BIOL 211 General Genetics

FALL 2024

Mendelian Genetics II

Muhammad Farooq Rai, PhD

Assistant Professor
Biological Sciences, Khalifa University
 Mendelian Genetics II ku.ac.ae

Learning objectives
1. Laws of probability and genetic events
2. Chi-square analysis on genetic data
3. Pedigrees and patterns of inheritance of human traits
4. Molecular level of mutant phenotypes

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Independent assortment leads to genetic variation

• Genetic variation is due to nonidentical homologous chromosomes
• Maternal and paternal chromosomes are distributed independently

• Chromosome combination produces extensive genetic variation

o Possible combinations: 223 = over 8 million possible gametes

o Fertilization: Each offspring is one of (8 x 106)2 = 64 x 1012 potential genetic
combinations
• Genetic variation is crucial for evolution in sexually reproducing organisms

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Laws of probability help explain genetic events

• Independent assortment: genes are passed on independently of each other

• The probability laws help predict the likelihood of different combinations of genes
appearing in offspring
• Example: If a parent has one dominant and one recessive allele for a trait, the
probability of passing on either allele is 50%

• The laws of probability explain why there is variation (random fluctuations) in

genetic traits due to random assortment and mutation
• Example: Even with the same genetic makeup, siblings can have different traits
because of the random way genes are assorted and combined

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Calculating probabilities of traits

• Punnett squares: These tools use probability to show all possible combinations of
alleles from the parents and predict the likelihood of each combination

o Example: If both parents are heterozygous (Aa) for a trait, the probability of
their child being homozygous recessive (aa) is 25%

• Chi-Square analysis: This statistical method uses probability to determine if the

observed genetic data fits the expected outcomes

o Example: If you expect a 3:1 ratio of dominant to recessive traits in offspring,

chi-square analysis can help confirm if your observed data matches this
expectation or if deviations are due to chance

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Probability is related to genetics

• Genetic ratios (e.g., 3/4 tall:1/4 dwarf) are probabilities
• These ratios predict the outcome of each fertilization event
o The probability of a zygote becoming tall: 3/4
o The probability of a zygote becoming a dwarf: 1/4

• Probabilities range from 0.0 to 1.0

o 0.0 = event will not occur
o 1.0 = event will certainly occur

• When independent events with known probabilities co-occur, we can calculate the
probability of their combined outcomes
o Product rule
o Sum rule
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 Mendelian Genetics II ku.ac.ae

Laws of probability help explain genetic events

• *Product rule calculates the probability of outcomes occurring together

• Example: Coin toss of a penny (P) and a nickel (N)

• Probabilities of heads (h) and 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

*the probability of two or more independent events occurring

simultaneously = the product of their individual probabilities
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What is the probability that event 1 AND event 2 will

occur?

• P(1 AND 2) = probability of event 1 × probability of event 2

• The formation of egg and sperm are independent events

• In a hybrid plant (Yy), the probability is 1/2 that a given gamete will carry Y and
1/2 that it will carry y

• Thus, to find the chance of a Y egg uniting with a Y sperm, you simply multiply 1/2
× 1/2 to get 1/4

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 Mendelian Genetics II ku.ac.ae

Laws of probability help explain genetic events

• *Sum rule calculates the probability of outcomes independent of each other

• Example: Coin toss of P and N

What is the probability of tossing pennies and nickels and obtaining one head or
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

*the probability of obtaining any single outcome, where that outcome

can be achieved by two or more events = the sum of the individual
probabilities of all such events 9
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•What is the probability that event 1 OR event 2 will

occur?

• P(1 OR 2) = probability of event 1 + probability of event 2

• Two different fertilization events are mutually exclusive. For instance, if Y
combines with Y, it cannot also combine with y in the same zygote

• To find the likelihood that an offspring of a Yy hybrid self-fertilization will be a

hybrid like the parents:

o 1/4 (the probability of maternal Y uniting with paternal y) and 1/4 (the
probability of the mutually exclusive event where paternal Y unites with
maternal y) ¼ + ¼ = 1/2

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Impact of sample size

• Accuracy of predictions: Larger sample sizes reduce the impact of random chance
and provide more accurate predictions of genetic outcomes
• Example: Studying a large population can give a clearer picture of how a trait is
inherited compared to a small group
• To know the results of a cross, calculate the probability of each possible outcome
• This calculation predicts the proportion of offspring expressing each phenotype or
genotype
• Predictions are based on large sample sizes
• In small samples, exact ratios (e.g., 9/16) are unlikely; predictions are approximate
for large numbers of offspring
• Deviation from predicted ratios in small samples is due to chance
• The impact of chance diminishes as sample size increases

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Chance deviation
• Mendel’s 3:1 monohybrid and 9:3:3:1 dihybrid ratios are hypothetical predictions
• Assumptions for these ratios
o Each allele is dominant or recessive
o Segregation is unimpeded
o Independent assortment occurs
o Fertilization is random
• Last two assumptions are influenced by chance events and subject to random
fluctuation
• Chance deviation illustrated by coin tosses:
o Probability of heads or tails in each toss is 1/2
o Expected ratio for many tosses is 1:1
o Fluctuations from this ratio (e.g., 486 heads and 514 tails) are due to chance
• Impact of chance deviation increases with fewer tosses
• Large sample sizes reduce the impact of chance deviation 12
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Chi-square and null hypothesis

• Chi-square (c 2)
o evaluates influence of chance on genetic data
o Analysis of observed vs. expected deviations

• Null hypothesis
o Assumes there is no real difference between measured values and predicted
values
o Apparent difference attributed purely to chance

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Chi square analysis

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Chi square analysis

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Pedigree
• Pedigree is an orderly diagram of a family’s
relevant genetic features
• Family tree with respect to given trait
• Pedigree analysis reveals patterns of inheritance
of human traits
• Includes as many generations as possible
(ideally, at least both sets of grandparents of an
affected person)
• Example: is a trait due to a dominant or
recessive allele?

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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”)
• Diagonal lines stemming from vertical line
connected to the sibship line = twins
• Diagonal lines are linked by horizontal line =
monozygotic twins
• Arrow connected to the designation p =
proband (individual whose phenotype first
brought attention to the family) 17
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Pedigree conventions

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Pedigree for autosomal recessive disorder

• Child can be affected when neither parent is affected
• Heterozygous parents are carriers
• Parents can be tested before having children

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Pedigrees for autosomal dominant disorders

• Child can be unaffected even when parents are heterozygous and therefore affected
• When both parents are unaffected, none of their children will have the condition
• No dominant gene to pass on

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Pedigrees for autosomal recessive and dominant disorders

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Mutant phenotypes examined at molecular level

• Mendel’s wrinkled peas
o The R allele encodes a starch-branching enzyme (Sbe I)
§ catalyzes the formation of branched starch molecules

o The r allele does not make Sbe1 (mutant)*

§ sucrose and unbranched starch build-up > impairs osmotic pressure > more
water enters the young seed > loss of water as the seed matures > leading to
shrunk and wrinkled peas

*the mutant SBE I gene has 800 base pairs of foreign sequence
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Mutant phenotypes examined at molecular level

• Mendel’s yellow and green peas
o The Y allele encodes a stay-green enzyme (Sgr)
§ helps break down chlorophyll

o The y allele does not make Sgr

§ chlorophyll is not broken down and peas remains green

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