Molecular Pathology: Uncover the Molecular Basis of Disease

Question 1

Which genetic change is commonly associated with tumor suppressor gene inactivation?

Accepted Answer

Loss of heterozygosity

Answer

Microsatellite instability

Answer

Chromosomal inversion

Answer

Duplication

Question 2

What is the role of epigenetics in disease development?

Accepted Answer

Altering gene expression without modifying the DNA sequence.

Answer

Repairing damaged DNA.

Answer

Transcribing genes into proteins.

Answer

Regulating cell growth and differentiation.

Question 3

Which technique utilizes DNA amplification and allows for the identification and sequencing of specific DNA regions?

Accepted Answer

Polymerase chain reaction (PCR)

Answer

Microarray

Answer

Southern blotting

Answer

Western blot

Question 4

What is the key difference between a polymorphism and a mutation?

Accepted Answer

Mutations can alter the function of a gene, while polymorphisms typically do not.

Answer

Polymorphisms are common and mutations are rare.

Answer

Polymorphisms are inherited, while mutations are acquired.

Answer

Mutations are harmful, while polymorphisms are neutral.

Question 5

What is the significance of microsatellite instability in tumorigenesis?

Accepted Answer

It suggests a higher likelihood of tumor progression and poor prognosis.

Answer

It indicates a germline mutation that increases cancer risk.

Answer

It is often associated with resistance to certain chemotherapeutic agents.

Answer

It can be used to predict response to immunotherapy.

Question 6

Which type of epigenetic modification involves the addition of methyl groups to DNA?

Accepted Answer

DNA methylation

Answer

Histone acetylation

Answer

Chromatin remodeling

Answer

microRNA interference

Question 7

What is the main advantage of using next-generation sequencing (NGS) in molecular diagnostics?

Accepted Answer

It can identify genetic alterations with high accuracy and sensitivity

Answer

It is relatively inexpensive and easy to perform

Answer

It can be used to detect copy number variations (CNVs)

Answer

It is the only technique that can detect epigenetic changes

Question 8

Which of the following is NOT a potential mechanism by which epigenetic changes can contribute to disease?

Accepted Answer

Inducing chromosomal rearrangements

Answer

Altering gene expression patterns

Answer

Modifying DNA methylation patterns

Answer

Affecting histone modifications

Question 9

What is the term used to describe the study of the molecular basis of disease?

Accepted Answer

Genomics

Answer

Transcriptomics

Answer

Proteomics

Answer

Metabolomics

Question 10

What is a key advantage of using microarrays in molecular diagnostics compared to traditional PCR-based methods?

Accepted Answer

They allow for simultaneous analysis of multiple genes or genomic regions

Answer

They are more sensitive in detecting mutations

Answer

They are less expensive to perform

Answer

They can provide information about gene expression levels

Question 11

Which molecular technique is specifically employed to amplify targeted DNA sequences?

Accepted Answer

PCR (Polymerase Chain Reaction)

Answer

Gel electrophoresis

Answer

DNA sequencing

Answer

Microarray analysis

Question 12

Epigenetic modifications refer to alterations in gene expression that do not involve changes in the underlying DNA sequence. Which of the following exemplifies an epigenetic change?

Accepted Answer

DNA methylation

Answer

Single nucleotide polymorphism (SNP)

Answer

Gene deletion

Answer

Frameshift mutation

Question 13

A defining attribute of genetic disorders is their impact on multiple organ systems. Which of the following options is consistent with this characteristic?

Accepted Answer

Typically affect multiple organ systems

Answer

Can be inherited from either parent

Answer

Always result from spontaneous mutations

Answer

Remain unaffected by environmental influences

Question 14

In the context of cancer development, what role do somatic mutations play?

Accepted Answer

Somatic mutations can activate oncogenes or deactivate tumor suppressor genes

Answer

Somatic mutations are invariably inherited

Answer

Somatic mutations have no bearing on cell growth or behavior

Answer

Somatic mutations are present in every cell of the body

Question 15

Which of the following techniques is NOT employed in molecular karyotyping?

Accepted Answer

Standard karyotyping

Answer

Fluorescence in situ hybridization (FISH)

Answer

Spectral karyotyping

Answer

Comparative genomic hybridization (CGH)

Question 16

What is the fundamental difference between a missense mutation and a nonsense mutation?

Accepted Answer

Missense mutations alter the amino acid sequence, while nonsense mutations introduce a premature stop codon

Answer

Nonsense mutations alter the amino acid sequence, while missense mutations introduce a premature stop codon

Answer

Missense mutations always have a more severe impact on protein function compared to nonsense mutations

Answer

Nonsense mutations always have a more severe impact on protein function compared to missense mutations

Question 17

Which molecular biology technique is used to determine the nucleotide sequence of genetic variants associated with disease?

Accepted Answer

Genotyping

Answer

Immunohistochemistry

Answer

Flow cytometry

Answer

Karyotyping

Question 18

The Human Genome Project's primary objective was to:

Accepted Answer

Sequence the complete human genome

Answer

Identify disease-causing mutations

Answer

Develop therapeutic interventions for genetic diseases

Answer

Understand the genetic basis of evolution

Question 19

In Southern blotting, DNA fragments are separated according to their:

Accepted Answer

Size

Answer

Electrical charge

Answer

Nucleotide sequence

Answer

Structural conformation

Question 20

A common type of genetic variation that alters a single nucleotide is a:

Accepted Answer

Single nucleotide polymorphism (SNP)

Answer

Insertion

Answer

Deletion

Answer

Transversion

Question 21

The term that refers to the entire collection of RNA molecules in a cell at a given time is:

Accepted Answer

Transcriptome

Answer

Genome

Answer

Exome

Answer

Proteome

Question 22

A mutation in the BRCA1 gene is associated with an increased risk of which type of cancer?

Accepted Answer

Breast cancer

Answer

Prostate cancer

Answer

Lung cancer

Answer

Skin cancer

Question 23

Which of the following techniques is used to detect specific DNA sequences in a sample?

Accepted Answer

Polymerase Chain Reaction (PCR)

Answer

Electron microscopy

Answer

Flow cytometry

Answer

Immunohistochemistry

Question 24

A patient presents with a family history of cystic fibrosis. Which type of genetic testing would be most appropriate to assess their risk?

Accepted Answer

Carrier testing

Answer

Prenatal testing

Answer

Predictive testing

Answer

Diagnostic testing

Question 25

Which of the following is an example of an epigenetic modification that can alter gene expression?

Accepted Answer

DNA methylation

Answer

Gene deletion

Answer

Point mutation

Answer

Chromosomal translocation

Question 26

A patient with a tumor exhibiting overexpression of HER2 protein is likely to benefit from which targeted therapy?

Accepted Answer

Trastuzumab

Answer

Imatinib

Answer

Cetuximab

Answer

Bevacizumab

Question 27

Which of the following statements is TRUE about next-generation sequencing (NGS)?

Accepted Answer

NGS allows for simultaneous analysis of multiple genes.

Answer

NGS is less expensive than traditional Sanger sequencing.

Answer

NGS is only useful for diagnosing rare genetic disorders.

Question 28

A patient with a diagnosis of chronic myeloid leukemia (CML) is most likely to have which specific chromosomal abnormality?

Accepted Answer

Philadelphia chromosome

Answer

Deletion of p53

Answer

Trisomy 21

Question 29

Which of the following statements BEST describes the role of microRNAs (miRNAs) in gene regulation?

Accepted Answer

miRNAs can bind to mRNA and inhibit protein translation.

Answer

miRNAs act as transcription factors.

Answer

miRNAs directly modify DNA sequences.

Question 30

A patient with a mutation in the CFTR gene is at increased risk for which disease?

Accepted Answer

Cystic fibrosis

Answer

Huntington's disease

Answer

Duchenne muscular dystrophy

Answer

Hemophilia A