ROBBINS BASIC PATHOLOGY
10TH EDITION
AUTHOR(S)VINAY KUMAR; ABUL K.
ABBAS; JON C. ASTER
TEST BANK
1
Reference – Ch. 1 — The Genome
Question stem
A 28-year-old woman with unexplained recurrent thrombosis
undergoes genomic testing that shows a single-nucleotide
polymorphism (SNP) in a regulatory noncoding region near a
coagulation gene. Which mechanism best explains how the SNP
could increase thrombosis risk?
Options
A. The SNP creates a novel protein with procoagulant activity.
B. The SNP disrupts transcription factor binding and increases
gene expression.
,C. The SNP deletes a coding exon leading to a truncated
coagulation protein.
D. The SNP increases mitochondrial DNA replication in
hepatocytes.
Correct answer
B
Rationales
Correct (B): Noncoding variants (including SNPs in regulatory
regions) commonly alter transcription factor binding or
enhancer activity, changing expression of nearby genes and
thereby affecting phenotype. This mechanism explains
increased procoagulant protein levels and thrombosis risk.
Incorrect (A): SNPs in noncoding regions do not create novel
proteins because they are not translated.
Incorrect (C): Deleting a coding exon is a structural coding
mutation (large deletion), not an isolated regulatory SNP.
Incorrect (D): Mitochondrial DNA replication changes are
unrelated to a nuclear regulatory SNP near a coagulation gene.
Teaching point
Noncoding variants can alter gene expression by changing
regulatory element activity.
Citation (simplified APA)
Kumar et al. (2017). Robbins Basic Pathology (10th Ed.). Ch. 1.
Scribd+1
,2
Reference – Ch. 1 — The Genome
Question stem
A patient’s tumor sequencing reveals amplification of a proto-
oncogene caused by a copy number variant (CNV). Which
cellular consequence most directly follows CNV-driven proto-
oncogene amplification?
Options
A. Loss of heterozygosity and reduced protein expression.
B. Increased mRNA and protein expression of the proto-
oncogene.
C. Increased microRNA repression of tumor suppressors.
D. Enhanced lysosomal degradation of the proto-oncogene
protein.
Correct answer
B
Rationales
Correct (B): Gene amplification (a CNV) increases copy number,
typically raising mRNA transcription and protein levels of the
amplified gene, which can drive oncogenic signaling.
Incorrect (A): Loss of heterozygosity denotes deletion of a
functional allele, not amplification.
Incorrect (C): microRNA repression is a post-transcriptional
regulatory mechanism but is not the direct result of DNA
amplification.
, Incorrect (D): Lysosomal degradation is a protein degradation
pathway and is not a direct consequence of increased gene
copy number.
Teaching point
Copy number gains raise gene dosage → increased mRNA and
protein expression.
Citation (simplified APA)
Kumar et al. (2017). Robbins Basic Pathology (10th Ed.). Ch. 1.
Scribd+1
3
Reference – Ch. 1 — The Genome
Question stem
A neonate with multiple congenital anomalies is found to have
abnormal histone modification patterns on chromatin analysis.
Which downstream effect best explains how altered histone
modification produces abnormal tissue development?
Options
A. Immediate cleavage of mRNA transcripts.
B. Changes in chromatin accessibility altering gene transcription
during development.
C. Sudden changes in mitochondrial oxidative phosphorylation.
D. Increased proteasomal degradation of DNA.
10TH EDITION
AUTHOR(S)VINAY KUMAR; ABUL K.
ABBAS; JON C. ASTER
TEST BANK
1
Reference – Ch. 1 — The Genome
Question stem
A 28-year-old woman with unexplained recurrent thrombosis
undergoes genomic testing that shows a single-nucleotide
polymorphism (SNP) in a regulatory noncoding region near a
coagulation gene. Which mechanism best explains how the SNP
could increase thrombosis risk?
Options
A. The SNP creates a novel protein with procoagulant activity.
B. The SNP disrupts transcription factor binding and increases
gene expression.
,C. The SNP deletes a coding exon leading to a truncated
coagulation protein.
D. The SNP increases mitochondrial DNA replication in
hepatocytes.
Correct answer
B
Rationales
Correct (B): Noncoding variants (including SNPs in regulatory
regions) commonly alter transcription factor binding or
enhancer activity, changing expression of nearby genes and
thereby affecting phenotype. This mechanism explains
increased procoagulant protein levels and thrombosis risk.
Incorrect (A): SNPs in noncoding regions do not create novel
proteins because they are not translated.
Incorrect (C): Deleting a coding exon is a structural coding
mutation (large deletion), not an isolated regulatory SNP.
Incorrect (D): Mitochondrial DNA replication changes are
unrelated to a nuclear regulatory SNP near a coagulation gene.
Teaching point
Noncoding variants can alter gene expression by changing
regulatory element activity.
Citation (simplified APA)
Kumar et al. (2017). Robbins Basic Pathology (10th Ed.). Ch. 1.
Scribd+1
,2
Reference – Ch. 1 — The Genome
Question stem
A patient’s tumor sequencing reveals amplification of a proto-
oncogene caused by a copy number variant (CNV). Which
cellular consequence most directly follows CNV-driven proto-
oncogene amplification?
Options
A. Loss of heterozygosity and reduced protein expression.
B. Increased mRNA and protein expression of the proto-
oncogene.
C. Increased microRNA repression of tumor suppressors.
D. Enhanced lysosomal degradation of the proto-oncogene
protein.
Correct answer
B
Rationales
Correct (B): Gene amplification (a CNV) increases copy number,
typically raising mRNA transcription and protein levels of the
amplified gene, which can drive oncogenic signaling.
Incorrect (A): Loss of heterozygosity denotes deletion of a
functional allele, not amplification.
Incorrect (C): microRNA repression is a post-transcriptional
regulatory mechanism but is not the direct result of DNA
amplification.
, Incorrect (D): Lysosomal degradation is a protein degradation
pathway and is not a direct consequence of increased gene
copy number.
Teaching point
Copy number gains raise gene dosage → increased mRNA and
protein expression.
Citation (simplified APA)
Kumar et al. (2017). Robbins Basic Pathology (10th Ed.). Ch. 1.
Scribd+1
3
Reference – Ch. 1 — The Genome
Question stem
A neonate with multiple congenital anomalies is found to have
abnormal histone modification patterns on chromatin analysis.
Which downstream effect best explains how altered histone
modification produces abnormal tissue development?
Options
A. Immediate cleavage of mRNA transcripts.
B. Changes in chromatin accessibility altering gene transcription
during development.
C. Sudden changes in mitochondrial oxidative phosphorylation.
D. Increased proteasomal degradation of DNA.
