Genetic Basis of Common Diseases
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Questions and Answers

What defines common diseases in terms of inheritance?

  • They occur due to polygenic inheritance and environmental factors. (correct)
  • They have a simple inheritance mechanism.
  • They have no genetic basis.
  • They primarily result from a single gene mutation.

Which of the following diseases is categorized as a common disease?

  • Alzheimer's disease (correct)
  • Hemophilia
  • Duchenne muscular dystrophy
  • Osteogenesis imperfecta

What term describes the increased likelihood of developing a disease based on genetics?

  • Genetic mutation
  • Monogenic disorder
  • Genetic predisposition (correct)
  • Polygenic risk

What is the primary purpose of genetic testing?

<p>To confirm or rule out genetic conditions. (A)</p> Signup and view all the answers

Which condition is NOT considered a common disease?

<p>Phenylketonuria (C)</p> Signup and view all the answers

What is characterized as multifactorial inheritance?

<p>Interaction between multiple genes and environmental factors. (A)</p> Signup and view all the answers

What is a significant impact of common diseases on public health?

<p>They contribute substantially to morbidity and mortality rates. (B)</p> Signup and view all the answers

Which statement about genetic susceptibility is true?

<p>It can be identified through genetic markers. (C)</p> Signup and view all the answers

What is one advantage of direct-to-consumer genetic testing?

<p>It provides a sense of relief from uncertainty. (C)</p> Signup and view all the answers

Which of the following is a disadvantage of genetic testing?

<p>It could lead to increased anxiety and stress. (D)</p> Signup and view all the answers

Which gene mutation is associated with familial hypercholesterolemia?

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

What can be a consequence of positive genetic test results?

<p>A false sense of invulnerability to diseases. (A)</p> Signup and view all the answers

In the case of α1 antitrypsin deficiency, the SERPINA1 gene mutation leads to disease under what condition?

<p>Exposure to industrial dust. (A)</p> Signup and view all the answers

Which of the following limitations is NOT associated with genetic testing?

<p>It is always affordable for everyone. (B)</p> Signup and view all the answers

What is a potential benefit of knowing your genetic risk for certain diseases?

<p>Ability to make informed medical and lifestyle decisions. (B)</p> Signup and view all the answers

Direct-to-consumer genetic testing typically omits which of the following components?

<p>Involvement of healthcare providers. (A)</p> Signup and view all the answers

Which genetic factors are associated with the early familial form of a disorder?

<p>APP, PSEN1, PSEN2, MPO (B)</p> Signup and view all the answers

What characterizes autism in early development?

<p>It begins in the first three years of life. (D)</p> Signup and view all the answers

Which type of diabetes is characterized by its association with a single mutation?

<p>MODY (Maturity Onset Diabetes of the Young) (B)</p> Signup and view all the answers

What indicates that the environmental factor is more important than genetic factors?

<p>If the incidence of the disease grows to the level of the new population. (C)</p> Signup and view all the answers

What is a common representation of the genetic contributions to diabetes mellitus type 2?

<p>Variants of many genes are implicated. (C)</p> Signup and view all the answers

Which clinical feature is not typically associated with autism?

<p>Strong academic performance. (A)</p> Signup and view all the answers

Which genes belong to the category of late familial forms of a disorder?

<p>APOE e4, ACE, PICALM (D)</p> Signup and view all the answers

Which of the following is a feature of neonatal diabetes?

<p>It can be either permanent or transient. (D)</p> Signup and view all the answers

Flashcards

Direct-to-Consumer Genetic Testing

Genetic testing done directly by consumers, without needing healthcare professionals or insurance involvement.

Mutated Gene

A change in a gene's sequence that can increase the risk of developing a disease.

Allelic Variant (Polymorphism)

A variation in a gene that doesn't necessarily cause disease, but might make someone more sensitive to environmental factors.

De Novo Mutation

A mutation that happens during a person's lifetime, not inherited from parents, and might be influenced by exposure to things like radiation.

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Genetic Susceptibility

A condition where a person has a higher-than-average chance of developing a certain disease due to their genes.

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Family History

Studying family history to understand disease patterns and identify individuals at higher risk.

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Genetic Risk Assessment

Using genetic information to predict an individual's risk of developing a specific disease.

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Personalized Preventive Measures

Changes in lifestyle or behavior based on knowledge of genetic risk factors.

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Common Diseases

Diseases that are common in the population, have a major impact on health, and are not simply caused by a single gene mutation. They are often influenced by a combination of genes and environmental factors.

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Multifactorial Inheritance

The inheritance pattern of traits controlled by multiple genes, where the effects of each gene are additive and influenced by environmental factors.

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Genetic Testing

A medical test that examines chromosomes, genes, or proteins to identify specific changes or variations.

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Monogenic Disorders

Conditions caused by a single mutated gene, often with a clear pattern of inheritance.

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Monofactorial Inheritance

Traits controlled by a single gene, where inheritance follows relatively predictable patterns.

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Genotype

A complete set of genes present in an organism.

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Immigration Group Research

A research method used to study the genetic basis of diseases by comparing the prevalence of the disease in an immigration group to the prevalence in the new population. If the incidence of the disease remains low in the immigration group, it suggests a stronger genetic component. If the incidence increases to the level of the new population, it indicates a stronger environmental influence.

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Family Research

A research method that studies the role of genes in disease by examining the inheritance patterns of the disease within families. The study of families with higher rates of a particular illness can provide insights into the potential genetic factors.

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Twin Research

A research method used to investigate the genetic and environmental contributions to a disease by comparing the concordance rates (likelihood of both twins having the disease) for identical (MZ) and fraternal (DZ) twins. This method helps distinguish between genetics and shared environment in the development of the disease.

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Adoption Research

A research method that examines the influence of genes on disease by studying adopted individuals. This method allows researchers to determine the relative contributions of genetic and environmental factors to the development of a disease.

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Polymorphism Association Research

A research method that investigates the relationship between specific genetic variations (polymorphisms) and the occurrence of a disease. These variations can be found within genes associated with the disease, helping to identify potential genetic risk factors.

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Biochemical Research

A research method used to study the biochemical pathways involved in a disease by analyzing metabolite, enzyme, or hormone levels in body fluids or tissues. This approach helps understand the biochemical processes affected by the disease and potential pharmacological targets.

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Animal Models

A research method that uses animals to study the genetic and physiological aspects of a disease. This method allows researchers to manipulate genes, study disease progression, and test potential therapies in a controlled environment.

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MODY (Maturity-Onset Diabetes of the Young)

A type of diabetes that develops in early childhood and is caused by mutations in specific genes. These genes regulate the body's ability to produce insulin.

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Study Notes

Genetic Basis of Common Diseases

  • Medical genetics typically focuses on rare, single-gene disorders
  • Common diseases, like diabetes, cancers, heart disease, autism, schizophrenia, Crohn's, Alzheimer's, atopic disease, venous thrombosis, and macular degeneration, have more complex inheritance
  • These disorders are influenced by multiple genes interacting with environmental factors, a concept termed multifactorial inheritance
  • A small number of diseases have clear genetic causes located in a few genes
  • In most cases, the genetic basis is a predisposition or susceptibility
  • Increased likelihood or chance of developing a disease is due to gene mutations and/or family history

Forms and Mechanisms of Genetic Predisposition

  • Inheritance of a mutated gene whose altered product participates in a particular metabolic pathway
  • Example: mutation of the FH gene leading to familial hypercholesterolemia and Coronary Heart Disease (CHD)
  • Inheritance of allelic variants (polymorphisms): leading to increased sensitivity to the environment (unknown responses)
  • De novo mutations during life and exposure to mutagens (example: exposure to industrial dust causing a mutation of SERPINA1 gene leading to a1-antitrypsin deficiency causing pulmonary emphysema)

Ways of Proving Genetic Susceptibility to Common Diseases

  • Population-migration research
  • Family research
  • Twin studies
  • Adoption research
  • Investigating polymorphisms
  • Biochemical research
  • Animal models
  • Analysis of metabolites, enzymes, and hormone levels

Specific Diseases and Associated Genes

  • Alzheimer's Disease: Early and late forms involve multiple genes: APP, PSEN1, PSEN2, MPO (early); APOE e4, ACE, PICALM (late)
  • Dementia: Involves multiple genes including, AAAS, CSF1R, DCTN1, DNMT1 etc
  • Parkinson's Disease: Associated genes include ATP13A2, AUP1, BAIAP2L2, CSF1R, DCTN1, EIF4G1, FBXO7, GBA, etc.
  • Autism: Genetic susceptibility factors include Copy Number Variations, Epigenetics, Double-Hit Mutations, and Sex-Linked Modifiers
  • Diabetes Mellitus: Monogenic forms (MODY) caused by one gene mutation; Type 1 and Type 2 are complex with multiple genes involved along with environmental interactions

Genetic Testing

  • Genetic tests identify changes in chromosomes, genes, or proteins
  • Results can confirm or rule out suspected genetic conditions and predict chances of developing or passing on the disorder
  • Direct-to-consumer genetic tests provide individuals with their genetic information without going through a physician
  • Benefits include sense of relief, cancer risk reduction strategies, understanding medical risks (lifestyle changes, and family discussions), and earlier detection
  • Drawbacks include anxiety, incomplete results, and unproven reliability

Risk Factors and Advantages/Disadvantages of Genetic Testing

  • Risk Factors: Genetic predisposition can increase the risk of developing a condition
  • Psychological factors: Testing may increase anxiety and stress for some individuals and have psychological implications
  • Uncertainties and Inconclusiveness: Results may be unclear and inconclusive, insufficient counseling
  • Limitations of Tests: DNA tests are not completely reliable (100%); results may not be appropriate for medical use
  • Cost: Tests can be expensive
  • Interpretation Complexity: Results can be challenging to interpret for individuals, and may be misused

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Genetic Basis of Common Diseases PDF

Description

Explore the multifactorial inheritance of common diseases such as diabetes, heart disease, and Alzheimer's. This quiz examines the complex interactions between genes and environmental factors, along with specific examples of genetic predispositions. Test your understanding of medical genetics and the genetic roots of prevalent health issues.

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