Video 1 Module Videos
Genetic Inheritance Mendelian Genetics Genetic Linkage
Genetic Principles
Inheritance Patterns
1. Mendelian Genetics
• Founded by Gregor Mendel in the 19th century
• He observed hereditary patterns in pea plants
2. Genotype vs. Phenotype Phenotypes Normal wings Normal wings Normal wings Wrinkled wings
• Genotype: makeup (e.g., genes/alleles for hair color,
enzyme activity)
• Phenotype: manifestation of genetic traits (e.g., red
hair, pea shape, enzyme activity) W W W W W W W W
Genotypes Homozygous Heterozygous Homozygous
3. Genes and Alleles
• : DNA sequence coding for a protein
• : specific location on a chromosome
• : variation in a gene sequence
• Humans usually have two alleles per gene, one maternal and
one paternal
4. Dominant and Recessive Alleles
• allele: masks recessive allele (denoted with a
capital letter)
• allele: expressed only if there’s no allele
(denoted with a lowercase letter)
• : two copies of the same allele
• : two different alleles (can be carriers of
recessive traits)
• : one allele present (e.g., sex-linked traits in
males)
Video 1 - Mendellan Genetics • 1
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Video 1 Module Videos
Genetic Inheritance Mendelian Genetics Genetic Linkage
Genetic Principles
Inheritance Patterns
5. Wild-type vs. Mutant Alleles
• - : default or common allele in a population
• : altered version of a gene
• Notation: mutant alleles (lowercase), wild-type (+superscript in
Drosophila)
• Loss-of-function mutations: usually
• Gain-of-function mutations: usually
6. Mendel’s Experiments
• Crossed homozygous dominant round peas (RR) with
homozygous recessive wrinkled peas (rr)
• F1 generation: all (Rr) with the round shape
• F2 generation (F1 self-crossing): genotypic ratio 1:2:1,
phenotypic ratio 3:1 round to wrinkled
7. Test Crosses
• Determines genotype (RR vs. Rr) of an organism with the
dominant phenotype
• Cross the organism with homozygous (rr) mate
• Results indicate based on offspring’s
8. Dihybrid Crosses
• Examines two traits simultaneously (e.g., pea shape Rr and
pea color Yy)
• F1 cross between two heterozygotes yields a 9:3:3:1
phenotypic ratio
• Assumes the genes for the traits assort (not
linked)
Video 1 - Mendellan Genetics • 2
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Video 1 Module Videos
Genetic Inheritance Mendelian Genetics Genetic Linkage
Genetic Principles
Inheritance Patterns
Concept Synthesis:
How can a dominant allele mask the presence of a recessive allele in an organism’s phenotype?
Under what circumstances might a loss-of-function mutation not be recessive, and why?
How does a test cross help determine the genotype of an organism displaying a dominant phenotype?
Video 1 - Mendellan Genetics • 3
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Video 2 Module Videos
Genetic Inheritance Mendelian Genetics Genetic Linkage
Genetic Principles
Inheritance Patterns
1. Exceptions to Mendelian Genetics
• Codominance
• Both alleles expressed
• Example: ABO blood types (both A and B antigens can be
expressed simultaneously)
• Incomplete Dominance
• Blended
• Example: Snapdragon flowers (red, white, pink)
2. Genetic Penetrance and Expressivity
• Penetrance
• Probability genotype leads to corresponding phenotype
• Example: A BRCA1 mutation has 80% penetrance for
breast cancer
• Expressivity
• Variation of intensity in a phenotype
• Example: Variable ejection fractions in heart failure
• Complex Traits
• Result of multiple genes and
• Include body shape, height, metabolism, etc.
• Typically not as clear-cut as Mendelian traits
Video 2 - Genetic Principles • 4
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Video 2 Module Videos
Genetic Inheritance Mendelian Genetics Genetic Linkage
Genetic Principles
Inheritance Patterns
Concept Synthesis:
Which factors may influence penetrance and expressivity?
Explain how the knowledge of codominance and incomplete dominance changes how we view an
organism’s predicted phenotype based on genotypes.
Explain how complex traits in humans illustrate the limitation of Mendelian genetics as a comprehensive
model.
Video 2 - Genetic Principles • 5
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Video 3 Module Videos
Genetic Inheritance Mendelian Genetics Genetic Linkage
Genetic Principles
Inheritance Patterns
1. Genetics and Inheritance Patterns
• Queen Victoria and Hemophilia: A case of X-linked recessive
inheritance leading to a bleeding disorder prevalent in her
male descendants.
2. Patterns of Genetic Inheritance
• : The trait appears in every generation;
an affected individual has at least one affected parent.
• : The trait can skip generations; affected
individuals can have unaffected parents who are .
• - : More common in males; males express
the phenotype, with one copy of the allele on their
X chromosome.
3. Pedigree Analysis
• represented as squares, as circles.
• symbols indicate individuals with the trait or
condition.
• Autosomal traits affect both sexes ; sex-linked traits
show sex bias.
Video 3 - Inheritance Patterns • 6
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Video 3 Module Videos
Genetic Inheritance Mendelian Genetics Genetic Linkage
Genetic Principles
Inheritance Patterns
4. Sex-Linked Inheritance
• Most sex-linked disorders are - , due to the higher
gene-carrying capacity of the chromosome.
• Sex-linked recessive disorders are much more common in
.
• Males inherit X-linked conditions from their , not their
.
5. Interpreting Pedigrees
• Skipped generations suggest a trait; non-skipped
generations suggest a trait.
• Sex asymmetry in affected individuals suggests an X-linked
trait.
• Application of genetic principles aids in solving inheritance
pattern questions.
Video 3 - Inheritance Patterns • 7
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Video 3 Module Videos
Genetic Inheritance Mendelian Genetics Genetic Linkage
Genetic Principles
Inheritance Patterns
Concept Synthesis:
How would you use pedigree analysis to determine if a disease is autosomal dominant, autosomal
recessive, or X-linked recessive?
In the context of X-linked disorders, how can a male not show the disorder while his son does?
What clues within a pedigree would lead you to think a trait might be X-linked recessive versus autosomal
recessive?
Video 3 - Inheritance Patterns • 8
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Video 4 Module Videos
Genetic Inheritance Mendelian Genetics Genetic Linkage
Genetic Principles
Inheritance Patterns
1. Mendelian Genetics and Genetic Linkage
• Mendel’s Three Laws: Segregation, Independent Assortment,
and Dominance.
2. Law of Segregation
• Each allele for a trait segregates into gametes, ensuring
offspring inherits one allele from .
• Occurs during ; gametes receive one allele for each
.
3. Law of Independent Assortment
• Alleles for traits are inherited of one
another.
• This law applies when genes are on chromosomes
or far apart on the same chromosome.
4. Law of Dominance
• alleles mask ones, establishing
observable traits.
• Variations include complete dominance, codominance, and
incomplete dominance.
Video 4 - Genetic Linkage • 9
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Video 4 Module Videos
Genetic Inheritance Mendelian Genetics Genetic Linkage
Genetic Principles
Inheritance Patterns
5. Chromosomal Basis of Mendel’s Laws
• Chromosomes carry , explaining the behavior of
during gamete formation.
• causes segregation and independent assortment of
chromosomes.
6. Genetic Linkage
• Genes located closely on the same chromosome tend to be
inherited together due to .
• Genetic linkage violates Mendel’s law of
for genes close together on the same
chromosome.
7. Recombination (Crossing Over) A a
b B
• Recombination occurs during and mixes parents’
genetic material, creating new allele combinations.
• (crossing over points) can separate linked genes
and increase genetic .
a A
b B
Recombinants
Video 4 - Genetic Linkage • 10
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Video 4 Module Videos
Genetic Inheritance Mendelian Genetics Genetic Linkage
Genetic Principles
Inheritance Patterns
8. Genetic Linkage Maps
• Linkage maps track gene locations; distance related to
recombination frequency.
• Measured in centimorgans; 1 centimorgan indicates a 1%
recombination frequency.
9. Genetic Linkage Maps
• Deviations from Mendelian ratios in genetic crosses indicate
.
• Linked genes have joint segregation patterns, often revealed
in experiments.
10. Recombination Frequency Limits
• Recombination frequency maxes out at 50%, treated as
(genes behave independently).
• Multiple crossovers can occur, affecting observed
recombination frequencies.
11. Importance of Genetic Diversity
• Genetic exchange during contributes to
in offspring.
• Diversity is beneficial for populations’ adaptability and
evolution.
Video 4 - Genetic Linkage • 11
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Video 4 Module Videos
Genetic Inheritance Mendelian Genetics Genetic Linkage
Genetic Principles
Inheritance Patterns
Concept Synthesis:
How do genetic linkage and recombination frequency predict the likelihood of genes being inherited
together?
Explain how crossing over during meiosis contributes to genetic diversity.
Video 4 - Genetic Linkage • 12
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Answer Key Module Videos
Genetic Inheritance Mendelian Genetics Genetic Linkage
Genetic Principles
Inheritance Patterns
Video 1 • Video 2
Mendelian Genetics • Exceptions to Mendelian
• • Independently Genetics
• • Codominance
• Simultaneously
Genotype vs. Phenotype •
• Genetic • Incomplete Dominance
• Physical • Phenotypes
•
Genes and Alleles
• Gene Genetic Penetrance and
• Locus Expressivity
• Allele • Penetrance
• •
•
Dominant and Recessive Alleles • Expressivity
• Dominant •
• Recessive; dominant •
• Homozygous • Complex Traits
• Heterozygous • Environmental factors
• Hemizygous •
•
Wild-type vs. Mutant Alleles
• Wild-type
• Mutant
•
• Recessive
• Dominant
Mendel’s Experiments
•
• Heterozygous
•
Test Crosses
•
• Recessive
• Genotype; phenotype
Dihybrid Crosses
Answer Key - Genetic Inheritance • 13
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Answer Key Module Videos
Genetic Inheritance Mendelian Genetics Genetic Linkage
Genetic Principles
Inheritance Patterns
Video 3 Video 4 • Unlinked
Genetics and Inheritance Mendelian Genetics and Genetic •
Patterns Linkage
• • Importance of Genetic Diversity
• Crossing over; diversity
Patterns of Genetic Inheritance Law of Segregation •
• Autosomal Dominant • Each parent
• Autosomal Recessive; • Meiosis; gene
carriers
• X-Linked Recessive; Law of Independent Assortment
recessive • Separate; independently
• Different
Pedigree Analysis
• Males; females Law of Dominance
• Shaded • Dominant; recessive
• Equally; sex •
Sex-Linked Inheritance Chromosomal Basis of Mendel’s
• X-linked; X Laws
• Males • Genes; alleles
• Mothers; fathers • Meiosis
•
Interpreting Pedigrees
• Recessive; dominant Genetic Linkage
• Recessive • Linkage
• • Independent assortment
Recombination (Crossing Over)
• Prophase I
• Chiasmata; diversity
Genetic Linkage Maps
• Locations; recombination
•
Detecting Genetic Linkage
• Linkage
• Cross
Recombination Frequency Limits
Answer Key - Genetic Inheritance • 14
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