General pathology 2008-2009

Compiled by Bhupinder Bawa

Q1. Trisomy is an example of a

A. Chromosome mutation
B. Frameshift mutation
C. Genome mutation
D. Gene mutation
E. Point mutation

Q2. The loss of a single base in a sequence is an example of a (Robbins 148)

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?

A. Trinucleotide repeat mutation

B. Frame-shift mutation
C. Non-sense mutation
D. Point mutation
E. None of the above

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

Q6. Which of the following is not characteristic of autosomal dominant disorders?

A. One parent is usually affected
B. Age of onset is typically delayed
C. Reduced penetrance is common
D. Disorders are manifested in the heterozygous state
E. Typically involves mutations in genes coding for enzyme proteins
 General pathology 2008-2009
Compiled by Bhupinder Bawa

Q7. All of the following are characteristics of X-linked recessive disorders except..

A. Daughters of affected males will be carriers

B. An affected male will transmit the disease to his sons
C. Hemophilia A&B and Duchenne muscular dystrophy are examples
D. Heterozygous females usually don’t express the full phenotypic changes
E. Random inactivation of one X chromosome in females leads to partial expression
of disorder

Q8. Which of the following is not a consequence of mutations leading to enzyme

defects?
A. Accumulation of product
B. Accumulation of substrate
C. Accumulation of intermediates
D. Loss of product negative feedback
E. All are possible consequences

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:

A. 50% of people with the mutation will die prematurely

B. 50% of those who carry the mutant gene will die prior to birth
C. 50% of those who carry the mutant gene are phenotypically normal
D. Clinical signs are 50% less severe in heterozygotes compared to homozygotes
E. None of the above

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

Q12. Dermatosparaxis is caused by mutation in?

A. Procollagen N-peptidase gene

 General pathology 2008-2009
Compiled by Bhupinder Bawa
B. Lysyl hydroxylase gene
C. Type III collagen gene
D. Type I collagen gene
E. None of the above

Q13. Lipolysis of VLDL by lipoprotein lipase to extract triglycerides occurs in what

organ?

A) Adipose tissue and muscle

B) Adipose tissue only
C) Muscle only
D) Liver
E) None of the above

Q14. The kyphoscoliosis type of Ehrlos-Danlos Syndrome results from:

A. Defective production of type III collagen

B. Abnormal Golgi function leading to aberrant packing of procollagen
C. Defective hydroxylation of lysine residues during collagen synthesis
D. Mutations in genes encoding peptidases that cleave procollagen to collagen
E. Mutations causing abnormal N-terminal peptides of procollagen that are resistant
to cleavage

Q15. Familial hypercholesterolemia occurs due to a defect in:

A. Recycling of the LDL receptor
B. Transport of the LDL receptor to the cell surface
C. Binding of the LDL receptor the the cell membrane
D. Synthesis of the LDL receptor at the ribosomal level
E. All of the above

Q16. Familial hypercholesterolemia will cause an increase in the plasma concentrations

of
A. IDL
B. LDL
C. VLDL
D. A & B
E. All of the above

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
Compiled by Bhupinder Bawa
Q18. Which of the following about autosomal recessive disorders is FALSE

A. Siblings are only affected

B. Single allele in a gene locus is mutant
C. Both alleles in a gene locus are mutants
D. Genetic inheritance rate is one out of four
E. Cause for most inborn metabolic disorders

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

Q20. Which of the following is false regarding Ehlers-Danlos Syndromes?

A. Leads to hyperextensible skin and hypermobile joints
B. Can be transmitted by autosomal dominant inheritance
C. Can be transmitted by autosomal recessive inheritance
D. Results from defects in the synthesis or structure of fibrillar collagen
E. All are true

Q21.Which is false regarding cholesterol metabolism?

A. VLDL’s are produced by the liver

B. IDL’s are the major source of plasma LDL’s
C. The LDL receptor binds to both IDL’s and LDL’s
D. Approximately 70% of the plasma LDL’s are cleared by adipocytes
E. Monocytes and macrophages have receptors for chemically altered (acetylated or
oxidized) LDL

Q22. Which of the following enzymes is deficient in GM1 gangliosidosis?

A. α-Mannosidase
B. β-Mannosidase
C. β-Galactosidase
D. β-Hexosaminidase
E. Galactosylceramidase

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
Compiled by Bhupinder Bawa
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

Q25. Lysosomal storage diseases occur as a result of which of the following.

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

Q28. GM1 and GM2 gangliosidosis is not found in (PBVD 929)

A. Equine
B. Bovine
C. Canine
D. Feline
E. Ovine
 General pathology 2008-2009
Compiled by Bhupinder Bawa

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

Q30. α and β mannosidosis differ by

A. Organ affected
B. Species affected
C. Deficient enzyme
D. B&C
E. All of the above

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

Q32. A defect in β-Hexosaminidase leads to which lysosomal storage disease?

A. α-Mannosidosis
B. β-Mannosidosis
C. GM1 Gangliosidosis
D. GM2 Gangliosidosis
E. Glycogen storage disease

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
Compiled by Bhupinder Bawa

Q35. Which of the following chromosomal aberration results in loss of chromosome?

A. Reciprocal translocation
B. Ring chromosome
C. Isochromosome
D. Inversions
E. None of the above

Q36. Multifactorial disorders result from

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

Q37. The common causes of aneuploidy are

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

Q39. The study of chromosomes is called…

A. G Banding
B. Genotyping
C. Karyotyping
D. Phenotyping
E. Chromosomology

Q40. Monosomy is which aneuploid number of chromosomes?

A. n
B. n+1
C. n-1
D. 2n+1
E. 2n-1
 General pathology 2008-2009
Compiled by Bhupinder Bawa

Q41. Which is false regarding sex chromosomal disorders?

A. Xist is the gene that controls X inactivation

B. Inactive X chromosomes are called Barr bodies cytologically
C. Sex chromosomal disorders typically cause severe birth defects
D. Inactive X chromosomes are important for growth and development
E. Y chromosomes determine male sex regardless of the number of X chromosomes

Q42. Autosomal monosomy would likely result in

A. Early term abortion

B. Late term abortion
C. Failure of embryogenesis
D. Full term neonate with a single defect
E. Full term neonate with multiple defects

Q43. Which of the following results in a loss of chromosomal material?

A. Pericentric inversion
B. Paracentric inversion
C. Centric fusion translocation
D. Balanced reciprocal translocation
E. None of the above

Q44. Persian cats with abnormal accumulation of mannose-containing oligosaccharides

have a dysfunction in which of the following?

A. α-Mannosidase
B. β-Mannosidase
C. α-Galactosidase
D. Sphingomyelinase
E. β-Hexosaminidase

Q45. Deficiencies of β-Galactosidase or β-Hexosaminidase are affected mostly by lesions

in which of the following tissues?

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
Compiled by Bhupinder Bawa
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

Q48. A mitochondrial DNA is transferred t o the offspring via (p.185)

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)

A. Maternal imprinting is transcriptional silencing of maternal allele

B. Paternal imprinting is transcriptional silencing of paternal allele
C. Genomic imprinting occurs on sex chromosome
D. Genomic imprinting occurs on any chromosome
E. Genomic imprinting occurs in non-somatic cells

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

Q51. A male calico cat has which genetic abnormality?

A. Turner’s syndrome
B. Fragile X syndrome
C. Klinefelter’s syndrome
 General pathology 2008-2009
Compiled by Bhupinder Bawa
D. True hermaphroditism
E. Male pseudohermaphroditism

Q52. An animal with ovaries and male external genitalia is considered a…

A. Turners female
B. Klinefelters male
C. True hermaphrodite
D. Male pseudohermaphrodite
E. Female pseudohermaphrodite

Q53. Which is false regarding mitochondrial gene mutations?

A. Spermatozoa contain very little, if any, mitochondria

B. Mendelian inheritance applies to mitochondrial genes
C. Tissues may contain both wild-type and mutant mitochondrial DNA
D. Mutations typically affect tissues dependent on oxidative phosphorylation
E. Both a and b

Q54. Which of the following genetic tests is most appropriate when the diseased gene has
been identified?

A. Direct gene analysis

B. Site polymorphism analysis
C. Length polymorphism analysis
D. Single nucleotide polymorphism analysis
E. Restriction fragment length polymorphism analysis

Q55. Which following set of chromosomes will not result in a male

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

Which of the followings is true?

a. Mosaicism is an mitotic errors in early development that gives rise to 2 or more

populations of cells in the same individual
b. Nondisjunction during gametogenesis results in either an extra chromosome or
one less chromosome in the gametes
 General pathology 2008-2009
Compiled by Bhupinder Bawa
c. Anaphase lag results in one normal cell and one cell with monosomy
d. Euploid is any exact multiple of the haploid
e. All of the above

Answer e ref. p173

All of the followings are true, EXCEPT

a. Deletion refers to loss of a portion of a chromosome

b. Inversion refers to a rearrangement that involves two breaks within a single
chromosome with inverted reincorporation of the segment
c. Isochromosome formation results in a chromosome consisting of two short arms
only or of two long arms.
d. Translocation refers to a segment of one chromosome is transferred to another
e. A ring chromosome is a special form of translocation

Answer e ref. p174

Which of the following does not follow classic mendelian principles?

a. Disease caused by triplet-repeat mutations

b. Disorders caused by mutations in mitochondrial genes
c. Disorders associated with genomic imprinting
d. Disorders associated with gonadal mosaicism
e. All of the above

Answer e ref. p181

All of the followings are true, EXCEPT

f. Restriction fragment length polymorphism analysis is an indirect detection

technique for mutant gene
g. Length polymorphism analysis is an indirect detection technique for mutant gene
h. Direct detection of a gene mutation is possible if the mutant gene and its wild type
have been identified
i. Direct detection of a gene mutation is more feasible than indirect detection.

Answer d ref. p189-191

Which of the following is incorrect concerning Familial Hypercholesterolemia?

(P157-158)
 General pathology 2008-2009
Compiled by Bhupinder Bawa

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)

A) Lysosomal acid maltase

B) Debranching enzyme (III)
C) Liver phosphorylase kinase
D) Branching enzyme (IV)
E) Glucose -1- phosphatase

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

Which of the following are INCORRECT concerning karyotyping? ( P 170)

1) To provide a chromosome spread, the dividing cells are arrested in anaphase by

use of mitotic spindle inhibitors.
2) In metaphase spread, the individual chromosomes take the form of two
chromatids connected at a centromere.
3) H-banding allows identification of each individual chromosome on the basis of a
distinctive and reliable pattern of alternating light and dark bands along the length of the
chromosome.
 General pathology 2008-2009
Compiled by Bhupinder Bawa
4) A major limitation of karyotyping is that it is only applicable to cells that are not
dividing.
5) Results obtained by banding techniques can be dramatically improved by
obtaining cells in prophase.

A) 1,2,5
B) 1,3,4
C) 1,4,5
D) 2,3,4
E) 2,4,5

Answer: B

Which of the following are INCORRECT concerning mutations in mitochondrial genes?

(page 185)

1) Mutations affect organs most dependent on anaerobic glycolysis.

2) Expression of disorders is quite variable.
3) Mitochondrial DNA is inherited via paternal inheritance.
4) Sons but not daughters transmit the mitochondrial DNA further to their progeny.
5) Diseases associated with mitochondrial inheritance occur rarely.

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

Answer: E Page #’s: 161, 1397

Which of the following enzymes are deficient in α-mannosidosis?

 General pathology 2008-2009
Compiled by Bhupinder Bawa

A) Acid lipase
B) α-Fucosidase
C) α-Mannosidase
D) β-Galactosidase
E) Galactosylceramidase

Answer: C Page #: 161

Lysosomal storage diseases can result from all of the following EXCEPT?

A) Lack of a transport protein

B) Lack of an enzyme activator protein
C) Lack of a substrate activator protein
D) Synthesis of a catalytically active enzyme
E) Defects in post-translational processing of the enzyme

Answer: D Page #: 160

The following are true regarding mutations except:

A) Point mutations can change an amino acid codon to a stop codon
B) Trinucleotide repeat mutations usually contain nucleotides Adenine and Thymine
C) Point mutations are the most common mutation associated with hereditary diseases
D) Frameshift mutation won’t occur with insertion of three or multiples of three base
pairs
E) Point mutation of non-coding sequences may interfere with binding of transcription
factors

Answer: B pages 147-149 (guanine and cytosine in repeat mutations)

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

Answer: B pages 154-156

The following are true regarding Tay Sachs disease except:

1) There is GM2 activator deficiency
2) The deficient enzyme is Hexosaminidase A
 General pathology 2008-2009
Compiled by Bhupinder Bawa
3) There is often massive splenic enlargement
4) GM2 gangliosides accumulate in many tissues
5) Neurons have lipid vacuolation microscopically

A) 1,2
B) 1,3
C) 2,3
D) 2,4
E) 2,5

Answer: B Pages 161-163

The following are true regarding Gaucher disease:

1) Deficiency in glucocerebrosidase
2) Inherited occasionally as x-linked recessive trait
3) There is a hepatic form and myopathic form of the disease
4) Gaucher cells accumulate in spleen, bone marrow and lymph nodes
5) There is accumulation of distended phagocytic cells with fibrillary type cytoplasm

A) 1,2,3
B) 1,3,5
C) 1,4,5
D) 2,3,4
E) 2,4,5

Answer: C pages 163-166

The following is true regarding aneuploidy:

A) Defined as change of structure of a chromosome
B) Occurs due to terminal deletions in chromosomes
C) Can be caused by non-disjunction or anaphase lag
D) Defined by cell with exact multiple of haploid number
E) Can not be detected with Fluorescence in situ hybridization (FISH)

Answer: C pages 172-174

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

The following are true regarding genomic imprinting except:

1) Imprinting may occur on any chromosome
2) Imprinting only occurs on sex chromosomes
3) Imprinting may selectively inactivate the paternal allele
4) Imprinting may selectively inactivate the maternal allele
5) There is no functional difference in genes derived from mother or father

A) 1,2
B) 2,3
C) 2,4
D) 2,5
E) 3,4

Answer: D pages 185-186

The following are true regarding frameshift mutations:

A) They occur due to a point mutation
B) They occur within noncoding sequences
C) They are a type of chromosome mutation
D) They occur due to deletion of 1,2, or 4 base pairs
E) They occur due to insertion of 3 or multiple of three base pairs

Answer: D page 149

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: E pages 153-154

The following are true regarding hermaphroditism and pseudohermaphroditism except:
A) A female pseudohermaphrodite is always XX
B) A hermaphrodite has both ovarian and testicular tissue
C) Genetic sex is determined by presence or absence of a Y chromosome
D) A male pseudohermaphrodite has testes but female or undifferentiated genitalia
E) A female pseudohermaphrodite has ovaries but abnormal internal and external
gentitalia

Answer: E page 181

Glycogenosis type 1 is due to deficiency in this enzyme:
 General pathology 2008-2009
Compiled by Bhupinder Bawa
A) α-glucosidase deficiency (Lysosomal acid maltase)
B) Amylo-1,6 glucosidase (debranching enzyme)
C) Glucose-6-phosphatase (G-6-Pase) deficiency
D) Glycogen branching enzyme
E) Phosphofructokinase

Answer: C page 166

The following are true regarding GM2 gangliosidosis except:

A) Clinical disease is due to cardiac affects
B) May be due to Hexosaminidase A deficiency
C) May be due to Hexosaminidase B deficiency
D) May be due to gangliosides activator protein deficiency
E) Causes accumulation of oil red O and sudan black + material in cytoplasm

Answer: A page 160-161

The following are true regarding Marfan syndrome except:

A) Due to mutations in FBN1
B) Due to inherited defect in fibrillin-1
C) Ectopia lentis is characteristic ocular lesion
D) Causes disorganized elastin in tunica media of aorta
E) Due to defect in synthesis or structure of fibrillar collagen

Answer: E page 154-155

The following are true regarding Dermatosporaxis (a form of Ehlers-danlos syndrome)

except:
A) Severe skin fragility is seen clinically
B) Due to abnormalities in type 3 collagen
C) Inherited as an autosomal recessive trait
D) Caused by mutation in the procollagen N-peptidase gene
E) Due to defect in conversion of type 1 procollagen to collagen

Answer: B page 156 type 3=vascular

All of the following are true concerning mutations except:

A. a single base substitution is a point mutation

B. a chromosome mutation may result in trisomy
C. frameshift mutations lead to alterations in the reading frame
D. a genome mutation involves loss or gain of whole chromosomes
E. amplification of a sequence of three nucleotides is a trinucleotide repeat mutation

Answer: B pg 147-148
 General pathology 2008-2009
Compiled by Bhupinder Bawa

Which of the following statements regarding cholesterol metabolisms is/are false? (p

156-158)

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

Answer: E page 174 more common than terminal deletion

1. Familial hypercholesterolemia results from mutations in the cholesterol receptor

gene.
2. Cholesterol suppresses cholesterol synthesis by inhibiting HMG CoA reductase.
3. Monocytes and macrophages have receptors for chemically altered LDL.
4. Cholesterol upregulates LDL receptor synthesis.
5. LDL binds to its receptor via ApoB-100.

A. 1, 2, 4
B. 1, 4
C. 2, 3
D. 3, 5
E. 4

Answer: B

Which of the following genes is defective in the dermatosparaxis form of Ehlers-Danlos

Syndrome?

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

Answer: E this would be mutation in non-cding area ie. in promoter sequence

A=nonconservative msissense B= conservative missense D=nonsense mutation

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

β-galactosidase=GM1 gangliosidosis-Holstein friesan, Beagle, English spirmger spaniel,

Portugese water dog, Siamese, DSH, Suffolk sheep
B) α-Mannosidase= alpha mannosidosis-Cattle and cats
C) β-hexosamanidase= GM2 gangliosidosis-German Short haired pointer, Japanes
spaniel, DSH, Korat cat and Yorkshire pig
D) Sphingomyelinase-disruption of normal myelin

Marfan is characterized by the following defect:

A) Mutation in procollagen-N-peptidase
B) Lack of hydroxylation of procollagen
C) Strucutrally abnormal pro α 1 collagen chains
D) Disruption of assembly of normal microfibrils
E) Decreased number of receptors that recognize ApoE and Apo B-100

Answer: D defect in foibrillin 1 gene

A)=Ehlers danlos
B=scurvy
C= Ehlers danlos
E= hypercholesterolemia
Page 154-158
1. The following are involved in gram-negative bacteria induced septic shock
 General pathology 2008-2009
Compiled by Bhupinder Bawa

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

Answer: page 97 PBVD

January 16, 2007 K. Janardhan

1) The following are true about autosomal dominant disorders;

1) Parents are usually not affected

2) Complete penetrance is common
3) Expression of defect tends to be more uniform
4) Expression of defect varies amongst population
5) With one parent is affected, every offspring has 50% chance of having autosomal
dominant disorder

A) 1, 2, 3, 4, 5
B) 2, 3, 4, 5
C) 3, 4, 5
D) 4, 5
E) 3, 5

2) An example for autosomal dominant disorder is

A) Lysosomal storage disease

B) Polycystic kidney disease
C) α-1 antitrypsin deficiency
D) Hemochromatosis
E) Wilson disease

3) An example for autosomal recessive disorder is

A) Marfan syndrome
B) Neurofibromatosis
C) Ehler-Danlos syndrome
D) Osteogenesis imperfecta
 General pathology 2008-2009
Compiled by Bhupinder Bawa
E) Glycogen storage disease

January 23, 2007 K. Janardhan

1. Genetic defects leading to defective fibrillar collagen formation occur in

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

Answer: pages 155 and 104

January 29, 2007 K. Janardhan

1) Histological section of brain from a dog suffering from neurological disorder showed
large swollen vacuolated neurons. The most likely possibilities are;

1) Autosomal dominant disorder

2) Autosomal recessive disorder
3) β-hexosamine-A deficiency
4) β-galactosidase deficiency
5) Galactosylceramidase

A) 1, 3, 4, 5
B) 2, 3, 4, 5
C) 1, 3, 4
D) 2, 3, 4
E) 3, 4

Answer: Page 160-161

2) Deficiency in the following enzymes results in lysosomal storage diseases;

1) Glucose-6-phosphatase
2) Glucocerbrosidase
3) Spingomyelinase
4) αL-iduronidase
 General pathology 2008-2009
Compiled by Bhupinder Bawa
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

Answer: Page 161

Reference on lysosomal storage diseases in animals;

Lysosomal storage diseases of animals: an essay in comparative pathology.
Vet Pathol. 1997 Nov;34(6):527-48. Review.

Which of the following enzyme deficiency leads to lysosomal storage of glycogen? (p

167)

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

Which of the following enzymes is deficient in GM1 gangliosidosis which is known to

Holstein-Fresian cattle and Suffolk sheep?

A. α-Mannosidase
B. β-Mannosidase
C. β-Galactosidase
D. β-Hexosaminidase
E. Galactosylceramidase

Answer: C PBVD pg. 929, Table 14-10

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
Compiled by Bhupinder Bawa
If one arm of a chromosome is lost and the remaining arm is duplicated, this phenomenon
leads to (p 174):

A. a paracentric inverted chromosome formation.

B. a pericentric inverted chromosome formation.
C. a ring chromosome formation.
D. an isochromosome formation.
E. a Robertsonian translocation.

Answer: D

The appearance of the external genitalia is defined by the following:

A) Ductal sex
B) Genetic sex
C) Pheontypic sex
D) Hermaphrodism
E) Pseudohermaphrodism

Answer: C page 181

All of the following are true regarding a true hermaphrodite

1) Very common condition
2) At least one gonad can be an ovotestes
3) Phenotypic sex does not match gonadal sex
4) One gonad can be testes and the other an ovary
5) Frequently due to complete androgen insensitivity syndrome

A) 1,2
B) 1,3
C) 2,3
D) 2,4
E) 3,5

Answer: D, 3=pseudohermaphrodite, 5=male psudohermaphrodite page 181

Which of the following statements regarding sex chromosomes is false? (p 178-181)

A. All of the genes on the inactive X chromosome are shut off.

B. The presence of a single Y chromosome determines the male sex.
C. Sex chromosome disorders are often difficult to diagnose at birth.
D. Male individuals with pseudohermaphroditism possess a Y chromosome.
E. Fragile-X syndrome is characterized by a long repeating sequence of three
nucleotides.

Answer: A
 General pathology 2008-2009
Compiled by Bhupinder Bawa

In cattle male-female twins often results in a non-fertile freemartin heifer which is an

example of which of the following?

A. trisomy
B. chimera
C. mosaicism
D. monosomy
E. deletion syndrome

Answer: B

A female pseudohermaphrodite will not have which of the following?

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

1) The kyphoscoliosis type of Ehlers-Danlos Syndrome results from which of the

following?
 General pathology 2008-2009
Compiled by Bhupinder Bawa

a) mutation in the gene encoding lysyl hydroxylase

b) abnormality of type III collagen
c) conversion of type I procollagen to collagen
d) abnormality of genes that indirectly affect collagen synthesis
e) none of the above

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?

a) Lack of an enzyme activator

b) Synthesis of a catalytically inactive protein
c) Defects in post-translational processing of the enzyme proteins
d) Attachment of mannose-6-phosphate residues to enzymes within the Golgi
e) Lack of a transport protein required for egress of the digested material from the
lysosomes

Answer: d p. 160

2) The hepatic type of glycogen storage diseases is caused by a deficiency in which

enzyme?
 General pathology 2008-2009
Compiled by Bhupinder Bawa

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

Answer: A (Xist gene is turned on in the inactive X and acts as a gene-silencer)