ROBBINS BASIC PATHOLOGY
10TH EDITION
AUTHOR(S)VINAY KUMAR; ABUL K.
ABBAS; JON C. ASTER
TEST BANK
1)
Reference
Ch. 1 — The Cell as a Unit of Health and Disease — The
Genome
Question Stem
A 28-year-old woman undergoes genetic testing after recurrent
early miscarriages. Her clinician explains that variants in
noncoding regions may alter gene expression. Which
mechanism best explains how noncoding DNA can produce
disease by altering gene expression?
Options
A. Generating truncated proteins through frameshift mutations
in introns
,B. Altering chromatin structure through changes in enhancer or
promoter sequences
C. Causing immediate degradation of mRNA transcripts in the
cytoplasm
D. Encoding alternative enzyme isoforms that compete with
normal enzymes
Correct Answer
B
Rationales
• Correct (B): Variants in noncoding regions
(promoters/enhancers) change transcription factor binding
or chromatin accessibility, altering gene transcription and
phenotypes.
• Incorrect (A): Introns are noncoding and frameshifts in
introns typically do not create truncated proteins unless
splicing is affected; the mechanism described is not the
usual effect of noncoding variants.
• Incorrect (C): Cytoplasmic mRNA degradation is usually
influenced by UTR sequences or microRNAs, not directly by
noncoding genomic variants in enhancers/promoters.
• Incorrect (D): Noncoding DNA does not encode proteins,
so it does not create competing enzyme isoforms.
Teaching Point
Noncoding variants often affect enhancer/promoter function
and chromatin, changing gene expression.
,Citation (simplified APA)
Kumar et al. (2021). Robbins Basic Pathology (10th Ed.). Ch. 1.
2)
Reference
Ch. 1 — The Cell as a Unit of Health and Disease — The
Genome
Question Stem
A newborn is diagnosed with a syndrome caused by a deletion
of several adjacent genes. Which term best describes this type
of genetic variation and its mechanism?
Options
A. Single nucleotide polymorphism → altered codon usage
B. Copy-number variation → dosage effects from gene deletion
C. Mitochondrial heteroplasmy → variable expression in tissues
D. Trinucleotide repeat expansion → gain-of-function toxicity
Correct Answer
B
Rationales
• Correct (B): Deletions involving adjacent genes are copy-
number variations; loss of gene copies leads to reduced
gene dosage and disease.
• Incorrect (A): SNPs are single-base changes, not large
deletions affecting multiple genes.
, • Incorrect (C): Mitochondrial heteroplasmy involves
mitochondrial DNA variants, not chromosomal deletions of
nuclear genes.
• Incorrect (D): Trinucleotide repeat expansions are
repetitive sequence increases, not multi-gene deletions.
Teaching Point
Copy-number variations cause disease via altered gene dosage
(deletions or duplications).
Citation (simplified APA)
Kumar et al. (2021). Robbins Basic Pathology (10th Ed.). Ch. 1.
3)
Reference
Ch. 1 — The Cell as a Unit of Health and Disease — The
Genome
Question Stem
A clinical researcher studies methylation of CpG islands near
tumor-suppressor genes in colon biopsies. Which statement
best predicts the likely effect of hypermethylation at these
sites?
Options
A. Increased gene transcription and tumor-suppressor
overexpression
B. Stabilization of mRNA transcripts and enhanced translation
10TH EDITION
AUTHOR(S)VINAY KUMAR; ABUL K.
ABBAS; JON C. ASTER
TEST BANK
1)
Reference
Ch. 1 — The Cell as a Unit of Health and Disease — The
Genome
Question Stem
A 28-year-old woman undergoes genetic testing after recurrent
early miscarriages. Her clinician explains that variants in
noncoding regions may alter gene expression. Which
mechanism best explains how noncoding DNA can produce
disease by altering gene expression?
Options
A. Generating truncated proteins through frameshift mutations
in introns
,B. Altering chromatin structure through changes in enhancer or
promoter sequences
C. Causing immediate degradation of mRNA transcripts in the
cytoplasm
D. Encoding alternative enzyme isoforms that compete with
normal enzymes
Correct Answer
B
Rationales
• Correct (B): Variants in noncoding regions
(promoters/enhancers) change transcription factor binding
or chromatin accessibility, altering gene transcription and
phenotypes.
• Incorrect (A): Introns are noncoding and frameshifts in
introns typically do not create truncated proteins unless
splicing is affected; the mechanism described is not the
usual effect of noncoding variants.
• Incorrect (C): Cytoplasmic mRNA degradation is usually
influenced by UTR sequences or microRNAs, not directly by
noncoding genomic variants in enhancers/promoters.
• Incorrect (D): Noncoding DNA does not encode proteins,
so it does not create competing enzyme isoforms.
Teaching Point
Noncoding variants often affect enhancer/promoter function
and chromatin, changing gene expression.
,Citation (simplified APA)
Kumar et al. (2021). Robbins Basic Pathology (10th Ed.). Ch. 1.
2)
Reference
Ch. 1 — The Cell as a Unit of Health and Disease — The
Genome
Question Stem
A newborn is diagnosed with a syndrome caused by a deletion
of several adjacent genes. Which term best describes this type
of genetic variation and its mechanism?
Options
A. Single nucleotide polymorphism → altered codon usage
B. Copy-number variation → dosage effects from gene deletion
C. Mitochondrial heteroplasmy → variable expression in tissues
D. Trinucleotide repeat expansion → gain-of-function toxicity
Correct Answer
B
Rationales
• Correct (B): Deletions involving adjacent genes are copy-
number variations; loss of gene copies leads to reduced
gene dosage and disease.
• Incorrect (A): SNPs are single-base changes, not large
deletions affecting multiple genes.
, • Incorrect (C): Mitochondrial heteroplasmy involves
mitochondrial DNA variants, not chromosomal deletions of
nuclear genes.
• Incorrect (D): Trinucleotide repeat expansions are
repetitive sequence increases, not multi-gene deletions.
Teaching Point
Copy-number variations cause disease via altered gene dosage
(deletions or duplications).
Citation (simplified APA)
Kumar et al. (2021). Robbins Basic Pathology (10th Ed.). Ch. 1.
3)
Reference
Ch. 1 — The Cell as a Unit of Health and Disease — The
Genome
Question Stem
A clinical researcher studies methylation of CpG islands near
tumor-suppressor genes in colon biopsies. Which statement
best predicts the likely effect of hypermethylation at these
sites?
Options
A. Increased gene transcription and tumor-suppressor
overexpression
B. Stabilization of mRNA transcripts and enhanced translation
