(4.1) ADDITIONAL INHERITANCE PATTERNS & PEDIGREE ANALYSIS

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Questions and Answers

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?

  • 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?

  • 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?

<p>An increase in cell production prompted by an active growth pathway. (A)</p> Signup and view all the answers

What role do external factors play in genetic predisposition to conditions?

<p>They can influence the expression of inherited genetic risks. (A)</p> Signup and view all the answers

What does the somatic mutation theory of cancer suggest about changes in activity?

<p>Small changes can have a synergistic combined effect. (A)</p> Signup and view all the answers

How does the location of two linked genes affect their inheritance?

<p>Linked genes on the same chromosome are inherited more frequently. (D)</p> Signup and view all the answers

What is indicated by a change in both genes A and B regarding phenotype expression?

<p>Change in A and B is necessary to express a specific phenotype. (D)</p> Signup and view all the answers

What factor is NOT part of the complex diseases framework?

<p>Random mutations alone (D)</p> Signup and view all the answers

Why is the brain considered to be in a different environment than the liver?

<p>There is a barrier that separates their biochemical interactions. (D)</p> Signup and view all the answers

What indicates a dominant trait when analyzing a pedigree?

<p>Every generation has affected individuals (C)</p> Signup and view all the answers

What is a common characteristic of recessive conditions when linked to sex chromosomes?

<p>All affected individuals are male (D)</p> Signup and view all the answers

What could a pedigree with unaffected parents producing an affected child suggest?

<p>Both parents are heterozygous carriers (D)</p> Signup and view all the answers

Which factor is crucial when determining the patterns of inheritance in a pedigree analysis?

<p>Environmental influences and genetic interactions (A)</p> Signup and view all the answers

What might signify that a condition is recessive based on a pedigree observation?

<p>Presence of unaffected couples with affected offspring (B)</p> Signup and view all the answers

What is the outcome when there is incomplete dominance in a genetic interaction?

<p>An intermediate phenotype is observed (B)</p> Signup and view all the answers

Which term describes a genetic interaction where both alleles are fully expressed without blending?

<p>Co-dominance (B)</p> Signup and view all the answers

In human blood groups, what characteristic distinguishes the A and B blood types from O type?

<p>They produce distinct surface antigens (C)</p> Signup and view all the answers

What is the expected phenotypic outcome when two genes interact in a Mendelian situation?

<p>Variation increases with the number of genes (B)</p> Signup and view all the answers

How do polygenic traits, such as human height, typically manifest in terms of phenotypic variation?

<p>As a range of phenotypic outcomes (C)</p> Signup and view all the answers

What is the term used to describe the degree to which a trait can be observed in a phenotype?

<p>Expressivity (B)</p> Signup and view all the answers

What genetic concept refers to the masking of one allele's phenotypic expression by another allele?

<p>Epistasis (B)</p> Signup and view all the answers

Which of these ratios is typically associated with the classic Mendelian dihybrid cross showing complete dominance?

<p>9:3:3:1 (B)</p> Signup and view all the answers

How can an organism with only one necessary gene for a disease phenotype potentially present?

<p>With a mild form of the disorder (D)</p> Signup and view all the answers

Which of the following describes the variability in phenotypic expression despite having the same genotype?

<p>Expressivity (A)</p> Signup and view all the answers

What is indicated by the term 'qualitative trait' in genetics?

<p>It is a trait that can have multiple loci affecting its expression. (C)</p> Signup and view all the answers

What is the primary reason for changing the order of topics in the lecture?

<p>To prevent difficult content from being covered on asynchronous days. (B)</p> Signup and view all the answers

How does the concept of 'monogenic trait' apply to human genetics according to the lecture?

<p>Human traits do not exhibit simple Mendelian inheritance patterns. (A)</p> Signup and view all the answers

What does the phrase 'interactive genetic material' imply in the context of genetic traits?

<p>Genetic materials engage and influence each other in trait expression. (D)</p> Signup and view all the answers

Which of the following describes the primary focus of the new lecture structure?

<p>Highlighting the complexity of human genetics over simplicity. (A)</p> Signup and view all the answers

What characterizes a trait that exhibits incomplete dominance?

<p>The phenotype of the heterozygous genotype is intermediate between the homozygous phenotypes. (B)</p> Signup and view all the answers

Which of the following best describes codominance in genetics?

<p>Both alleles are fully expressed in the heterozygote without blending. (A)</p> Signup and view all the answers

What is the term for traits that result from the interactions of multiple genes?

<p>Quantitative traits (B)</p> Signup and view all the answers

Which statement about multiple alleles is true?

<p>More than two alleles for a gene can be present within a population. (B)</p> Signup and view all the answers

How does the number of genes involved in a trait affect phenotypic variation?

<p>It increases the potential number of phenotypes. (D)</p> Signup and view all the answers

What does variable expressivity refer to in genetics?

<p>The degree to which a gene is expressed, varying among individuals. (D)</p> Signup and view all the answers

Which of the following correctly describes incomplete penetrance?

<p>The failure of a genotype to express any phenotype. (A)</p> Signup and view all the answers

Which ratio indicates that a dominant allele of one gene masks the phenotype of a different gene in a dihybrid cross?

<p>12:3:1 (A)</p> Signup and view all the answers

How does phenotypic plasticity relate to environmental factors?

<p>It refers to the ability of a single genotype to produce various phenotypes based on environmental conditions. (D)</p> Signup and view all the answers

In pedigree analysis, what is the role of first-degree relatives?

<p>They often have a 50% genetic similarity and are key to understanding inheritance patterns. (A)</p> Signup and view all the answers

What is a characteristic feature of autosomal dominant conditions?

<p>The trait appears in all generations of a pedigree. (D)</p> Signup and view all the answers

Which statement about carriers of monogenic diseases is accurate?

<p>Carriers can pass on the trait without displaying the phenotype. (B)</p> Signup and view all the answers

What is a potential outcome for individuals affected by Huntington's disease?

<p>They may experience severe cognitive decline starting in mid-life. (B)</p> Signup and view all the answers

How do recessive traits appear in the context of consanguinity?

<p>Increased opportunities for observation of recessive traits exist. (A)</p> Signup and view all the answers

Which of the following accurately describes the manifestation of dominant genetic traits?

<p>They generally appear equally in both sexes when autosomal. (C)</p> Signup and view all the answers

Flashcards

Complex traits

Conditions caused by multiple small changes affecting gene expression levels and interactions, rather than a single large change.

Cancer Predisposition

Inheriting a risk for cancer, not a guaranteed development of cancer.

Polygenic trait

Traits influenced by many genes, each contributing slightly to the overall phenotype.

Metabolic pathway

A series of chemical reactions in a cell catalysed by enzymes, where the product of one step is the substrate for the next.

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Growth factor signaling

A cellular process that regulates cell growth, a specific example of a metabolic pathway.

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Pathway changes

Slight increases or decreases in the activity of components in a metabolic pathway, which, if repeated in many steps, can lead to significant outcomes.

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Hyperplasia

The enlargement of an organ or tissue caused by an increase in the number of cells.

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Dominant Inheritance Pattern

A pattern of inheritance where the presence of one copy of a dominant allele (gene variant) is enough to cause a trait to be expressed.

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Synergistic effect

Small changes in multiple factors can have more significant effects than the sum of the individual changes.

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Recessive Inheritance Pattern

A pattern of inheritance where two copies of a recessive allele are needed for the trait to be expressed.

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Somatic mutation theory of cancer

Cancer arises from a build-up of multiple (often small) genetic mutations in cells (somatic)

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Linked Genes

Genes located close together on the same chromosome are more likely to be inherited together.

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Pedigree Analysis

The study of traits passed down through generations based on a systematic representation (family tree).

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Complex Disease

A disease caused by a combination of genetic predisposition, lifestyle, and environmental factors.

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Sex-linked Inheritance

Inheritance pattern where genes are located on sex chromosomes (typically X in humans).

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Hemophilia

A sex-linked recessive genetic disorder that impairs blood clotting making individuals prone to prolonged bleeding.

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Environmental Factors (in Biology)

The external conditions and influences that affect an organism or system, including lifestyle and internal cellular environment.

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Different Cellular Environments

Different parts of an organism, even if in the same organism, can have different biochemical environments due to specialized barriers or tissues.

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Carrier

An individual who carries a recessive allele but does not exhibit the trait.

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Heterozygous Carrier

A person having two different alleles for a particular gene, one dominant and one recessive.

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Key Pedigree Analysis Indications

Look at every generation for affected individuals, see if affected couplings have unaffected offspring, and note differences between males and females for possible sex-linked inheritance.

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Multifactorial Traits

Traits that result from an interplay of multiple genes and environmental components.

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Monogenic trait

A trait controlled by a single gene; a simplistic concept that doesn't apply to humans.

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Qualitative trait

A trait showing variation at a single locus, but with unexpected results in inheritance patterns.

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Quantitative trait

A trait influenced by multiple genes and environmental factors (showing a range of phenotypes).

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Mendelian inheritance

Predictable patterns of inheritance based on the presence/absence of dominant and recessive alleles.

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Human traits & inheritance

Human traits are complex and influenced by multiple genes and environmental factors, not just a single gene.

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Incomplete Dominance

A type of inheritance where the heterozygote displays an intermediate phenotype, a blend of the two alleles.

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Co-dominance

A type of inheritance where both alleles in a heterozygote are fully expressed, resulting in both traits being visible.

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Mendelian Inheritance (quantitative traits)

In contrast to simple Mendelian inheritance, quantitative traits are influenced by multiple genes, leading to a range of phenotypes.

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Multiple Genes

The number of genes involved to influence a trait.

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Blood Types (genetics)

An example of co-dominance where multiple alleles are present (A, B, O) for distinct outcomes.

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Single Gene Inheritance vs Multiple Genes

The difference between inheritance patterns controlled by single genes compared to the interactions of multiple genes, resulting in complex traits.

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Expressivity

The level of expression of a trait determined by genes, similar to the different shades of color.

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Penetrance

The probability that a specific genotype will manifest as the corresponding phenotype.

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Epistasis

A genetic interaction where one gene affects or masks the expression of another gene, resulting in deviations from expected phenotypic ratios.

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Phenotype

The observable physical or biochemical characteristics of an organism, resulting from the interaction between genotype and environment.

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Genotype

The genetic makeup of an organism, representing the combination of alleles for a particular trait.

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Dihybrid Cross

A cross between two individuals identically heterozygous for two different traits.

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Complete Dominance

A pattern of inheritance in which one allele completely masks the expression of another allele.

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9:3:3:1 ratio

The expected phenotypic ratio in a dihybrid cross with complete dominance.

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9:7 ratio

A deviation from the 9:3:3:1 ratio, where one or both traits are dependent on the presence of another.

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12:3:1 ratio

A deviation from the 9:3:3:1 ratio, indicative of one gene masking another.

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Qualitative Trait

A trait whose variation is determined by a single locus (gene), resulting in distinct categories.

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Quantitative Trait

A trait influenced by multiple genes and possibly environmental factors, producing a range of phenotypes.

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Incomplete Dominance

Heterozygous genotype results in an intermediate phenotype, a blend of the two homozygous phenotypes.

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Codominance

Both alleles in the heterozygous genotype are fully expressed, resulting in both traits being visible.

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Penetrance

Probability that a specific genotype will manifest as the corresponding phenotype.

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Expressivity

The degree to which a genotype is expressed as a phenotype.

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Epistasis

A gene interaction where one gene masks the expression of another.

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Pedigree

A family tree showing the inheritance of a trait or disease over multiple generations.

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First-degree relative

A family member related by blood to you in the first degree of kinship, such as parents, siblings, or children.

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Second-degree relative

A family member related to you through one degree of kinship (your cousins, aunts & uncles).

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Consanguinity

Relationship by descent from a common ancestor.

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Multiple Alleles

The existence of more than two alleles for a single gene in a population.

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Autosomal Dominant

A pattern where affected traits are present in every generation of a family tree. About half the offspring of an affected individual are also affected, and the trait appears equally in both sexes.

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Huntington's Disease

A progressive nerve disorder causing physical and mental disability, often beginning in middle age; a dominant genetic disorder.

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Monogenic disease

A genetic disorder caused by a single gene; they are rare and severe.

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Selective pressure

Factors that favor one trait over another, can eliminate traits or alter their frequency in a population.

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Carrier

Someone who carries a trait causing a disease but doesn't show the disease symptoms.

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Consanguinity

Relationship by descent from a common ancestor.

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Incomplete Dominance

Heterozygote phenotype is intermediate between the two homozygotes.

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Functional Consequences of Genes

Protein levels significantly affect cellular function. Many recessive genes code for enzymes in biochemical pathways.

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Gene Dosage

Reduction of gene product (by half in heterozygote) may be significant, especially for structural proteins.

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Genotype Carrier

Heterozygotes may produce enough gene product to show dominant phenotype and still carry recessive version.

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Variable Expressivity

Genes expressed to different degrees in different individuals (e.g., severity of a disease).

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Incomplete Penetrance

Phenotype predicted by genotype isn't always expressed (e.g., a gene mutation might not cause any effect).

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Epistasis

Gene interaction modifying the 9:3:3:1 dihybrid ratio (F2 generation).

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Epistatic Ratio (9:7)

Homozygous recessive mutations in two genes produce the same phenotype.

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Epistatic Ratio (12:3:1)

A dominant allele of one gene masks the phenotype of a different gene.

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Epistatic Ratio (9:3:4)

Homozygosity for a recessive allele masks expression of a different gene.

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Phenotypic Plasticity

The ability of multiple phenotypes to be encoded by one genotype, in response to environmental cues.

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Pedigree Analysis

Studying traits through generations in a family/relatives to determine inheritance patterns, medical history.

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First-degree relatives

Close relatives with shared genetics (parents, siblings, children).

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Second-degree relatives

Relatives one step removed (grandparents, aunts/uncles, nieces/nephews).

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Third-degree relatives

Even more distant relatives (cousins, great-grandparents).

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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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