Genetic Basis of Human Disease: Online Quizzes and Learning

Question 1

In autosomal dominant inheritance, which of the following is true?

Accepted Answer

The trait is expressed when only one mutant allele is present.

Answer

The trait is expressed only in individuals with two copies of the mutant allele.

Answer

The trait is more common in males than in females.

Answer

The trait is always passed from father to son.

Question 2

Which of the following statements accurately describes a key characteristic of autosomal dominant inheritance?

Accepted Answer

Individuals with the disorder possess one mutant allele and one wild-type allele.

Answer

Individuals with the disorder possess two copies of the mutant allele.

Answer

Individuals without the disorder possess two copies of the wild-type allele.

Question 3

In the context of genetic disorders, define the difference between 'genotype' and 'phenotype'. Explain how these concepts contribute to our understanding of disease.

Accepted Answer

Genotype refers to an organism's genetic makeup, while phenotype represents its observable traits.

Answer

Genotype is the outward expression of a trait, while phenotype is the underlying genetic code.

Answer

Genotype and phenotype are interchangeable terms in genetics.

Answer

Phenotype refers to an organism's genetic makeup, while genotype represents its observable traits.

Question 4

Which of the following is a hallmark of Mendelian disorders?

Accepted Answer

Inheritance patterns following simple ratios

Answer

Complex inheritance patterns

Answer

Highly variable expressivity

Answer

Non-penetrance

Question 5

What is the term used to describe when an individual carries a mutation for a genetic disease but does not exhibit symptoms?

Accepted Answer

Non-penetrance

Answer

Reduced penetrance

Answer

Variable expressivity

Answer

Incomplete dominance

Question 6

What is the technique used to determine the sequence of nucleotides in a specific DNA region?

Accepted Answer

DNA sequencing

Answer

Karyotyping

Answer

Polymerase Chain Reaction (PCR)

Answer

Gene mapping

Question 7

Which of the following is NOT considered a risk factor for developing complex traits?

Accepted Answer

Purely random chance

Answer

Genetic predisposition

Answer

Environmental exposure

Answer

Lifestyle choices

Question 8

What is the term used to describe a mutation that results in the substitution of one amino acid for another in a protein?

Accepted Answer

Missense mutation

Answer

Nonsense mutation

Answer

Insertion mutation

Answer

Deletion mutation

Question 9

What is the term used to describe a tumor that has the potential to spread to other parts of the body?

Accepted Answer

Malignant tumor

Answer

Benign tumor

Answer

Metastatic tumor

Answer

Pre-cancerous lesion

Question 10

What is the term used to describe the study of genetic variation within a population?

Accepted Answer

Population genetics

Answer

Molecular genetics

Answer

Cytogenetics

Answer

Bioinformatics

Question 11

'Penetrance' refers to:

Accepted Answer

The proportion of individuals carrying a gene mutation who develop the associated disease

Answer

The severity of the disease phenotype

Answer

The type of inheritance pattern of a particular disease

Answer

The association between a genetic variant and a disease

Question 12

Which of the following is a commonly used method for identifying disease-causing mutations?

Accepted Answer

Whole-exome sequencing

Answer

Genome-wide association studies

Answer

Single nucleotide polymorphism genotyping

Answer

Karyotyping

Question 13

Describe the interplay between genetic and environmental factors in the development of complex traits. Provide an example to illustrate how this interaction influences disease susceptibility.

Accepted Answer

Genetic and environmental factors interact to shape complex trait development, with varying degrees of impact for different traits.

Answer

Genetic factors alone determine complex trait development, with no environmental influence.

Answer

Environmental factors solely dictate complex trait development, with no genetic influence.

Question 14

Which of the following inheritance patterns does NOT follow Mendelian principles?

Accepted Answer

Polygenic

Answer

Autosomal dominant

Answer

Autosomal recessive

Answer

X-linked dominant

Question 15

Which technique is commonly used to detect genetic mutations?

Accepted Answer

Polymerase chain reaction (PCR)

Answer

Karyotyping

Answer

Electrocardiography (ECG)

Answer

Magnetic resonance imaging (MRI)

Question 16

The concept of penetrance in genetics refers to:

Accepted Answer

The percentage of individuals with a specific genotype who display the associated phenotype

Answer

The severity of a genetic condition

Answer

The age of onset of a genetic disease

Answer

The mode of inheritance of a genetic trait

Question 17

Which of the following is a characteristic of complex traits?

Accepted Answer

Determined by multiple genes

Answer

Exhibit clear Mendelian inheritance patterns

Answer

Unaffected by environmental influences

Answer

Always have a mild clinical presentation

Question 18

The Human Genome Project aimed to:

Accepted Answer

Sequence the entire human genome

Answer

Identify all genetic diseases

Answer

Develop new drugs

Answer

Understand the function of every gene

Question 19

The study of genetic variation within human populations is known as:

Accepted Answer

Population genetics

Answer

Molecular genetics

Answer

Epigenetics

Answer

Quantitative genetics

Question 20

Which of the following is a classic example of a Mendelian disorder with an autosomal recessive inheritance pattern?

Accepted Answer

Sickle cell anemia

Answer

Type 2 diabetes

Answer

Cystic fibrosis

Answer

Huntington's disease

Question 21

Which of the following technologies is primarily used to identify genetic variations associated with complex traits?

Accepted Answer

Genome-wide association studies (GWAS)

Answer

Karyotyping

Answer

Polymerase chain reaction (PCR)

Answer

Fluorescence in situ hybridization (FISH)

Question 22

What is the role of somatic mutations in the development of cancer?

Accepted Answer

They can activate oncogenes or inactivate tumor suppressor genes in somatic cells.

Answer

They are always inherited from parents.

Answer

They only occur in blood cells.

Answer

They are harmless and do not contribute to cancer.

Question 23

In the context of sickle cell anemia, what is the specific genetic alteration that leads to the disease?

Accepted Answer

A single nucleotide substitution in the beta-globin gene

Answer

A deletion in the alpha-globin gene

Answer

A duplication in the gamma-globin gene

Answer

A translocation between chromosomes 11 and 15

Question 24

Which type of genetic variation is most frequently associated with complex traits?

Accepted Answer

Single nucleotide polymorphisms (SNPs)

Answer

Copy number variations (CNVs)

Answer

Trinucleotide repeat expansions

Answer

Deletions and insertions (Indels)

Question 25

For detecting mutations in a particular gene, which genetic testing method is most appropriate?

Accepted Answer

Whole-exome sequencing

Answer

Karyotyping

Answer

Fluorescence in situ hybridization (FISH)

Answer

Microarray analysis

Question 26

Which inheritance pattern is characterized by affected members in each generation of a family?

Accepted Answer

Autosomal dominant

Answer

Autosomal recessive

Answer

X-linked dominant

Answer

X-linked recessive

Question 27

Which genetic technology has had the greatest impact in the field of genomics?

Accepted Answer

DNA sequencing

Answer

Genome-editing tools

Answer

Polymerase chain reaction (PCR)

Answer

Microarrays

Question 28

Which of the following is NOT a hallmark of Mendelian disorders?

Accepted Answer

Onset typically early in life

Answer

Monogenic defects

Answer

Strict adherence to Mendelian inheritance patterns

Answer

Mutations commonly occurring in coding regions

Question 29

Which of the following is an exemplar of a complex trait?

Accepted Answer

Height

Answer

Cystic fibrosis

Answer

Huntington's disease

Answer

Hemophilia

Question 30

Which technology is employed to identify genetic variants associated with disease?

Accepted Answer

Genome-wide association study (GWAS)

Answer

Karyotyping

Answer

Polymerase chain reaction (PCR)

Answer

Southern blotting

Question 31

In a mating between a male with hemophilia and a female carrier for hemophilia, what is the probability that their female child will be a carrier?

Accepted Answer

50%

Answer

100%

Answer

25%

Answer

75%

Question 32

Which of the following best describes the primary role of genetic counselors?

Accepted Answer

Providing information and support, along with interpreting genetic test results and offering guidance to individuals and families affected by genetic disorders

Answer

Conducting research to identify the genetic basis of diseases

Answer

Performing genetic tests to diagnose genetic conditions

Question 33

Which parent contributes an X chromosome to their child?

Accepted Answer

Mother

Answer

Both parents contribute an X chromosome

Answer

Father

Answer

The child inherits two X chromosomes from the mother

Question 34

A defining characteristic of autosomal dominant disorders is that:

Accepted Answer

Affected individuals typically have at least one affected parent

Answer

Affected individuals are always homozygous for the mutant allele

Answer

Carrier individuals do not exhibit any symptoms

Question 35

An individual with a heterozygous genotype for a recessive disorder is considered a:

Accepted Answer

Carrier

Answer

Unaffected homozygote

Answer

Affected individual

Answer

Homozygote

Question 36

Which of the following is a characteristic of polygenic disorders?

Accepted Answer

Exhibits continuous variation in the phenotype

Answer

Follows Mendelian inheritance patterns

Answer

Typically caused by a single mutation in a major gene

Answer

Low heritability

Question 37

Which of the following is a well-established risk factor for developing cancer?

Accepted Answer

Exposure to carcinogens

Answer

Possessing a strong immune system

Answer

Being of a young age

Answer

Maintaining a healthy lifestyle

Question 38

Which of the following is NOT a mechanism involved in regulating gene expression?

Accepted Answer

DNA methylation within exons

Answer

Histone modifications

Answer

RNA interference

Question 39

Which of the following represents a type of genetic variation?

Accepted Answer

Single nucleotide polymorphism (SNP)

Answer

Physical exercise

Answer

Smoking

Answer

Healthy diet

Question 40

Which method is used to analyze chromosomes and diagnose chromosomal disorders?

Accepted Answer

Karyotyping

Answer

X-ray imaging

Answer

Blood sugar test

Answer

Electrocardiogram

Question 41

Which ethical concern is primarily associated with genetic testing?

Accepted Answer

Genetic discrimination

Answer

Diminished healthcare outcomes

Answer

Reduced access to genetic information

Answer

Increased anxiety about genetic risks

Question 42

Which of the following is NOT a recognized Mendelian inheritance pattern?

Accepted Answer

Polygenic inheritance

Answer

X-linked recessive

Answer

Autosomal recessive

Answer

Autosomal dominant

Question 43

Which genotype represents a heterozygous individual?

Accepted Answer

Aa

Answer

AaBb

Answer

aa

Answer

AA

Question 44

Which factor plays a significant role in the development of complex traits?

Accepted Answer

Environmental factors

Answer

Solely monogenic mutations

Answer

Exclusively chromosomal abnormalities

Answer

Only advanced maternal age

Question 45

Somatic mutations are primarily associated with which type of disease?

Accepted Answer

Cancer

Answer

Strictly complex traits

Answer

Only Mendelian disorders

Answer

Exclusively infectious diseases

Question 46

Which diagnostic tool is commonly used in genetic testing to detect chromosomal abnormalities?

Accepted Answer

Karyotyping

Answer

Electrocardiogram

Answer

X-ray

Answer

Blood glucose test

Question 47

What is the primary role of genetic counselors in the context of human disease?

Accepted Answer

Providing information and emotional support to affected individuals and their families.

Answer

Solely prescribing genetic treatments

Answer

Exclusively conducting research on genetic disorders

Question 48

Who is considered the 'father of genetics' for his groundbreaking work with pea plants, laying the foundation for our understanding of inheritance?

Accepted Answer

Gregor Mendel

Answer

James Watson

Answer

Francis Crick

Question 49

What type of genetic mutation is responsible for sickle cell anemia, leading to the production of abnormal hemoglobin?

Accepted Answer

Single nucleotide polymorphism (SNP)

Answer

Insertion mutation

Answer

Deletion mutation

Answer

Chromosomal translocation

Question 50

Cystic fibrosis is an autosomal recessive disorder. This means that for an individual to inherit the disease, what must be true about their parents?

Accepted Answer

Both parents must carry at least one copy of the mutated gene.

Answer

The disease is only inherited from the mother.

Answer

The disease can be inherited from only one parent.

Question 51

Huntington's disease is caused by an expansion of a CAG repeat within the HTT gene. What type of mutation is this?

Accepted Answer

Trinucleotide repeat expansion.

Answer

Nonsense mutation.

Answer

Single nucleotide polymorphism.

Answer

Frameshift mutation.

Question 52

A patient with a BRCA1 gene mutation has an increased risk of developing which type of cancer?

Accepted Answer

Breast cancer.

Answer

Prostate cancer.

Answer

Colon cancer.

Answer

Lung cancer.

Question 53

What is the likely consequence of a mutation in a tumor suppressor gene within a patient's cancer cells?

Accepted Answer

Increased cell proliferation and tumor growth.

Answer

No effect on cell proliferation or tumor growth.

Answer

Reduced cell proliferation and tumor regression.

Answer

Increased cell differentiation and tumor suppression.

Question 54

A mutation in the LDLR gene is associated with familial hypercholesterolemia. What is the most likely effect of this mutation on cholesterol levels?

Accepted Answer

Elevated LDL cholesterol levels.

Answer

Reduced LDL cholesterol levels.

Answer

No significant impact on cholesterol levels.

Answer

Elevated HDL cholesterol levels.

Question 55

Which of the following is NOT a potential benefit of genetic testing for disease risk?

Accepted Answer

Guaranteed prevention of disease development.

Answer

Improved understanding of individual disease risk.

Answer

Early detection and intervention.

Answer

Personalized treatment options.

Question 56

A patient with a genetic predisposition to a certain disease is advised to adopt a healthy lifestyle. What is the primary rationale for this advice?

Accepted Answer

Modifying environmental factors can reduce disease risk, even in individuals with genetic predispositions.

Answer

Lifestyle changes can completely eliminate disease risk.

Answer

Lifestyle changes have no impact on disease risk.

Question 57

What is the main principle behind gene therapy as a treatment option for diseases like sickle cell anemia?

Accepted Answer

Introducing a functional copy of the gene to correct the genetic defect.

Answer

Supplying the missing protein product.

Answer

Eliminating the mutated gene.