Genetics and Disease Risk Chapter 11

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Questions and Answers

What is the primary intended purpose of cloning pigs in the context of human medicine?

  • To study pig behavior.
  • To create genetically modified pigs for food.
  • To develop a source of organs for transplantation. (correct)
  • To understand pig genetics.

Which of the following is a concern raised by animal rights proponents regarding animal cloning?

  • Cloning can lead to extinction of species.
  • Animal cloning significantly improves livestock efficiency.
  • Animals should not be subjected to experiments for human benefit. (correct)
  • Animal cells are incapable of human integration.

What percentage of clones born alive are affected by 'large-offspring syndrome'?

  • 20%
  • 40%
  • 30% (correct)
  • 10%

What complication commonly causes the oversized offspring seen in cloned animals?

<p>Deactivation of insulin-like growth factor 2 receptors. (A)</p> Signup and view all the answers

Which of the following is NOT an ethical concern related to human cloning?

<p>Cloning could lead to human extinction. (D)</p> Signup and view all the answers

What is a significant issue that researchers face with current reproductive cloning techniques?

<p>Understanding the processes involved in cloning well enough for success. (C)</p> Signup and view all the answers

What condition have many cloned animals, such as Dolly the sheep, suffered from post-cloning?

<p>Prematurely dying from infections. (D)</p> Signup and view all the answers

Which aspect of cloning poses a major challenge when considering its application to humans?

<p>The unclear impact on mental development. (C)</p> Signup and view all the answers

What is the primary purpose of predictive genetic testing?

<p>To identify potential hereditary diseases in individuals (A)</p> Signup and view all the answers

How many genes are estimated to be present in the human genome according to the findings of the Human Genome Project?

<p>Around 20,000 to 25,000 genes (C)</p> Signup and view all the answers

What is the function of carrier testing?

<p>To determine if individuals carry harmful genes for offspring (B)</p> Signup and view all the answers

What is one method used in prenatal testing to identify genetic disorders?

<p>Ultrasound for detecting fetal abnormalities (D)</p> Signup and view all the answers

What was a major surprise from the Human Genome Project regarding the number of genes?

<p>Humans have significantly fewer genes than expected (C)</p> Signup and view all the answers

Which genetic condition is mentioned as an example for predictive genetic testing?

<p>Huntington's disease (B)</p> Signup and view all the answers

In which year did the Human Genome Project actually complete its mapping of the human genome?

<p>2000 (C)</p> Signup and view all the answers

What does each gene in the human genome primarily hold the formula for?

<p>Producing enzymes or proteins (C)</p> Signup and view all the answers

What ethical dilemma could arise from cloning a child to resemble one parent after a divorce?

<p>The non-custodial parent might feel resentment towards the child. (B)</p> Signup and view all the answers

Which of the following is a method used in gene therapy?

<p>Inserting a normally functioning gene into affected cells. (B)</p> Signup and view all the answers

How can gene therapy be applied in utero?

<p>By administering medication to the mother. (D)</p> Signup and view all the answers

What might be a consequence if gene therapy is only available to the wealthy?

<p>It may create a gap in health outcomes between classes. (C)</p> Signup and view all the answers

What is an example of a condition that may be treated with somatic gene therapy?

<p>Adenosine deaminase deficiency. (B)</p> Signup and view all the answers

Which dietary modification can help manage phenylketonuria?

<p>Special diets eliminating toxic compounds. (A)</p> Signup and view all the answers

What social impact might arise from the cloning of humans?

<p>Cloning may only be accessible to affluent families. (C)</p> Signup and view all the answers

Which of the following outcomes is associated with using folic acid in gene therapy?

<p>It reduces homocysteine levels in certain gene carriers. (A)</p> Signup and view all the answers

What does the doctrine of parens patriae allow the state to do?

<p>Override parental decisions in the child's best interest (A)</p> Signup and view all the answers

Which law does NOT pertain to adoptive parents and their children?

<p>Health Insurance Portability and Accountability Act (D)</p> Signup and view all the answers

Under what condition may physicians legally withhold treatment from severely disabled newborns?

<p>If treatment is deemed futile and the parents agree (D)</p> Signup and view all the answers

What is one reason mothers might abandon their infants shortly after birth?

<p>Fear or desperation (C)</p> Signup and view all the answers

How do safe haven laws provide protection to parents who abandon their newborns?

<p>They provide specified safe locations and prevent legal prosecution (C)</p> Signup and view all the answers

What legal rights do newborns have in the context of citizenship?

<p>Same rights as any other American citizen (C)</p> Signup and view all the answers

What is a major consequence of the increase in infant abandonment stories?

<p>Enactment of safe haven laws in all states (B)</p> Signup and view all the answers

Which situation allows parents to withhold treatment from their severely disabled newborns?

<p>If treatment would cause undue suffering (C)</p> Signup and view all the answers

What causes genetic diseases?

<p>Mutations in DNA (D)</p> Signup and view all the answers

Which condition is an example of a single-gene mutation disease?

<p>Sickle cell anemia (B)</p> Signup and view all the answers

What is the role of genetic counselors?

<p>To explain test results to patients (C)</p> Signup and view all the answers

Which act was passed to protect individuals from genetic discrimination?

<p>Genetic Information Nondiscrimination Act (GINA) (C)</p> Signup and view all the answers

What may trigger genetic diseases involving multiple genes?

<p>Environmental factors (D)</p> Signup and view all the answers

Which of the following is an example of a condition caused by chromosomal abnormalities?

<p>Down syndrome (D)</p> Signup and view all the answers

What legal protection does HIPAA provide concerning genetic information?

<p>Preventing coverage denial based on genetic information (D)</p> Signup and view all the answers

Why do individuals fear participating in genetic research or testing?

<p>Concerns about genetic discrimination (D)</p> Signup and view all the answers

What does the Americans with Disabilities Act (ADA) protect against in relation to genetic discrimination?

<p>Discrimination based on genetic information (C)</p> Signup and view all the answers

Which of the following is a potential use of genetic engineering?

<p>Transferring genes to enhance crop resistance (A)</p> Signup and view all the answers

What is the primary aim of gene cloning?

<p>To produce exact copies of specific segments of DNA (D)</p> Signup and view all the answers

What characterizes the process of cloning?

<p>Asexual reproduction from a single ancestor (C)</p> Signup and view all the answers

Under the ADA, which factor does not justify denial of insurance?

<p>Having a disability that does not pose increased risks (D)</p> Signup and view all the answers

Which of the following best describes genetic engineering?

<p>A process involving altering DNA for beneficial traits (B)</p> Signup and view all the answers

What is one main reason for cloning genes?

<p>To gain information about their nucleotide sequences (B)</p> Signup and view all the answers

Which of the following outcomes is NOT associated with genetic engineering?

<p>Generating a complete cure for hereditary genetic diseases (D)</p> Signup and view all the answers

Flashcards

What is a gene?

A small segment of DNA that contains the instructions for making a specific protein or enzyme.

What is the human genome?

The complete set of genetic instructions contained within all 23 pairs of human chromosomes. It dictates all the traits and characteristics of an individual.

What is the purpose of the Human Genome Project?

The Human Genome Project aimed to map all the genes within the human chromosomes. Scientists wanted to understand the full genetic makeup of humans.

What is predictive genetic testing?

This testing analyzes genes to identify if individuals carry variations that might lead to inherited diseases or conditions. It helps determine the risk of developing specific diseases in the future.

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What is carrier testing?

Used to determine if individuals carry harmful genes that could be passed on to their offspring. It is a screening test for potential genetic risks for future generations.

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What is prenatal testing?

This testing is used to identify genetic disorders in a fetus during pregnancy. Ultrasound and other methods are employed to assess fetal development.

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What is the significance of the Human Genome Project's findings?

The project revealed that humans have around 20,000 to 25,000 genes, significantly fewer than initially estimated. This discovery advanced our understanding of gene function and human evolution.

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What is the relationship between genes and traits?

Genes provide the instructions for building proteins, which influence our physical and functional characteristics, such as eye color, height, and susceptibility to certain diseases.

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Pharmacogenetics

The study of how genes influence a person's response to medication.

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Genetic Disease

A disease caused by changes in DNA (mutations) that affect one or more genes.

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Mutations in Genetic Disease

Changes in DNA sequences that can lead to genetic diseases. These can affect one gene, like in cystic fibrosis, or multiple genes.

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Environmental Triggers in Genetic Disease

Factors like aging, smoking, or exposure to toxins can contribute to the development of genetic diseases. These factors may 'switch on' genes.

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Genetic Discrimination

Treating individuals differently based on their actual or perceived genetic differences.

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Genetic Information Nondiscrimination Act (GINA)

A law passed in 2008 to protect people from discrimination in employment and health insurance based on their genes.

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Health Insurance Portability and Accountability Act (HIPAA)

A law passed in 1996 to prevent health insurers from denying coverage based on genetic information when individuals switch between group health plans.

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Genetic Counseling

A professional service that helps individuals understand and manage genetic information and its implications.

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ADA's Protection against Genetic Discrimination

The Americans with Disabilities Act (ADA) protects against discrimination based on genetic information related to illness, disease, or other disorders in the workplace.

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Genetic Engineering

The process of altering an organism's genetic makeup by adding, deleting, or changing genes.

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Example of Genetic Engineering

Adding genes from Arctic flounder to strawberry plants to improve their cold tolerance.

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Cloning

Creating an exact genetic replica of another cell, tissue, or organism.

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Gene Cloning

Creating exact copies of specific DNA segments called genes.

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Purpose of Gene Cloning

Gene cloning is used to study gene sequences and manipulate genes by altering their structure or combining them with new DNA.

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Benefits of Gene Cloning

Gene cloning allows researchers to create multiple copies of genes for extensive study and manipulation, aiding scientific advancements.

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Xenotransplantation

The process of transplanting organs or tissues from animals into humans.

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Ethical Concerns with Animal Cloning

Arguments against using animals for research, including potential harm to animals and ethical concerns about using them for human benefit.

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Large-Offspring Syndrome

A condition affecting cloned animals, characterized by oversized offspring, enlarged organs, and other health issues.

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Insulin-like Growth Factor 2 Receptors

Proteins that regulate cell growth and development. Deactivation of these receptors can lead to large-offspring syndrome.

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Reproductive Cloning Success Rate

The percentage of successful cloning attempts, which is currently low for animals.

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Premature Death in Cloned Animals

Cloned animals often die prematurely from infections and complications.

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Mental Development in Cloned Humans

The potential impact of cloning on mental development, which is unknown and a concern for human cloning.

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Ethical Concerns with Human Cloning

Questions surrounding the ethics of human cloning, particularly the risks and potential harm involved in experimental trials.

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What is gene therapy?

Gene therapy is the process of introducing a functional copy of a gene into cells to correct a genetic defect or disease.

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How does gene therapy work for metabolic disorders?

Gene therapy can target metabolic disorders by replacing missing enzymes or blocking overactive pathways.

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Example of gene therapy for metabolic disorders

Special diets, like those used for phenylketonuria and homocystinuria, can help eliminate toxic compounds.

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What are the types of gene therapy?

There are two main types: Somatic gene therapy, which involves replacing genes in body cells, and Germline gene therapy, which targets reproductive cells.

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What is somatic gene therapy?

Somatic gene therapy involves replacing a defective gene with a working copy in specific body cells.

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Example of somatic gene therapy

Somatic gene therapy has been used to treat adenosine deaminase deficiency, a severe immunodeficiency that usually results in death in early childhood.

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Ethical issues associated with human cloning

Cloning raises complex ethical questions like potential physical problems for the clone, family dynamics, and access to the technology for the wealthy.

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Legal status of human cloning

While most states have laws banning human cloning, there is no federal law prohibiting it.

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Adoption Laws

All 50 states have laws regulating adoption, ensuring a legal framework for establishing the parent-child relationship.

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Federal Laws Affecting Adoption

Certain federal laws like the Adoption Assistance and Child Welfare Act influence aspects of adoption, ensuring child welfare and parental rights.

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Parents' Rights in Healthcare

Common law grants parents the authority to make healthcare decisions for their minor children.

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Parens Patriae Doctrine

The state can act as parental authority in certain situations to protect the child's best interests, potentially overriding parental decisions.

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Treatment Options for Severely Disabled Newborns

Federal law allows for specific treatment options, including withholding treatment, for newborns with severe disabilities, under parental consent and specific criteria.

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Safe Haven Laws

All 50 states have laws allowing parents to safely abandon newborns at designated locations without legal prosecution, aimed at preventing infant abandonment.

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Infant Abandonment

Abandonment of infants often occurs due to fear or desperation, highlighting the need for safe haven laws to protect abandoned newborns.

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Legal Rights of Newborns

Newborns have the same legal rights as any other American citizen, regardless of their medical condition.

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Study Notes

Chapter 11 Objectives

  • LO 11.1: Discuss family history as a predictor of disease risk.
  • LO 11.2: Identify appropriate uses for DNA testing, and explain how such tests might lead to genetic discrimination.
  • LO 11.3: Define genetic engineering and explain why cloning and stem cell research are controversial.
  • LO 11.4: Explain three possible remedies for couples experiencing infertility problems.
  • LO 11.5: List those laws affecting healthcare that pertain especially to children's rights.

Vocabulary

  • Heredity: The process by which genetic traits are passed from ancestors to offspring.
  • Genetics: The science that accounts for differences and resemblances among people and other organisms related by descent.
  • DNA (deoxyribonucleic acid): Makes up chromosomes and contains the genetic code for building proteins.

Figure 11.1 Description

  • Cell nucleus: Contains 23 pairs of chromosomes.
  • Chromosomes: Structures containing DNA.
  • Genes: Segments of DNA that hold the formula for making specific enzymes or proteins.
  • Bases: Building blocks of DNA.
  • DNA strand: The double helix structure of DNA.

DNA

  • The relationship between DNA inherited from ancestors and diseases is scientifically proven.
  • Family history is a strong risk factor for diseases like cancer, cardiovascular disease, diabetes, autoimmune disorders, and psychiatric illnesses.
  • Cultural and socioeconomic experiences from family can influence the risk for health problems.
  • Humans have approximately 20,000 to 25,000 genes.

DNA Testing

  • Predictive testing: Used to determine if genes associated with hereditary diseases are present.
  • Carrier testing: Determines if individuals carry harmful genes that could be passed to offspring.

More Testing

  • Prenatal testing: Used to identify genetic disorders in the fetus (e.g., ultrasound, amniocentesis, chorionic villus sampling).
  • Preimplantation testing: Looks for harmful genes in embryos before implantation.

More Testing (continued)

  • Forensic testing: Used in law enforcement to identify suspects or victims.
  • Tracing lineage: Used to determine relationships within families.
  • Newborn screening: Screens for treatable genetic conditions.
  • Diagnostic testing: Confirms or rules out genetic diseases.
  • Medical treatment determination: Determines effectiveness and dosage of medications.

Genetic Disease

  • Mutations in DNA, either involving one or multiple genes, often cause genetic diseases.
  • Environmental factors can trigger certain genetic diseases.
  • Abnormalities in chromosomes can also cause genetic diseases (e.g., Down syndrome).

Genetic Discrimination

  • Increased ability to identify genetic differences raises concerns about the proper use of this information.
  • There's fear of discrimination based on genetic information for research, testing, or insurance purposes.
  • Laws like GINA (Genetic Information Nondiscrimination Act) aim to prevent discrimination.
  • HIPAA prevents health insurers from denying coverage based on genetic information (but only for moving between plans).

Genetic Engineering

  • Genetic engineering: The process of changing DNA to transfer desirable characteristics to different species.
  • Engineering has been used to improve crops (better resistance to disease and climate), creating new bacteria and animals, etc.

Cloning

  • Cloning creates a genetic replica of a cell, tissue, or organism.
  • Gene cloning: Producing exact copies of DNA segments (genes).
  • Therapeutic cloning: Producing embryonic stem cells for repairing injured tissue.
  • Reproductive cloning: Producing copies of entire animals.

Cloning (continued)

  • Cloning mammals faces challenges with success rate and health issues in cloned offspring.
  • Ethical concerns regarding the use of reproductive cloning exist, including the potential for misuse.

Exceptions to the Rule

  • Cloning genetically modified animals has objectives in medicine and agriculture.
  • Ethical concerns and animal rights objections are raised due to the use of non-human animals in these situations.

Gene Therapy

  • Gene therapy: Inserting a normally functioning gene to correct genetic diseases.
  • It's similar to therapy for other disorders (special diets, vitamins, etc.).
  • It can involve replacing deficiencies, blocking overactive pathways, or using cellular or organ transplantation.

Gene Therapy (Continued)

  • Germ-line gene therapy is controversial due to ethical, research, and cost concerns.

Infertility

  • Infertility affects a significant portion of couples, with several treatment options.
  • In vitro fertilization: Combining sperm and egg outside the body for fertilization and implantation.
  • Artificial insemination: Injecting sperm into the vagina, depending on the sperm's viability.
  • Surrogacy: A surrogate mother carries the embryo to term for another couple.

Surrogate/Adoption

  • Surrogate mother: Carries a child to term for another couple (gestational or traditional).
  • Adoption: A process for parents to legally adopt a child.

Children's Rights

  • Common law grants parents significant decisions about their minor children's health care.
  • Legal guidelines exist that can allow the state to act as parental authority for abused or neglected children.
  • Laws regarding newborns with disabilities define circumstances where treatment can be refused.

Abandonment

  • Safe Haven laws allow parents to abandon a newborn but must abide by the specified time frame and location.

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