Podcast
Questions and Answers
What does a cancer predisposition syndrome imply?
What does a cancer predisposition syndrome imply?
- A certain prevention mechanism against cancer.
- A heightened risk of developing cancer influenced by multiple factors. (correct)
- Inheriting the guaranteed ability to develop cancer.
- A direct cause of cancer without any external influences.
How do polygenic traits typically manifest?
How do polygenic traits typically manifest?
- Through a single genetic mutation.
- As immediate changes in phenotype with no external influences.
- Due to environmental factors alone.
- Via the cumulative effect of many subtle genetic changes. (correct)
What happens when multiple changes in a pathway exhibit small increases in activity?
What happens when multiple changes in a pathway exhibit small increases in activity?
- There is no overall change in the pathway's activity.
- This results in a decrease in pathway efficiency.
- The changes can lead to a drastic increase in overall activity. (correct)
- It leads to a complete blockage of the pathway.
What is indicated by the term 'hyperplasia' in the context of growth factor signaling?
What is indicated by the term 'hyperplasia' in the context of growth factor signaling?
What role do external factors play in genetic predisposition to conditions?
What role do external factors play in genetic predisposition to conditions?
What does the somatic mutation theory of cancer suggest about changes in activity?
What does the somatic mutation theory of cancer suggest about changes in activity?
How does the location of two linked genes affect their inheritance?
How does the location of two linked genes affect their inheritance?
What is indicated by a change in both genes A and B regarding phenotype expression?
What is indicated by a change in both genes A and B regarding phenotype expression?
What factor is NOT part of the complex diseases framework?
What factor is NOT part of the complex diseases framework?
Why is the brain considered to be in a different environment than the liver?
Why is the brain considered to be in a different environment than the liver?
What indicates a dominant trait when analyzing a pedigree?
What indicates a dominant trait when analyzing a pedigree?
What is a common characteristic of recessive conditions when linked to sex chromosomes?
What is a common characteristic of recessive conditions when linked to sex chromosomes?
What could a pedigree with unaffected parents producing an affected child suggest?
What could a pedigree with unaffected parents producing an affected child suggest?
Which factor is crucial when determining the patterns of inheritance in a pedigree analysis?
Which factor is crucial when determining the patterns of inheritance in a pedigree analysis?
What might signify that a condition is recessive based on a pedigree observation?
What might signify that a condition is recessive based on a pedigree observation?
What is the outcome when there is incomplete dominance in a genetic interaction?
What is the outcome when there is incomplete dominance in a genetic interaction?
Which term describes a genetic interaction where both alleles are fully expressed without blending?
Which term describes a genetic interaction where both alleles are fully expressed without blending?
In human blood groups, what characteristic distinguishes the A and B blood types from O type?
In human blood groups, what characteristic distinguishes the A and B blood types from O type?
What is the expected phenotypic outcome when two genes interact in a Mendelian situation?
What is the expected phenotypic outcome when two genes interact in a Mendelian situation?
How do polygenic traits, such as human height, typically manifest in terms of phenotypic variation?
How do polygenic traits, such as human height, typically manifest in terms of phenotypic variation?
What is the term used to describe the degree to which a trait can be observed in a phenotype?
What is the term used to describe the degree to which a trait can be observed in a phenotype?
What genetic concept refers to the masking of one allele's phenotypic expression by another allele?
What genetic concept refers to the masking of one allele's phenotypic expression by another allele?
Which of these ratios is typically associated with the classic Mendelian dihybrid cross showing complete dominance?
Which of these ratios is typically associated with the classic Mendelian dihybrid cross showing complete dominance?
How can an organism with only one necessary gene for a disease phenotype potentially present?
How can an organism with only one necessary gene for a disease phenotype potentially present?
Which of the following describes the variability in phenotypic expression despite having the same genotype?
Which of the following describes the variability in phenotypic expression despite having the same genotype?
What is indicated by the term 'qualitative trait' in genetics?
What is indicated by the term 'qualitative trait' in genetics?
What is the primary reason for changing the order of topics in the lecture?
What is the primary reason for changing the order of topics in the lecture?
How does the concept of 'monogenic trait' apply to human genetics according to the lecture?
How does the concept of 'monogenic trait' apply to human genetics according to the lecture?
What does the phrase 'interactive genetic material' imply in the context of genetic traits?
What does the phrase 'interactive genetic material' imply in the context of genetic traits?
Which of the following describes the primary focus of the new lecture structure?
Which of the following describes the primary focus of the new lecture structure?
What characterizes a trait that exhibits incomplete dominance?
What characterizes a trait that exhibits incomplete dominance?
Which of the following best describes codominance in genetics?
Which of the following best describes codominance in genetics?
What is the term for traits that result from the interactions of multiple genes?
What is the term for traits that result from the interactions of multiple genes?
Which statement about multiple alleles is true?
Which statement about multiple alleles is true?
How does the number of genes involved in a trait affect phenotypic variation?
How does the number of genes involved in a trait affect phenotypic variation?
What does variable expressivity refer to in genetics?
What does variable expressivity refer to in genetics?
Which of the following correctly describes incomplete penetrance?
Which of the following correctly describes incomplete penetrance?
Which ratio indicates that a dominant allele of one gene masks the phenotype of a different gene in a dihybrid cross?
Which ratio indicates that a dominant allele of one gene masks the phenotype of a different gene in a dihybrid cross?
How does phenotypic plasticity relate to environmental factors?
How does phenotypic plasticity relate to environmental factors?
In pedigree analysis, what is the role of first-degree relatives?
In pedigree analysis, what is the role of first-degree relatives?
What is a characteristic feature of autosomal dominant conditions?
What is a characteristic feature of autosomal dominant conditions?
Which statement about carriers of monogenic diseases is accurate?
Which statement about carriers of monogenic diseases is accurate?
What is a potential outcome for individuals affected by Huntington's disease?
What is a potential outcome for individuals affected by Huntington's disease?
How do recessive traits appear in the context of consanguinity?
How do recessive traits appear in the context of consanguinity?
Which of the following accurately describes the manifestation of dominant genetic traits?
Which of the following accurately describes the manifestation of dominant genetic traits?
Flashcards
Complex traits
Complex traits
Conditions caused by multiple small changes affecting gene expression levels and interactions, rather than a single large change.
Cancer Predisposition
Cancer Predisposition
Inheriting a risk for cancer, not a guaranteed development of cancer.
Polygenic trait
Polygenic trait
Traits influenced by many genes, each contributing slightly to the overall phenotype.
Metabolic pathway
Metabolic pathway
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Growth factor signaling
Growth factor signaling
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Pathway changes
Pathway changes
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Hyperplasia
Hyperplasia
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Dominant Inheritance Pattern
Dominant Inheritance Pattern
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Synergistic effect
Synergistic effect
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Recessive Inheritance Pattern
Recessive Inheritance Pattern
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Somatic mutation theory of cancer
Somatic mutation theory of cancer
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Linked Genes
Linked Genes
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Pedigree Analysis
Pedigree Analysis
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Complex Disease
Complex Disease
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Sex-linked Inheritance
Sex-linked Inheritance
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Hemophilia
Hemophilia
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Environmental Factors (in Biology)
Environmental Factors (in Biology)
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Different Cellular Environments
Different Cellular Environments
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Carrier
Carrier
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Heterozygous Carrier
Heterozygous Carrier
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Key Pedigree Analysis Indications
Key Pedigree Analysis Indications
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Multifactorial Traits
Multifactorial Traits
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Monogenic trait
Monogenic trait
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Qualitative trait
Qualitative trait
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Quantitative trait
Quantitative trait
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Mendelian inheritance
Mendelian inheritance
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Human traits & inheritance
Human traits & inheritance
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Incomplete Dominance
Incomplete Dominance
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Co-dominance
Co-dominance
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Mendelian Inheritance (quantitative traits)
Mendelian Inheritance (quantitative traits)
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Multiple Genes
Multiple Genes
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Blood Types (genetics)
Blood Types (genetics)
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Single Gene Inheritance vs Multiple Genes
Single Gene Inheritance vs Multiple Genes
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Expressivity
Expressivity
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Penetrance
Penetrance
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Epistasis
Epistasis
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Phenotype
Phenotype
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Genotype
Genotype
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Dihybrid Cross
Dihybrid Cross
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Complete Dominance
Complete Dominance
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9:3:3:1 ratio
9:3:3:1 ratio
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9:7 ratio
9:7 ratio
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12:3:1 ratio
12:3:1 ratio
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Qualitative Trait
Qualitative Trait
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Quantitative Trait
Quantitative Trait
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Incomplete Dominance
Incomplete Dominance
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Codominance
Codominance
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Penetrance
Penetrance
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Expressivity
Expressivity
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Epistasis
Epistasis
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Pedigree
Pedigree
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First-degree relative
First-degree relative
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Second-degree relative
Second-degree relative
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Consanguinity
Consanguinity
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Multiple Alleles
Multiple Alleles
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Autosomal Dominant
Autosomal Dominant
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Huntington's Disease
Huntington's Disease
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Monogenic disease
Monogenic disease
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Selective pressure
Selective pressure
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Carrier
Carrier
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Consanguinity
Consanguinity
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Incomplete Dominance
Incomplete Dominance
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Functional Consequences of Genes
Functional Consequences of Genes
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Gene Dosage
Gene Dosage
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Genotype Carrier
Genotype Carrier
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Variable Expressivity
Variable Expressivity
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Incomplete Penetrance
Incomplete Penetrance
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Epistasis
Epistasis
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Epistatic Ratio (9:7)
Epistatic Ratio (9:7)
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Epistatic Ratio (12:3:1)
Epistatic Ratio (12:3:1)
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Epistatic Ratio (9:3:4)
Epistatic Ratio (9:3:4)
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Phenotypic Plasticity
Phenotypic Plasticity
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Pedigree Analysis
Pedigree Analysis
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First-degree relatives
First-degree relatives
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Second-degree relatives
Second-degree relatives
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Third-degree relatives
Third-degree relatives
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Study Notes
X-Linked Dominance
- Summary of session materials for X-linked dominance; aims to be concise and avoid extraneous information.
- Research day encouraged for students; this helps with capstone projects and allows for viewing the work of others.
- Quizzes reopened for one last review; due by 8 PM the next day.
Pedigree Analysis
- Pedigree analysis focuses on comparing parents and children, particularly mothers to sons and fathers to daughters, to identify dominant or recessive patterns.
- Males affected with a dominant condition typically lead to affected female children.
- Recessive conditions often show a clearer distinction between male and female carriers.
- Pedigree analysis can determine the nature of a trait (dominant, recessive) and determine whether it is X-linked.
Hemophilia Example
- Hemophilia is used as an example of a recessive condition.
- Males are typically affected more often when the trait is recessive and X-linked.
- Pedigrees can show patterns of X-linked recessive conditions. A characteristic of a recessive condition is the affected individual having unaffected parents.
Complex Traits
- Many diseases are not caused by a single gene but by many interacting genes and environmental factors.
- Cancer is a prominent example of a complex trait with multiple genetic and environmental factors involved.
- Changes in gene activity can have a significant effect on a trait.
- Multiple changes to genes in a pathway increase the likelihood of a disease.
Environmental Factors
- Environment includes lifestyle, genetic interactions, and the biochemical environment of cells.
- Lifestyle choices influence biochemical environments.
- The environment plays a crucial role in complex diseases.
De Novo Mutations
- Mutations can happen in a single generation, which are not present in the family history (this is often called a de novo mutation).
- De novo mutations affect individual cells in different ways.
Polygenic Traits
- Many traits are influenced by multiple genes and environmental factors.
- These complex traits have a wide range of outcomes.
- Risk depends on many interacting genes and environmental factors.
Microarrays and Sequencing
- Advances in microarray and sequencing technologies allow for comprehensive study of gene variants associated with diseases such as cancer, aiding diagnosis and treatment.
- Analyzing gene variants in tumors allows for more comprehensive studies of gene expression and diagnosis.
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