assortment and
fertilization are subject to random fluctuations from
their predicted occurrences as a result of chance
deviation.
Chi-Square (2 of 2)

• Two major factors for predicting genetic outcomes:

• Outcomes of independent assortment and fertilization
are subject to random fluctuations as a result of
chance deviation.
• Sample size:
• As sample size increases → average deviation
from expected results decreases.
• Larger sample size diminishes the impact of chance
deviation on the final outcome.
Chi-Square Calculations and Null
Hypothesis (1 of 2)
• Null hypothesis (H0 ) :
• Assumes data will fit given ratio.
• Assumes no real difference between measured values
(or ratio) and predicted values (or ratio).
• Apparent difference attributed purely to chance.
Chi-Square Calculations and Null
Hypothesis (2 of 2)

• Null hypothesis (H0 ) :

• Be rejected:
• Observed deviation not due to chance alone.
• Fail to be rejected:
• Observed deviations due to chance alone.
Chi-Square (  )
2
left parenthesis chi squared right parenthesis

• Chi-square (  2
) analysis:

• Test for assessing goodness of fit of null hypothesis.

• Takes observed deviation and sample size into account.
• Rejects (does not reject) null hypothesis.

• Table 3.1 shows steps in  2 calculations for F2

generation of monohybrid cross.
Table 3.1 Chi-Square Analysis
Degrees of Freedom (df)

• Chi-square analysis:
• Requires degrees of freedom (df) be taken into account.

• Greater number of categories → more deviation is

expected as a result of chance (Figure 3.10).

• Degrees of freedom equal to n − 1:

• n is the number of different categories into which each
datum point may fall.
Figure 3.10 (1 of 2)
(a) Graph for converting  2 values to p values. (b) Table of  2 values for
selected values of df and p  2 values that lead to a p value of 0.05 or
greater (darker blue areas) justify failure to reject the null hypothesis.
Values leading to a p value of less than 0.05 (lighter blue areas) justify
rejecting the null hypothesis. For example, the table in part (b) shows
that for  2 = 0.53 with 1 degree of freedom, the corresponding p value is

between 0.20 and 0.50. The graph in (a) gives a more precise p value of
0.48 by interpolation. Thus, we fail to reject the null hypothesis.
Figure 3.10 (2 of 2)
Interpreting Probability Values
• Once the number of degrees of freedom is determined, the 2
value is interpreted in terms of the corresponding probability
value (p).

• Table 3.1:
• p = 0.26 → p value as percentage = 26%:

• Indicates that if same experiment repeated many times,

26% of trials expected to exhibit chance deviation
greater than(>) the initial trial.
• 74% show less deviation than initially observed as result
of chance.
p Value

• p values enable us to reject or fail to reject null hypothesis.

• p values between 0.05 and 1.0 :

• Indicate observed deviation will be obtained by chance

alone 5% or more of the time.
• Conclusion is not to reject null hypothesis.
• p values less than 0.05 :
• Indicates observed deviation obtained by chance alone
less than 5% of the time.
• Conclusion is to reject null hypothesis.
3.9 Pedigrees Reveal Patterns of
Inheritance of Human Traits
Pedigree

• Pedigree:
• Family tree with respect to given trait.
• Pedigree analysis reveals patterns of inheritance of the
trait being studied.
• Pedigrees are used to study modes of inheritance of
phenotypes in humans.
Pedigree Conventions (1 of 3)

• Figure 3.11:
• Convections geneticists follow to construct pedigrees
are illustrated.
• Parents are connected by a single horizontal line; vertical
lines lead to their offspring.
• If parents are related (consanguineous), such as first
cousins, they are connected by a double line.
• Sibs (offspring) are connected by a horizontal sibship
line.
Pedigree Conventions (2 of 3)

• Females are designated as circles—males as squares—

unknown sex as diamond.
• Generations are designated by Roman numeral.
• Sibs are placed from left to right in order of birth.
• Shading indicates expression of phenotype.
• Heterozygous individuals who do not express trait but are
known carriers have a dot.
Pedigree Conventions (3 of 3)
• Twins are indicated by diagonal lines stemming from vertical
line connected to sibship line:
• Identical (monozygotic) twins are indicated by diagonal
lines linked by horizontal line.
• Fraternal (dizygotic) twins lack connecting line.
• Deceased individuals have diagonal line through them.
• Individual for whom the pedigree was constructed is
proband (p).
Figure 3.11 Conventions commonly encountered in human pedigrees.
Pedigree Analysis

• Figure 3.12:
• Two pedigrees are illustrated:
• First one illustrates autosomal recessive pattern of
inheritance, such as albinism.
• Second one illustrates autosomal dominant pattern
of inheritance of a dominant trait for Huntington
disease.
 Representative pedigrees for two characteristics, one an autosomal
Figure 3.12 recessive trait, and one an autosomal dominant trait, both followed through
three generations.
 Example: Tay–Sachs Disease
• Molecular basis of normal and mutant genes and their resultant phenotype
have been revealed.
• TSD (Tay–Sachs Disease):
• Single mutant gene causes multiple effects.
• Recessive disorder—destruction of nervous system.
• Results from loss of activity of Hex-A (hexosaminidase A)—needed to
break down ganglioside GM2, lipid component of nerve cell membrane.

• Hex-A (hexosaminidase A):

• Without functional Hex-A, gangliosides accumulate within neurons,
causing deterioration of nervous system.
• Activity of one gene (one wild-type allele) is sufficient for normal
development.