Genetics and Health: Learn About Genetic Disorders and Their Impact

Question 1

Which of the following is a characteristic of autosomal dominant inheritance?

Accepted Answer

Expressed in both males and females

Accepted Answer

Heterozygous individuals always have an affected phenotype

Answer

Requires two copies of the dominant allele for expression

Answer

More severe in males than females

Question 2

What is the primary cause of genetic disorders?

Accepted Answer

Mutations in genes

Answer

Inheritance from the mother only

Answer

Preventable in all cases

Answer

Always present from birth

Question 3

What is the primary cause of genetic disorders?

Accepted Answer

Gene mutations

Answer

Environmental factors

Answer

Lifestyle choices

Answer

Aging

Question 4

Identify the characteristic that does NOT define a genetic disorder:

Accepted Answer

Exclusively affects physical traits

Answer

Arises from mutations in genes

Answer

Inherited from parents

Answer

Treatable with medication

Question 5

Which gene mutation is responsible for cystic fibrosis?

Accepted Answer

CFTR

Answer

HBB

Answer

BRCA1

Answer

PTEN

Question 6

Describe the inheritance pattern observed in cystic fibrosis:

Accepted Answer

Autosomal recessive

Answer

Autosomal dominant

Answer

X-linked dominant

Answer

X-linked recessive

Question 7

Which of the following is a characteristic symptom of cystic fibrosis?

Accepted Answer

Thick, sticky mucus in the lungs

Answer

Painful, swollen joints

Answer

Intellectual disability

Answer

Frequent seizures

Question 8

Identify the gene responsible for sickle cell anemia:

Accepted Answer

HBB

Answer

CFTR

Answer

BRCA1

Answer

APC

Question 9

Which inheritance pattern is characteristic of cystic fibrosis?

Accepted Answer

Autosomal recessive

Answer

Autosomal dominant

Answer

X-linked dominant

Answer

X-linked recessive

Question 10

Which factor is NOT considered a risk factor for developing a genetic disorder?

Accepted Answer

Healthy lifestyle

Answer

Family history

Answer

Age

Answer

Exposure to radiation

Question 11

What is the primary purpose of genetic counseling?

Accepted Answer

Providing information on genetic risks and inheritance patterns

Answer

Diagnosing genetic disorders

Answer

Prescribing medications

Answer

Performing surgeries

Question 12

Which screening test is commonly used to identify genetic disorders in newborns?

Accepted Answer

Heel prick test

Answer

Amniocentesis

Answer

Chorionic villus sampling

Answer

Ultrasound

Question 13

What is the distinction between genotype and phenotype?

Accepted Answer

Genotype refers to the genetic makeup, while phenotype refers to the observable traits

Answer

Genotype refers to the observable traits, while phenotype refers to the genetic makeup

Answer

Genotype and phenotype are the same thing

Answer

There is no difference between genotype and phenotype

Question 14

What is a potential ethical concern associated with genetic testing?

Accepted Answer

Increased anxiety and potential for discrimination

Answer

Early detection of potential health risks

Answer

Access to personalized treatment options

Answer

Improved reproductive decision-making

Question 15

What ethical concern is associated with genetic testing?

Accepted Answer

Insurance discrimination

Accepted Answer

Genetic privacy

Answer

Improved medical diagnosis

Answer

Scientific advancements

Question 16

A couple with no known family history of inherited genetic disorders has a child diagnosed with cystic fibrosis. Which inheritance pattern is most likely for this disorder in this family?

Accepted Answer

Autosomal recessive

Answer

Autosomal dominant

Answer

X-linked dominant

Answer

X-linked recessive

Question 17

Which of the following is not a characteristic of genetic disorders?

Accepted Answer

Can be prevented with vaccinations

Answer

Caused by alterations in DNA

Answer

Passed down from parents to offspring

Answer

Affects the physical or mental health of an individual

Question 18

Cystic fibrosis is caused by a mutation in which gene?

Accepted Answer

CFTR

Answer

BRCA1

Answer

HBB

Answer

HTT

Question 19

Which of the following is an example of an autosomal dominant trait?

Accepted Answer

Only one parent needs to carry the mutated gene for the condition to manifest in the offspring

Answer

Both parents must carry the mutated gene for the condition to manifest in the offspring

Answer

Only males can inherit the condition

Answer

Only females can inherit the condition

Question 20

Which of the following is an example of a chromosomal disorder?

Accepted Answer

Down syndrome

Answer

Cystic fibrosis

Answer

Sickle cell anemia

Answer

Huntington's disease

Question 21

Which of the following are potential benefits of gene editing as a treatment for genetic disorders?

Accepted Answer

Precise targeting of specific mutations

Accepted Answer

Feasibility of treating a wide range of genetic disorders

Answer

Elimination of the risk of side effects

Answer

Immediate availability for clinical applications

Question 22

How does genetic counseling assist individuals and families in coping with the risks and effects of genetic disorders?

Accepted Answer

Offers information on the inheritance patterns and potential risks of genetic conditions.

Answer

Prescribes medical treatments for genetic disorders.

Answer

Guarantees prevention or cure for genetic disorders.

Answer

Focuses exclusively on the medical aspects of genetic disorders.

Question 23

What is the underlying cellular defect in cystic fibrosis?

Accepted Answer

Defective chloride transport

Answer

Abnormal hemoglobin structure

Answer

Reduced production of digestive enzymes

Answer

Impaired immune system function

Question 24

What is the main role of a genetic counselor in managing genetic disorders?

Accepted Answer

Providing information and support to individuals and families

Answer

Conducting genetic testing and interpreting results

Answer

Developing new treatments for genetic disorders

Answer

Writing prescriptions for medications

Question 25

Which of the following is NOT a risk factor for developing genetic disorders?

Accepted Answer

Regular exercise and a healthy diet

Answer

Consanguinity

Answer

Advanced parental age

Answer

Exposure to certain environmental toxins

Question 26

What is the difference between a genotype and a phenotype?

Accepted Answer

Genotype refers to the genetic makeup, while phenotype refers to the observable traits.

Answer

Genotype refers to the observable traits, while phenotype refers to the genetic makeup.

Answer

Genotype and phenotype are interchangeable terms.

Answer

Phenotype refers to the genetic makeup, while genotype refers to the observable traits.

Question 27

Which of the following is a characteristic of an autosomal dominant disorder?

Accepted Answer

Affected individuals have at least one copy of the mutated gene.

Answer

Males are more likely to be affected than females.

Answer

Symptoms are typically more severe in males than in females.

Answer

It cannot be inherited from an unaffected parent.

Question 28

The main purpose of a karyotype is to analyze:

Accepted Answer

The number and structure of chromosomes

Answer

Specific gene mutations

Answer

The sex of an individual

Answer

Biochemical markers for genetic disorders

Question 29

When assessing genetic information from online sources, which factor is crucial to consider?

Accepted Answer

Author's expertise

Answer

Website accessibility

Answer

Number of references

Answer

Website popularity

Question 30

In which type of genetic disorder do both parents carry and pass on a harmful allele to their offspring?

Accepted Answer

Recessive

Answer

Dominant

Answer

Co-dominant

Answer

Incomplete dominant

Question 31

Cystic fibrosis is caused by a mutation in the:

Accepted Answer

CFTR gene

Answer

BRCA1 gene

Answer

HBB gene

Answer

APC gene

Question 32

What is a karyotype?

Accepted Answer

A diagram showing the arrangement of chromosomes

Answer

A blood test to detect genetic disorders

Answer

A type of gene therapy

Answer

A technique used to identify carriers

Question 33

Which of the following is NOT a factor that can increase the risk of genetic disorders?

Accepted Answer

Healthy nutrition

Answer

Closely related parents (consanguinity)

Answer

Advanced parental age

Answer

Exposure to environmental toxins

Question 34

How do patient advocacy groups influence policies and research priorities for genetic disorders?

Accepted Answer

Raising awareness and educating the public about genetic disorders

Accepted Answer

Lobbying government officials for laws supporting research and healthcare access

Answer

Providing financial support to research institutions

Answer

Conducting independent research studies

Question 35

Which of the following is a correct statement about genetic testing for carriers of genetic disorders?

Accepted Answer

It can be used to estimate the probability of a couple having a child with a genetic disorder.

Answer

It can only identify carriers of recessive genetic disorders.

Answer

It can accurately predict the severity of a genetic disorder in an individual.

Question 36

Which of the following genetic disorders is the most common in the UK?

Accepted Answer

Cystic fibrosis

Answer

Sickle cell anemia

Answer

Tay-Sachs disease

Answer

Hemophilia

Question 37

Which type of inheritance pattern is associated with cystic fibrosis?

Accepted Answer

Autosomal recessive

Answer

Autosomal dominant

Answer

X-linked dominant

Answer

Y-linked recessive

Question 38

Within the CFTR gene, which mutation is associated with the most severe form of cystic fibrosis?

Accepted Answer

F508del

Answer

G542X

Answer

N1303K

Answer

R1162L

Question 39

What is the primary function of the CFTR protein?

Accepted Answer

Chloride ion transport

Answer

Surfactant production

Answer

Mucus breakdown

Answer

Immune response regulation

Question 40

In sickle cell anemia, what is the primary cause of morbidity and mortality?

Accepted Answer

Vasoocclusive crises

Answer

Anemia

Answer

Stroke

Answer

Organ failure

Question 41

Which of the following is NOT a characteristic of sickle-shaped red blood cells?

Accepted Answer

Decreased risk of clotting

Answer

Increased flexibility

Answer

Reduced oxygen-carrying capacity

Answer

Slower blood flow

Question 42

What is a key ethical concern associated with genetic testing?

Accepted Answer

Privacy of genetic information

Answer

Accuracy of test results

Answer

Availability for all

Answer

Cost of testing

Question 43

Which of the following is a common genetic disorder that primarily affects the respiratory system, characterized by the buildup of thick mucus?

Accepted Answer

Cystic fibrosis

Answer

Sickle cell anemia

Answer

Huntington's disease

Answer

Down syndrome

Question 44

Which type of inheritance pattern is characterized by a disorder being passed down from an affected parent to half of their children, regardless of their gender?

Accepted Answer

Autosomal dominant

Answer

Autosomal recessive

Answer

X-linked dominant

Answer

X-linked recessive

Question 45

In cystic fibrosis, what is the primary function of the defective CFTR protein?

Accepted Answer

Transporting chloride ions across cell membranes, regulating the flow of water and mucus

Answer

Producing insulin, a hormone that regulates blood sugar levels

Answer

Breaking down carbohydrates into energy

Answer

Regulating blood pressure, ensuring proper circulation

Question 46

What is the primary role of genetic counselors in managing genetic disorders?

Accepted Answer

Providing information, support, and guidance to individuals and families affected by or at risk of genetic conditions

Answer

Performing genetic testing to identify specific genetic mutations

Answer

Treating genetic disorders using medical interventions

Answer

Developing new genetic therapies through research

Question 47

What is the distinction between a gene and an allele?

Accepted Answer

A gene represents the specific location on a chromosome, while an allele refers to a specific variation or form of that gene.

Answer

An allele represents the specific location on a chromosome, while a gene refers to a specific variation or form of that allele.

Answer

Genes and alleles are essentially the same concept, without any meaningful difference.

Answer

Genes are found in the cell nucleus, whereas alleles are located in the cytoplasm.

Question 48

Which of the following factors does NOT typically influence the severity of a genetic disorder?

Accepted Answer

The person's gender

Answer

The type of genetic mutation causing the disorder

Answer

The age at which symptoms first appear

Answer

Environmental factors that can interact with the genetic mutation

Question 49

Which of the following statements about genetic disorders is false?

Accepted Answer

Genetic disorders can be entirely prevented by adopting a healthy lifestyle.

Answer

Genetic disorders are caused by changes in the DNA sequence.

Answer

Genetic disorders can be inherited from parents.

Answer

Genetic disorders can impact physical or mental characteristics.

Question 50

Which type of genetic disorder arises from a mutation in just one gene?

Accepted Answer

Monogenic disorder

Answer

Mitochondrial disorder

Answer

Polygenic disorder

Answer

Chromosomal disorder

Question 51

Which type of genetic disorder is characterized by alterations in the number or structure of chromosomes?

Accepted Answer

Chromosomal disorder

Answer

Polygenic disorder

Answer

Monogenic disorder

Answer

Mitochondrial disorder

Question 52

Which of the following is an example of a chromosomal disorder?

Accepted Answer

Down syndrome

Answer

Cystic fibrosis

Answer

Huntington's disease

Answer

Sickle cell anemia

Question 53

Which factor increases the risk of developing a genetic disorder?

Accepted Answer

Family history of genetic disorders

Answer

Exposure to environmental toxins

Answer

Consuming a healthy diet

Answer

Regular physical activity

Question 54

What is a primary goal of genetic counseling?

Accepted Answer

Providing individuals with information about the potential risks of genetic disorders

Answer

Making a definitive diagnosis of genetic disorders

Answer

Treating genetic disorders

Question 55

Which of these represents a recent breakthrough in the field of genetic disorders?

Accepted Answer

CRISPR-Cas9 gene editing technology

Answer

Discovery of penicillin

Answer

X-ray imaging

Answer

The invention of the microscope