A. Chromosome mutation
B. Frameshift mutation
C. Genome mutation
D. Gene mutation
E. Point mutation
A. Frameshift mutation
B. Gene mutation
C. Point mutation
D. A & B
E. All of the above
Q3. Mutation resulting in deletion of 2 base pair in an exon of single gene is called?
Q4. Deletion of 3 base pairs involving two codons would lead to?
A. Frameshift mutation
B. Change in open reading frame
C. Abnormal protein with one AA missing
D. Abnormal protein with two AA missing
E. A and C
Q5. Sickle cell anemia (point mutation leading to a faulty protein) is an example of which
type of mutation?
A. Nonsense mutation
B. Frameshift mutation
C. Trinucleotide repeat mutation
D. Conservative missense mutation
E. Nonconservative missense mutation
Q7. All of the following are characteristics of X-linked recessive disorders except..
Q9. A mutation that results in an altered amino acid that causes a change in function of
the protein is called a:
A. Frameshift mutation
B. Conservative missense mutation
C. Conservative nonsense mutation
D. Nonconservative missense mutation
E. Nonconservative nonsense mutation
Q10. An autosomal dominant mutation that that has 50% penetrance indicates:
Q11. Which of the following features is NOT consistent with an autosomal recessive
disorder?
A. Onset is usually early in life
B. Complete penetrance is common
C. The expression of the defect tends to be uniform
D. Enzyme proteins are usually affected by loss of function
E. New recessive mutations will commonly become clinical in adolescents
Q17. Majority of the mutations that are associated with genetic diseases are
A. Chromosome mutations
B. Genome mutations
C. Gene mutations
D. A&C
E. All
General pathology 2008-2009
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Q18. Which of the following about autosomal recessive disorders is FALSE
Q19. All of the following are true regarding bovine Marfan syndrome except…
A. May lead to aortic dissection
B. Characterized by increased joint laxity
C. Caused by a defect in fibrillin metabolism
D. Characterized by ocular changes (ectopia lentis)
E. Transmitted by autosomal recessive inheritance
Q23. In Alexander disease, reported in dog and sheep, there is accumulation of GFAP
and alphaB-crystallin in which of the following cell types?
A. Neurons
B. Microglia
C. Astrocytes
D. Macrophages
E. Oligodendrocytes
General pathology 2008-2009
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Q24. In canines deficiency in all of the following enzymes results in lysosomal storage
diseases EXCEPT.
A. α-Mannosidase
B. β-Galactosidase
C. β-Hexosaminadase
D.Galactosylceramidase
E. Palmitoyl protein thioesterase
1. Genetic mutations
2. Lack of protein transport
3. Synthesis of inactive enzymes
4. Posttranslational processing defects
5. Lack of substrate or enzyme activator
A. 1
B. 1,2
C. 1,2,3
D. 1,2,3,4
E. 1,2,3,4,5
Q26. The enzyme that is deficient /defective in GM2 gangliosidosis in dogs is:
A. α-mannosidase
B. β-galactosidase
C. β-hexosaminidase
D. Mannose-6-phosphatase
E. Palmitoyl protein transferase
Q27. Which of the following is not a recognized cause of lysosomal storage diseases?
PBVD p. 928
A. Lack of an enzyme activator
B. Reduction in lysosomal enzyme synthesis
C. Synthesis of an inactive lysosomal enzyme
D. Failure of fusion of phagosomes to lysosomes
E. Defect in posttranslational processing of the enzyme
A. Equine
B. Bovine
C. Canine
D. Feline
E. Ovine
General pathology 2008-2009
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Q29. Lysosomal storage disorders occur due to all the following except
A. Defect in post-translational processing
B. Catalytically inactive protein
C. Lack of transport protein
D. Lack of enzyme activator
E. Loss of phagocytosis
Q31. Which of the following organelles is not involved with synthesis and intracellular
transport of lysosomal enzymes?
A. Nucleus
B. Lysosomes
C. Mitochondria
D. Golgi apparatus
E. Rough endoplasmic reticulum
Q33. What storage product accumulates in neurons of those affected with Nieman-Pick
Disease: Type C?
A. Glycogen
B. Cholesterol
C. Gangliosides
D. Sphingolipids
E. Glycosaminoglycans
Q34. Which cells would be most likely be affected by a glycogen storage disease?
A. Neurons and hepatocytes
B. Neurons and skeletal myocytes
C. Hepatocytes and skeletal myocytes
D. Mononuclear phagocytes and cardiac myocytes
E. Cardiac myocytes and renal tubule epithelial cells
General pathology 2008-2009
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A. Reciprocal translocation
B. Ring chromosome
C. Isochromosome
D. Inversions
E. None of the above
A. Environmental effect
B. Mutation of more than two genes
C. Mutation of one gene with multiple functions
D. A&B
E. All the above
A. Anaphase lag
B. Nondisjunction
C. Chromosomal aberration
D. A&B
E. All the above
Q38. Disorders with multifactorial inheritance can be confused with what Mendelian
phenomena?
A. Pleotropism
B. Codominance
C. Reduced Penetrance
D. Variable Expressivity
E. Both c and d
A. α-Mannosidase
B. β-Mannosidase
C. α-Galactosidase
D. Sphingomyelinase
E. β-Hexosaminidase
A. Liver
B. Brain
C. Kidney
D. Skeletal muscle
E. Monocyte-Macrophage system
Q46. The hormone that plays an important role in phenotypic characteristics of male or
female pseudohermaphroditism is
A. Progesterone
General pathology 2008-2009
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B. Adrenaline
C. Androgen
D. Cortisol
E. All the above
Q47. Which of the following single gene disorders are nonclassic patterns of
inheritance? (p.181)
A. Triplet-repeat mutations
B. Mutations in mitochondrial genes
C. Genomic imprinting
D. Gonadal mosaicism
E. All of the above
A. Paternal inheritance
B. Maternal inheritance
C. More maternal less paternal inheritance
D. Equal maternal and paternal inheritance
E. Mitochondrial DNA is not inherited by the offspring
Q49. All the following are true regarding genomic imprinting except (p.185)
Q50. Which of the following is false regards diagnosis of single gene mutations (p.187-
189)
A. Indirect gene diagnosis is possible even without knowing the genetic sequence of
the genes of interest.
B. Direct gene diagnosis is possible by knowing the complete sequences of normal
and mutant genes.
C. Indirect gene diagnosis is done by RFLP, SNP, length polymorphisms
D. Direct gene diagnosis is more feasible than indirect detection.
E. Direct gene diagnosis is done by PCR analysis
A. Turner’s syndrome
B. Fragile X syndrome
C. Klinefelter’s syndrome
General pathology 2008-2009
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D. True hermaphroditism
E. Male pseudohermaphroditism
A. Turners female
B. Klinefelters male
C. True hermaphrodite
D. Male pseudohermaphrodite
E. Female pseudohermaphrodite
Q54. Which of the following genetic tests is most appropriate when the diseased gene has
been identified?
A. XY
B. XYY
C. XXY
D. XXX
E. XXXY
General pathology 2008-2009
Compiled by Bhupinder Bawa
1. C (Robbins 147)
2. D (Robbins 148)
3. B; (Robbins pp 148-149)
4. C; (Robbins pp 149)
5. E (Robbins p.148) Nonconservative missense mutation is a point mutation within a
coding sequence that changes function of a protein
6. E (Robbins p.150) Autosomal dominant disorders typically affect structural proteins
since 50% of enzyme activity can be compensated for (heterozygotes have 50%
activity). Autosomal recessive (homozygous for defective gene) include almost all
inborn errors of metabolism
7. B (Robbins p.152) Affected males will not transmit disorder to his sons. Sons of
heterozygous females have a 50% chance of receiving the mutant gene
8. A (Robbins p.153) There will be a deficiency of the end product which may permit
overproduction of intermediates and their catabolic products
9. D (Robbins pp 149)
10. C (Robbins pp 150)
11. E (Robbins pp 151) individuals with new recessive mutations will be asymptomatic
heterozygotes
12. A; (Robbins pp 156)
13. A; (Robbins pp 157)
14. C- This EDS type occurs because of a defect in lysyl hydroxylase, an enzyme
required for production of hydroxylysine, which can then be cross-linked to form
normal collagen
15. E (Robbins pp 158)
16. D (Robbins pp 157); IDL and LDL both use the LDL receptor which is defective in
familial hypercholesterolemia)
17. C
18. B
19. E (Robbins pp 154) Mutations that affect structural proteins are autosomal dominant
20. E (Robbins pp 155) Many mutations in the biosynthesis of collagen are described.
Those affecting structural collagen genes are autosomal dominantly transmitted, and
those affecting enzymes necessary for post-transcriptional modifications are
autosomal recessively transmitted.
21. D (Robbins pp 157)- Although many cells possess LDL receptors, 70% of plasma
LDL is cleared by the liver
22. C (PBVD pp 929)
23. C
24. D (Bovine and feline only) (PBVD p.929)
25. E (PBVD p 928)
26. C (PBVD p. 929)
27. D (PBVD p. 928)
28. A (PBVD p. 928)
General pathology 2008-2009
Compiled by Bhupinder Bawa
29. E (Robbins pp 160)
30. D (PBVD p. 928) (CNS is affected by both)
31. C (Robbins p. 159)
32. D (Robbins p. 160)
33. B (Robbins p. 163)
34. C (Robbins p.164)
35. B
36. D (Robbins P. 169)
37. D (Robbins P. 173)
38. E (Robbins P. 170)- A range of levels of severity of a disease suggests multifactorial
inheritance, but variable expressivity (phenotypic variations with the same mutation)
and reduced penetrance (inherited the mutation but are phenotypically normal).
Pleotropism is when a single mutation leads to many phenotypic changes.
Codominance is when both alleles of a gene pair are fully expressed
39. C (Robbins P. 170)
40. E (Robbins P. 173)- Diploid minus 1 (usually fatal before birth)
41. C-(Robbins P. 178) They are often difficult to diagnose at birth, and many are
recognized at puberty.
42. C (Robbins 173)
43. C (Robbins 174)
44. A p929 PBVD. α-Mannosidosis is a disease of Cattle (Angus, Murry Gray,
Galloway), and Persian cats. Β-Mannosidosis is a disease of Nubian goats and Saler
cattle.
45. B p159 Robbins. Deficiencies of these enzymes result in acucmulations of GM1 and
GM2 gangliosides which are found in the highest concentrations in the brain.
46. C (Robbins pp 181)
47. E (Robbins pp 181)
48. B (Robbins pp 185)
49. C (Robbins pp 185)
50. E (Robbins pp 187-189)
51. C (Robbins p. 179) XXY genotype is the most common in both human Klinefelter
patients and calico cats
52. E (Robbins p. 181)
53. B (Robbins p. 185)
54. A (Robbins p. 191) The others are indirect linkage analyses and are used when the
diseased gene is caused by multiple different mutations
55. D
Robbins 5
A) IDL uses hepatic LDL receptor for transport into the liver.
B) There is impaired IDL transport into the liver.
C) There is decreased synthesis of LDL.
D) Heterozygotes possess only 50% of normal high affinity of LDL.
E) There is greater divergence of IDL into the precursor pool for plasma LDL.
Answer: C
The following are involved in enzyme deficiencies associated with glycogen storage
disease EXCEPT: ( P166)
Answer : E
The glycosaminoglycans that accumulate in MPS are the following EXCEPT: (P165)
A) Dermatan sulfate
B) Melano sulfate
C) Chondroitin sulfate
D) Heparan sulfate
E) Keratan sulfate
Answer: B
A) 1,2,5
B) 1,3,4
C) 1,4,5
D) 2,3,4
E) 2,4,5
Answer: B
A) 1,2,5
B) 1,3,4
C) 1,3,5
D) 1,4,5
E) 2,3,4
Answer: B
Globoid cell leukodystrophy is a storage disease that causes the death of which of the
following cells?
A) Neurons
B) Microglia
C) Astrocytes
D) Macrophages
E) Oligodendrocytes
A) Acid lipase
B) α-Fucosidase
C) α-Mannosidase
D) β-Galactosidase
E) Galactosylceramidase
Lysosomal storage diseases can result from all of the following EXCEPT?
The following are true regarding the various classifications of Ehlers-Danlos Syndrome
except:
A) Vascular type is due to defect in COL3A gene
B) Mutations of FBN1 gene is most common form
C) There is skin and joint hypermobility in classical form
D) Dermatosparaxis is due to defect in Procollagen N-peptidase gene
E) Mutations on gene coding for Lysyl-hydroxylase cause collagen instability
A) 1,2
B) 1,3
C) 2,3
D) 2,4
E) 2,5
A) 1,2,3
B) 1,3,5
C) 1,4,5
D) 2,3,4
E) 2,4,5
The following are single gene disorders with non-classical inheritance except:
A) Triplet repeat mutations
B) Mitochondrial gene mutations
C) Autosomal recessive disorders
D) Disease associated with genomic imprinting
E) Disorders associated with gonadal mosaicism
Answer: C page181
General pathology 2008-2009
Compiled by Bhupinder Bawa
A) 1,2
B) 2,3
C) 2,4
D) 2,5
E) 3,4
The following consequences may occur from defective enzymes due to mutations except:
A) Decreased breakdown of intermediate substrates in metabolic pathways
B) Overproduction of intermediate substrates in metabolic pathways
C) A metabolic block with decreased amount of end product
D) Failure to inactivate tissue damaging substrate
E) A reduction in receptor mediated endocytosis
Answer: B pg 147-148
General pathology 2008-2009
Compiled by Bhupinder Bawa
Two breaks in a chromosome followed by loss of the material between the breaks and
fusion of the broken chromosomal ends is defined as the following:
A) Trisomy
B) Monosomy
C) Translocation
D) Ring chromosome
E) Interstitial deletion
A. 1, 2, 4
B. 1, 4
C. 2, 3
D. 3, 5
E. 4
Answer: B
A. COL3A1
B. Lysly-hydroxylase
C. COL1A1, COL1A2
D. COL5A1, COL5A2
E. Procollagen N-peptidase
Answer: E pg 156
Point mutations within a coding sequence may cause all of the following except:
A) Amino acid replacement with major change in protein function
B) Amino acid replacement with little change in protein function
C) Alter the code in a triple of bases
D) Premature termination of gene translation
Total lack of gene transcription
General pathology 2008-2009
Compiled by Bhupinder Bawa
An autosomal dominant disorder that is expressed in all individuals that carry the gene
but is expressed differently among individuals is best defined as the following:
A) Reduced penetrance
B) Variable expressivity
C) Recessive-dominant disorder
D) Genome mutation
Answer: B
A= trait not in every individual D= severe mutation
All of the following enzyme deficiencies directly affect the central nervous system
except:
A) β-galactosidase
B) α-Mannosidase
C) β-hexosamanidase
D) Sphingomyelinase
E) Glucose-6-phosphate
Answer: E =liver and muscle because glycogen storage disease page 166
1) TLR4
2) CD14
3) Lipoteichoic acid
4) Lipopolysaccharide
5) Lipopolysaccharide binding protein
A) 1, 2, 3, 4, 5
B) 1, 2, 4, 5
C) 1, 4, 5
D) 1, 4
E) 4, 5
A) 1, 2, 3, 4, 5
B) 2, 3, 4, 5
C) 3, 4, 5
D) 4, 5
E) 3, 5
A) Marfan syndrome
B) Neurofibromatosis
C) Ehler-Danlos syndrome
D) Osteogenesis imperfecta
General pathology 2008-2009
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E) Glycogen storage disease
1) Osteogenesis imperfecta
2) Epidermolysis bullosa
3) Cutaneous asthenia
4) Marfan syndrome
5) Alport syndrome
A) 1, 2, 3, 4, 5
B) 1, 2, 3, 5
C) 1, 2, 3
D) 3, 5
E) 3
1) Histological section of brain from a dog suffering from neurological disorder showed
large swollen vacuolated neurons. The most likely possibilities are;
A) 1, 3, 4, 5
B) 2, 3, 4, 5
C) 1, 3, 4
D) 2, 3, 4
E) 3, 4
1) Glucose-6-phosphatase
2) Glucocerbrosidase
3) Spingomyelinase
4) αL-iduronidase
General pathology 2008-2009
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5) Acid maltase
A) 1, 2, 3, 4, 5
B) 2, 3, 4, 5
C) 2, 3, 4
D) 2, 3, 5
E) 2, 3
6. Glucokinase
7. Acid maltase
8. α-glucosidase
9. Phosphoglucomutase
10. Glucose-6-phosphatase
A. 1, 2
B. 2
C. 2, 3
D. 3, 4
E. 4, 5
Answer: C
A. α-Mannosidase
B. β-Mannosidase
C. β-Galactosidase
D. β-Hexosaminidase
E. Galactosylceramidase
GM1 also affects: Beagle, English springer spaniel, Portuguese water dog, Alaskan
huskie, Siamese, domestic short hair cats, and Coopworth-Romney sheep.
General pathology 2008-2009
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If one arm of a chromosome is lost and the remaining arm is duplicated, this phenomenon
leads to (p 174):
Answer: D
A) 1,2
B) 1,3
C) 2,3
D) 2,4
E) 3,5
Answer: A
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A. trisomy
B. chimera
C. mosaicism
D. monosomy
E. deletion syndrome
Answer: B
A. normal ovaries
B. normal testicles
C. genetic sex of XX
D. male external genitalia
E. vestigial wolffian ducts
Answer: B pg 181
Small deletions or insertions involving the DNA coding sequence that lead to alterations
in the reading frame of the DNA strand are called: (p. 149)
A) point mutations
B) missense mutations
C) nonsense mutations
D) frameshift mutations
E) trinucleotide repeat mutations
Answer: D
Inheritance of a mutant gene with normal phenotypic expression is referred to as: (p.
150)
A) reduced penetrance
B) complete penetrance
C) variable expressivity
D) loss of function mutation
E) gain of function mutation
Answer: A
Answer: A p 156
Marfan syndrome results from an inherited defect in which one of the following
extracellular matrix proteins? (p. 154)
A) elastin
B) laminin
C) fibrillin-1
D) proteoglycan
E) type IV collagen
Answer: C
Which one of the following types of collagen is associated with classical Ehlers-Danlos
syndrome? (p. 104, 156)
A) type I
B) type III
C) type IV
D) type V
E) type VII
Answer: D
1) Lysosomal storage diseases may develop due to all of the following defects except?
Answer: d p. 160
a) acid malatase
b) α-1-iduronidase
c) Muscle phosphorylase
d) Homogentisic oxidase
e) Glucose-6-phosphatase
Answer: e p. 166
Which one of the following enzymes is not associated with a glycogen storage disease?
(p. 166)
A) phosphorylase
B) pyruvate kinase
C) phosphofructokinase
D) glucose-6-phosphatase
E) liver phosphorylase kinase
Answer: B
Two breaks within a chromosome arm, loss of chromatin material, and fusion of the
broken ends is called (p. 174)
A) terminal deletion
B) interstitial deletion
C) paracentric inversion
D) pericentric inversion
E) balanced reciprocal translocation
Answer: B
Which one of the following statements about sex chromosomes is FALSE? (p. 178)
A) the Xist gene is active in the active X chromosome
B) little genetic material is carried on the Y chromosome
C) inactivation of either the maternal or paternal X occurs at random
D) only one X chromosome is genetically active in cells of the blastocyst
E) inactive X can be seen as a dark staining chromatin body (Barr body) in contact
with the nuclear membrane