Chapter 3

CHAPTER 3
MENDELIAN GENETICS
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Chapter 3 Outline - Learning

Objectives
1. Mendel Used a Model Experimental Approach to Study Patterns of Inheritance
2. The Monohybrid Cross Reveals How One Trait Is Transmitted from Generation to
Generation
3. Mendel’s Dihybrid Cross Generated a Unique F2 Ratio
4. The Trihybrid Cross Demonstrates That Mendel’s Principles Apply to Inheritance
of Multiple Traits
5. Mendel’s Work Was Rediscovered in the Early Twentieth Century
6. Independent Assortment Leads to Extensive Genetic Variation
7. Laws of Probability Help to Explain Genetic Events
8. Chi-Square Analysis Evaluates the Influence of Chance on Genetic Data
9. Pedigrees Reveal Patterns of Inheritance of Human Traits
10. Mutant Phenotypes Have Been Examined at the Molecular Level
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Maya Hobeika Kahwagi © USEK 2023-2024

 Inheritance of biological traits has been recognized for thousands of years
 ~150 years ago : Mendel 1866
 first significant insights into how inheritance takes place
 largely unnoticed until the turn of the twentieth century
 eventually established the concept of the gene as a distinct hereditary unit
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I- Mendel Used a Model Experimental

Approach to Study Patterns of
Inheritance
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I.1- Mendel’s Experimental Approach
 Mendel’s model organism: peas

 Easy to grow
 True-breeding strains
 Controlled matings: self-fertilization or cross-fertilization
 Grow to maturity in one season
 Observable characteristics with two distinct forms
 Mendel used seven visible features
 Each with two contrasting forms or traits
 True-breeding strains
 Mendel kept quantitative records
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I.2- Mendel’s Legacy
 Mendel was not appreciated during his lifetime

 His work was rediscovered
 Geneticists recognized Mendel had discovered the basis for the transmission of hereditary
traits
 Transmission genetics:
 How genes are transmitted from parents to offspring
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II- The Monohybrid Cross Reveals How

One Trait is Transmitted from
Generation to Generation
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II.1- Monohybrid crosses
 Monohybrid = Simplest cross - involving a single pair of contrasting traits

 True-breeding P1 generation: Original parents
 Parental generation
 F1 generation: Offspring
 First filial generation
 All plants have just one of two contrasting traits
 F2 generation: Offspring of F1 generation crossed (self fertilizing: “Selfing”)
 Second filial generation
 3/4 of plants exhibit same trait as F1 generation
 1/4 exhibit contrasting trait that disappeared in the F1 generation
 3:1 ratio
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II.2- Reciprocal Crosses
 Not sex dependent

 F1 and F2 patterns of inheritance similar regardless of P1 source
 Dwarf plant pollinates tall plant
 Tall plant pollinates dwarf plant
 Results for F1 and F2 are the same
 Reciprocal crosses
 Crosses made in both directions
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II.3- Particulate unit factors (genes)
 Basic units of heredity

 Are passed unchanged from generation to generation
 Determine various traits expressed by each individual plant
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II.4- Mendel’s Three Postulates
1. Unit factors exist in pairs

 Genetic characters controlled by unit factors
2. Dominance/Recessiveness
 In a pair of unit factors, one unit is dominant, the other recessive
3. Segregation
 Paired unit factors segregate (separate) independently during gamete formation
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II.5- Modern Genetic Terminology
 Phenotype
 Physical expression of a trait
 Gene
 Unit of inheritance
 Allele
 Alternative form of a single gene
 Genotype
 Genetic makeup of individual
 Alleles written in pairs (DD, Dd, or dd)
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II.5- Modern Genetic Terminology
 Organism inherits two alleles

 One from each parent
 several different systems for using symbols to represent genes
 Trait represented by the first letter of the recessive phenotype eg. Dwarf
 Lowercase italic for recessive d (dwarf)
 Uppercase italic for dominant D (grand)
 Homozygous/Homozygote
 Both alleles are the same (DD, dd)
 Heterozygous/Heterozygote
 Alleles are different (Dd)
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II.6- Punnett Square
 Reginald C. Punnett devised this approach

 Genotypes and phenotypes resulting from combining gametes can be visualized
 Displays all possible random fertilization events
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II.7- Testcross: One Character
 Testcross
 Determines if individual displaying dominant phenotype is homozygous or heterozygous for
that trait
 Cross between dominant phenotype and homozygous recessive
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III- Mendel’s Dihybrid Cross
Generated a Unique F2 Ratio
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 Dihybrid cross
 Two pairs of contrasting traits
 Generates unique F2 generation
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III.1- Mendel’s Fourth Postulate
 Independent assortment
 Unit factors (traits) assort independently during gamete formation
 All possible gamete combinations form with equal frequency
12/16=3/4 [yellow]
4/16=1/4 [green]
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III.2- Product law
 Product law
 Used to predict frequency of two independent events occurring simultaneously
 Example:
 F2 plant having yellow and round seeds
 3/4 3/4, or 9/16
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III.3- Mendel’s 9:3:3:1 Dihybrid Ratio
 F1  F1 fertilization event
 Each zygote can receive one of four combinations
 Example:
 9/16 yellow, round seeds
 3/16 yellow, wrinkled seeds
 3/16 green, round seeds
 1/16 green, wrinkled seeds
 Gives 9:3:3:1 dihybrid ratio
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III.4- Testcross: Two Characters
Testcross—Two Characters
 Genotypes unknown
 Individuals express two dominant traits
 Example: Yellow, round seed phenotype in F2 generation
 Possible genotypes: GG WW, GG Ww, Gg WW, Gg Ww
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IV- The Trihybrid Cross Demonstrates

That Mendel’s Principles Apply to
Inheritance of Multiple Traits
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IV.1- Trihybrid Cross
 Segregation and independent assortment applied to

three pairs of constraining traits
 Punnett square with 64 boxes
 Easier method:
 Use forked-line method (branch diagram)
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IV.2- Forked-line method
 based on the expected probability of occurrence of each phenotype
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IV.3- A few mathematical rules
 n=number of heterozygous genes

 AaBb x AaBb : n=2
 AaBBCc x AaBbCc : n=2 (because BB)
 Necessary rule: independent assortment

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V- Mendel’s Work Was Rediscovered in

the Early Twentieth Century
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V.1- Mendel’s Work Rediscovered
 Rediscovered in the early twentieth century

 Mendel suggested heredity resulted in discontinuous variation:
 A dominance-recessive relationship
 Darwin and Wallace subscribed to theory of continuous variation:
 Offspring were a blend of parental phenotypes
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V.2- Chromosomal Theory of Inheritance
 Chromosomal theory of inheritance

 Genetic material in living organisms contained in chromosomes
 Separation of chromosomes during meiosis served as basis for Mendel’s
principles of segregation and independent assortment
 Independent assortment:
 Leads to extensive genetic variation
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V.3- Unit Factors, Genes, and Homologous
Chromosomes
 Diploid number (2n)
 The specific number of chromosomes in each somatic cell nucleus of a diploid
species
 During the formation of gametes via meiosis
 The chromosome number is precisely halved to haploid (n)
 When two gametes combine during fertilization, the diploid number is
reestablished
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Chromosomes
 Unit factors in pairs
 First meiotic prophase
 Segregation of unit factors during gamete formation
 First meiotic anaphase
 Independent assortment of segregating unit factors
 Follows many meiotic events
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Chromosomes
 Criteria for classifying two chromosomes as homologous pairs
 Both are same size and exhibit identical centromere locations
 Excludes X and Y chromosomes in mammals
 Form pairs or synapse during stages of meiosis
 Contain identical linear order of gene loci
 One member of each pair is derived from the maternal parent and one from the
paternal parent
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VI- Independent Assortment Leads
to Extensive Genetic Variation
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 Independent assortment leads to extensive genetic variation

 Genetic variation is due to nonidentical homologous chromosomes
 Chromosome combination produces extensive genetic variation
 2n combinations
 Humans 223>8 millions of possible combinations
 Fertilization = 1 gamete/8.106 x 1 gamete/8.106 = 64.1012 possible genotypes in the
offspring >> number of humans who have ever lived on Earth
 Except for identical twins, each member of the human species is genetically unique
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VII- Laws of Probability Help to
Explain Genetic Events
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VII.1- Laws of Probability: Product Law
 Product law:
 Calculates probability of outcomes occurring together
 Example: Coin toss of penny (P) and nickel (N)
 Probabilities of heads (h) or tails (t) of each at the same time
 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
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VII.2- Laws of Probability: Sum Law
 Sum law:
 Calculates probability of outcomes independent of each other
 Example: Coin toss of penny and nickel
 Probability of tossing our penny and nickel and obtaining one head and one tail?
 Pt:Nh = 1/2 × 1/2 = 1/4
OR
 Ph:Nt = 1/2 × 1/2 = 1/4
 1/4 + 1/4 = 1/2
 NB : predictions of possible outcomes are based on large sample sizes

 The deviation from the predicted ratio in smaller sample sizes is attributed to chance
 The impact of deviation due strictly to chance diminishes as the sample size increases
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VII.3- Conditional probabilities
 Calculates the probability of an event under another event condition

 Eg. [tall] x [dwarf], probability (pc) that an F2 [tall] (=E2) be heterozygous (=E1) ?
 Conditional probability law :
 pc = P(E1)/P(E2) = ½ / ¾ = 2/3
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VII.4- The binomial theorem
 Calculates probability of alternative ways to achieve combination of events

 Eg. n children, all of the same gender? x boys et y girls? n = x + y
 Expression of the binomial theorem (a+b)n=1
 n = number of events
 a and b = probabilities of 2 possible events (b=1 – a)
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 Expansion of the formula

coefficients
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 Pascal’s triangle helps for determining the coefficients
a= p(boy)= ½ ; b= p(girl)= ½
If n=4
(a + b)4= 1a4+ 4a3b + 6a2b2 + 4ab3 + 1b4=1
p(2 boys + 2 girls)= 6a2b2

= 6.(½)2.(½)2=6. ¼ . ¼
=6/16=3/8
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 Another formula:
n!/(s!t!)
n=total number of event (eg. 4 children)
s=nb of occurrences of event a (=x)
t=nb of occurrences of event b (=y)
And n=s+t, and !=factorial (eg. 3!=3.2.1=6)
 So if in 4 children, we want to determine p(2 boys + 2 girls)

4!/(2!2!)=4.3.2 /(2.2)=24/4=6
Which has to be multiplied by axby =asbt=(1/2)2. (1/2)2=1/4.1/4=1/16
⇒6/16
 Family of 7, p(5 boys + 2 girls)= [n!/(s!t!)]asbt
=[7!/(5!.2!)].(1/2)5.(1/2)2=[7.6.5.4.3.2/5.4.3.2.2].(1/2)7=21/128
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VIII- Chi-Square Analysis Evaluates the
Influence of Chance on Genetic Data
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VIII.1- Predicting Genetic Outcomes
Two factors in analyzing or predicting genetic outcomes:

1. Independent assortment
 Subject to random fluctuations due to chance deviations
2. Sample size
 Average deviation decreases as sample size increases
 Chance deviation
 Chance events subject to random fluctuations
 Expected outcome is diminished by larger sample size
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VIII.2- Chi-Square and Null Hypothesis
 Null hypothesis
 Assumes data will fit given ratio
 Assumes there is no real difference between measured values and predicted
values
 Apparent difference attributed purely to chance
 Validity of the null hypothesis for a given set of data is measured using statistical
analysis
 Depending on the results, the null hypothesis may:
(1) be rejected or
(2) fail to be rejected
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VIII.2- Chi-Square and Null Hypothesis
 Chi-square analysis
 Evaluates influence of chance on genetic data
 Chi-square (2)
 One of the simplest statistical tests for assessing the goodness of fit of null hypothesis
 Analysis used to test how well the data fit the null hypothesis
 Analysis of observed v s. expected deviations
e rsu
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VIII.3- Chi-square calculation (χ2)
 takes into account the observed deviation in each component of a ratio

 to estimate how frequently the observed deviation can be expected to occur
strictly as a result of chance
χ2 = Σ[(o-e)2/e] = Σ(d2/e)
o = observed value for a given category
e = expected value for that category
Σ=sum of the calculated values for each category
o-e=deviation (d)
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VIII.3- Chi-square calculation (χ2)
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VIII.4- Degrees of Freedom (df)
 Degrees of freedom (df)

 Equal to n − 1
 n = number of different categories into which data points may fall (different
outcomes)
 3:1 ratio: n = 2 df = 1
 9:3:3:1 ratio: n = 4 df = 3
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VIII.5- Probability Value (p)
 When number of degrees of freedom is determined

 2 value can be interpreted in terms of a corresponding probability value (p)
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VIII.5- Probability Value (p)
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VIII.6- Interpretation
 Understanding the meaning of p value

 p=0,26 or 26% indicating that if we repeat the same experiment many times, 26% of the
trials would be expected to exhibit chance deviation ≥ that seen in the initial trial
 a null hypothesis is never proved or disproved absolutely
 Instead, a relative standard is set that we use to either reject or fail to reject the null
hypothesis
 This standard is most often a p value of 0.05 (5%)
 indicates that the observed deviation will be obtained by chance alone 5 % or more of the time
 What if p<0.05?
 reassess the assumptions that underlie the null hypothesis (segregation, independent
assortment, chance fertilization, equal viability of all offspring, etc.)
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IX- Pedigrees Reveal Patterns of

Inheritance of Human Traits
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IX.1- Pedigree
 Family tree with respect to given trait

 Pedigree analysis reveals patterns of inheritance of human traits
 For example, is it due to a dominant or recessive allele?
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IX.2- Pedigree Conventions
 Circle = female
 Square = male
 Diamond = unknown sex
 Parents connected by single horizontal line
 Offspring stem off vertical line from parent
 Double line = related parents, such as two cousins
(“consanguineous”)
 Twins
 Diagonal lines stemming from vertical line connected to the
sibship line
 Identical (monozygotic) twins
 Diagonal lines are linked by horizontal line
 Fraternal (dizygotic) twins
 Lack this connecting line
 Proband
 The individual whose phenotype first brought attention to the
family
 Is indicated by an arrow connected to the designation p
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IX.3- Pedigree examples
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IX.4- Examples of representative human traits
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X- Mutant Phenotypes Have Been
Examined at the Molecular Level
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Mendel’s wrinkled peas: molecular explanation

 SBE I: Starch-branching enzyme
 Catalyzes formation of branched starch molecules
 Wrinkled peas have mutant SBE I = no enzyme
 Osmotic pressure rises = wrinkled peas
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Tay-Sachs Disease: molecular explanation
 Recessive disorder involving unalterable destruction of the central nervous system
 Hexosaminidase A (Hex-A)
 Breaks down the ganglioside G M 2
 Tay-Sachs has mutant Hex-A = no Hex-A

 Without Hex-A gangliosides accumulate within neurons in the brain and deteriorate the nervous
system
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Chapter 3 - Mendelian Genetics

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Chapter 3 - Mendelian Genetics

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Chapter 3 Outline - Learning

Maya Hobeika Kahwagi © USEK 2023-2024

I- Mendel Used a Model Experimental

Maya Hobeika Kahwagi © USEK 2023-2024

 Mendel’s model organism: peas

Maya Hobeika Kahwagi © USEK 2023-2024

 Mendel was not appreciated during his lifetime

II- The Monohybrid Cross Reveals How

Maya Hobeika Kahwagi © USEK 2023-2024

 Monohybrid = Simplest cross - involving a single pair of contrasting traits

Maya Hobeika Kahwagi © USEK 2023-2024

 Not sex dependent

II.3- Particulate unit factors (genes)

 Basic units of heredity

Maya Hobeika Kahwagi © USEK 2023-2024

1. Unit factors exist in pairs

II.5- Modern Genetic Terminology

Maya Hobeika Kahwagi © USEK 2023-2024

 Organism inherits two alleles

II.6- Punnett Square

 Reginald C. Punnett devised this approach

Maya Hobeika Kahwagi © USEK 2023-2024

II.7- Testcross: One Character

Maya Hobeika Kahwagi © USEK 2023-2024

Maya Hobeika Kahwagi © USEK 2023-2024

III.2- Product law

Maya Hobeika Kahwagi © USEK 2023-2024

Maya Hobeika Kahwagi © USEK 2023-2024

IV- The Trihybrid Cross Demonstrates

Maya Hobeika Kahwagi © USEK 2023-2024

 Segregation and independent assortment applied to

IV.2- Forked-line method

 based on the expected probability of occurrence of each phenotype

Maya Hobeika Kahwagi © USEK 2023-2024

 n=number of heterozygous genes

 Necessary rule: independent assortment

V- Mendel’s Work Was Rediscovered in

Maya Hobeika Kahwagi © USEK 2023-2024

 Rediscovered in the early twentieth century

V.2- Chromosomal Theory of Inheritance

 Chromosomal theory of inheritance

Maya Hobeika Kahwagi © USEK 2023-2024

V.3- Unit Factors, Genes, and Homologous

Maya Hobeika Kahwagi © USEK 2023-2024

V.3- Unit Factors, Genes, and Homologous

Maya Hobeika Kahwagi © USEK 2023-2024

 Independent assortment leads to extensive genetic variation

Maya Hobeika Kahwagi © USEK 2023-2024

VII.1- Laws of Probability: Product Law

Maya Hobeika Kahwagi © USEK 2023-2024

 NB : predictions of possible outcomes are based on large sample sizes

VII.3- Conditional probabilities

 Calculates the probability of an event under another event condition

Maya Hobeika Kahwagi © USEK 2023-2024

 Calculates probability of alternative ways to achieve combination of events

VII.4- The binomial theorem

 Expansion of the formula

Maya Hobeika Kahwagi © USEK 2023-2024

 Pascal’s triangle helps for determining the coefficients

p(2 boys + 2 girls)= 6a2b2

VII.4- The binomial theorem

 So if in 4 children, we want to determine p(2 boys + 2 girls)

Maya Hobeika Kahwagi © USEK 2023-2024