ENGAGE EASY (CYTOGENETICS)

1. As of date, how many single-gene defects are believed to exist?

*
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A. 20
B. 300
C.2500
D. 4000

2. DNA electrophoresis is based on:*

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A. Size
B. Charge
C. Both A & B
D. Neither A or B

3. Germline gene therapy could potentially correct a genetic defect in a(n):*

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A. Affected individual only

B. Affected individual and his or her offspring only
C. Affected individual and all of his or her descendants
D. Parent of an affected child

4. A mechanism of gene therapy involving the alteration of myoblasts could be used to treat: *
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A. Parkinson disease
B. Muscular dystrophy
C. Prostate cancer
D. Tay-Sachs disease

5. Which of the following is a preferred vector for transferring genes to nerve cells?*
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A. Adeno-associated viral vector

B. Herpes Simplex viral vector
C. Retroviral vector
D. Vaccinia vector
ENGAGE MEDIUM (CYTOGENETICS)
1. Which of the ff. statements best describes the process of gene therapy?*
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A. Functional genes are inserted into the reproductive cells in order to fix ailments in the next generation.
B. The chromosome with the faulty gene is replaced by a fully functional, working copy.
C. Viral vectors are used to replace nonfunctional genes with working copies.
D. All of the given choices

2. Which of the following is NOT used in DNA fingerprinting?*

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A. base sequence patterns that are unique to each individual

B. conserved DNA sequences that are found in the human genome
C. restriction fragment length polymorphisms
D. DNA electrophoresis

3. Which of the following statements is FALSE?*

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A. The phenotype is the gene composition of a living organism, and the genotype refers to how the genes are
expressed.
B. Alleles are different forms of a gene.
C. Heterozygous refers to when two different alleles are present for a particular characteristic.
D. Viral vectors are used to replace nonfunctional genes with working copies.

4. A genetic counselor meets with the parents of a 15-year-old girl who was recently diagnosed with
Turner syndrome. The parents do not want their daughter to be informed about her diagnosis
because they feel that it will upset her and they prefer to wait and tell her themselves when they think
that she is ready. Which of the following is the BEST approach by the counselor? *
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A. discuss strategies for talking about this diagnosis with girls her age
B. encourage the parents to join the local Turner syndrome support group
C. honor the parents' request because the patient is a minor
D. insist they share the diagnosis with their daughter as soon as possible

5. In recent years, researchers from China and the US have genetically modified a patient’s T-cells to
better see and kill cancer using what 21st century tool?*
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A. RNAi
B. CRISPR
C. ZFNs
D. TALENS
ENGAGE HARD (CYTOGENETICS)
1. 1st statement: Using gene therapy, a normal gene to replace a faulty gene is directly introduced
into a patient’s cells.

2nd statement: In gene therapy, commonly a carrier called a vector is genetically engineered to carry
and deliver the material.
*
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A. Only the 1st statement is true

B. Only the 2nd statement is true
C. Both statements are true
D. Both statements false

2. Researchers are developing off-the-shelf, allogeneic T cell therapies derived from unrelated donors
that could potentially treat hundreds or thousands of patients. What is a major hurdle of these
allogeneic therapies?*
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A. Graft-vs-Host disease
B. Costing
C. Cytokine storm
D. Delay in production

3. Cri-du-Chat syndrome is a disorder that affects babies and children and is characterized by
abnormalities in the development of the larynx, resulting in a peculiar cry that is distinctive in babies
or children with the syndrome. What causes Cri-du-chat syndrome?*
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A. Mutation in a single gene

B. Chromosomal abnormality
C. Environmental exposure to toxins
D. Unknown origin

4. In the case of recessive single gene disorders, both copies of the gene need to be altered for the
condition to develop. X-linked recessive disorders are therefore usually only found in males
because:*
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A. Males have only one X chromosome

B. Females do not have the Y chromosome
C. Males do not inherit mitochondrial DNA
D. Females will inherit the X chromosome from their mother

5. Which of the following are advantages of genetic counselling?

1. It can assess the risk of recurrence in the concerned family member and relatives.
2. Provide support groups that will help family members cope with the recurrence of a disorder.
3. It can alter the genome of unborn child to not have the genetic disorder detected.

*
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A. 1 only
B. 1,2
C. 1,3
D. 1,2,3

EVALUATE ACTIVITY
1. A 24-year-old man presents to your clinic with several concerning symptoms. He states that he has
uncontrollable movements called chorea, occasional stiffness, slurring of speech, difficulty planning
his day and balancing his checkbook, and bouts of anxiety and crying spells. He also professes that
this has been noted in some relatives on his mother’s side. What is true about the nature of the
molecular mutation of this disorder?
*
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A. A point mutation in a single gene

B. A nucleotide deletion in a single gene
C. A triplet repeat expansion within a gene
D. A frameshift mutation within a gene, creating a truncated protein

2. Which of the following is a single gene disorder?*

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A. Down Syndrome
B. Turner Syndrome
C. Cystic Fibrosis
D. Hypothyroidism

3. Which of the following are autosomal recessive single gene disorders?

1. Cystic fibrosis
2. Sickle cell anemia
3. Tay-Sachs disease
*
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A. 1 only
B. 2,3
C. 1,3
D. 1,2,3
4. Among the statements stated below which of these relates an autosomal dominant to an
autosomal recessive disorder?*
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A. Affected children are generally born to unaffected parents.

B. The disorder or trait typically skips one or more generation
C. Both males and females are affected equally.
D. Affected children have an affected parent.

5. A liposome is a tiny bubble (vesicle), made out of the same material as a cell membrane.
Liposomes can be filled with drugs, and used to deliver drugs for cancer and other diseases. Which of
the following is the key advantage of liposomes over viruses in gene therapy?*
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A. They can be incorporated into endosomes.

B. They do not cause a host immune response.
C. Unlike viral vectors, they allow DNA to enter the host cell nucleus.
D. They enter cells more efficiently than viruses.

6. A boy is born with an extra finger on one hand. Extra digits are known to be common in members
of the father's extended family, but not the mother's. The boy's two sisters have normal fingers. What
is the most likely explanation?*
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A. X-linked inheritance, since only males are affected.

B. Y-linked inheritance: Males inherit from their fathers.
C.The extra finger trait is autosomal dominant.
D. A spontaneous mutation occurred

7. What makes the central dogma of life the "fundamental principle of molecular genetics"?*
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A. It is concern with the patterns of inheritance and heredity from one generation to the next generation.
B. It summarize the pattern of inheritance of a specific phenotype.
C. It refers to approaches devised for the manipulation of genes.
D. It summarizes how the genetic information in DNA becomes expressed in the amino acid sequence in a
polypeptide chain.

8. Which of the following is correct about the Y chromosome?*

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A. In Lyon's hypothesis, male has only two Y chromosome.

B. The Y chromosome has a highly variable heterochromatic region on its long arm.
C. It has a gene controlling spermatogenesis, termed the spermatozemia factor.
D. Normal males have one Barr body.

9. Which of the following is correct about the X chromosome?*

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A. In Lyon's hypothesis, female has only one X chromosome.

B. Techniques for detecting the inactive X have been based on the fact that it is early replicating.
C. In somatic cells in females, only one X chromosome is active
D. Normal females have no Barr body.

10. A child appears short, broad skull, almond-shaped eyes that slant up, and excess skin on the
back of the neck. According to the doctor, the chromosome 21 of the child is present in three copies
having a chromosome number of 2n+1. What do you think is the condition of the child?*
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A. Down Syndrome
B. Patau Syndrome
C. Cri-Du-Chat Syndrome
D. Turner Syndrome
ENGAGE EASY (BIOCHEMISTRY)
1. Building blocks of protein is called:*
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A. Amino acid
B. Nucleic acid
C. Fatty acid
D. Polysaccharide

2. Carbohydrate group with 2 sugar units*

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A. Monosaccharide
B. Disaccharide
C. Polysaccharide
D. Complex carbohydrate

3. This predominates in dietary fats and oils and also occur in our body triglycerides.*
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A. Hydroxyl
B. Ester
C.Carbonyl
D.Phosphate

4. Glycogen is the storage form of glucose in the body. This substance is a :*

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A. Monosaccharide
B. Disaccharide
C. Both A & B
D. Neither A or B

5. Most predominant lipid in the body*

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A. Fatty acids
B. Triglycerides
C. Phospholipids
D. Lipoprotein
ENGAGE MEDIUM (BIOCHEMISTRY)
1. Which of the following amino acids has a net negative charge at physiologic pH (~7.4)?
*
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A. Lysine
B.Glutamic acid
C. Valine
D. Histidine

2. Which of the following molecules/substances doesn't belong to the group as to its diffusion
mechanism?*
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A. Oxygen
B. Carbon dioxide
C. Progesterone
D. Water

3. Which of the following is true regarding essential amino acids?*

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A. Types of amino acid that can be synthesized by the body

B. Amino acids that should be consumed in the diet
C. Both of the given choices
D. Neither choices are correct

4. Using the sequence L-A-R-S-E-T, the C-terminal amino acid of the hexapeptide is which one of the
following?*
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A. Threonine
B. Tryptophan
C. Leucine
D. Lysine

5. All but one of the following is/are bases of DNA*

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A. Thymine
B. Adenine
C. Guanine
D. Uracil
ENGAGE HARD (BIOCHEMISTRY)
1. Which of the following is true regarding lipids?

1. Insoluble in water
2. Soluble in water
3. Acts as a structural component of cell membranes
4. Long term energy storage
*
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1 only
2,4
1,3,4
1,2,3,4

2. Which of the following statements is false regarding buffer solutions?

*
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A. The pH of a buffer solution does not change on dilution

B. Buffer solutions do not have a definite pH
C. The pH of a buffer solution changes slightly on the addition of a small amount of acid or base.
D. The pH of buffer solution does not change on standing for long

3. A newborn girl is delivered after her mother had an uncomplicated 9-month pregnancy. The family
is concerned because their 10-year-old son has been diagnosed with cystic fibrosis and has already
developed several severe pulmonary infections requiring hospitalization. They request that their
pediatrician order a sodium chloride sweat test to determine whether their newborn daughter has the
disease. The disease is due to a defect in which of the following?*
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A. A peripheral membrane protein

B. A transmembrane protein
C. Increased cholesterol content of the lipid bilayers
D. An enzyme
E. The ability to glycosylate ligands for

4. A young infant, who was nourished with a synthetic formula, was found to have a serum and urine
sugar compound that yielded a positive reducing-sugar test but was negative when measured with
glucose oxidase. Treatment of the urine and serum with acid to cleave glycosidic bonds did not
increase the amount of reducing sugar measured. Which of the following compounds is most likely to
be present in this infant’s urine and serum?*
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A. Glucose
B. Fructose
C. Sorbitol
D. Maltose

5. Sickle cell disease results in abnormal hemoglobin formation because of a point mutation in DNA
that leads to the insertion of which amino acid into b-globin?*
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A. Glutamic acid
B. Tyrosine
C. Serine
D. Valine

EVALUATE ACTIVITY
1. A 3-week-old infant presents to your rural health center and appears ill; he is jaundiced and febrile
and has extensive, reddened skin. According to his mother, it appears that since the delivery of the
baby at home he has always ‘‘carried a fever.’’ You are able to send off some laboratory tests and are
surprised to see that he has significant neutropenia and hypergammaglobulinemia. What is the most
likely diagnosis?*
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A. DiGeorge syndrome
B. Severe combined immunodeficiency disease
C. Chediak-Higashi syndrome
D. Wiskott-Aldrich syndrome
E. Myeloperoxidase deficiency

2. Which of the following statements is correct

concerning prion disease?*
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A. It is a disease process in which proteins appear to be the sole pathophysiologic entity
B. It is a disease process in which a messenger RNA secondary structure appears to be the sole
pathophysiologic entity
C. The disease is only found in humans
D. Effective treatments are available for the disease
E. The disease process is readily reversible

3. Which of the following statements is/are false regarding proteins?

1. Protein contains Nitrogen

2. Monomers of protein are amino acids
3. A protein is synthesized in joining one or more amino acids.
4. A quaternary protein structure consist of a single chain amuno acid
*
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A. 4 only
B. 1,4
C. 2,3
D. 2,3,4
E. 1,2,3,4

4. All of the following are acidic amino acids, EXCEPT:*

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A. E
B. K
C. R
D. H

5. A 74-year-old man presents to the emergency room with lower gastrointestinal bleeding, bloating,
and cramping. He states that this has happened before and resolves in a day or two. On examination,
he has a low-grade fever, left lower quadrant tenderness to palpation, and guaiac-positive stools.
Blood work reveals leukocytosis and a normal hematocrit. A computed tomography scan is ordered
with oral and intravenous contrast and reveals numerous out-pouchings in his distal colon. Which of
the following is true about this condition?*
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A. Polysaccharides rich in b1,4 bonds of cellulose are a mainstay of treatment.
B. This patient has a digestive enzyme deficiency.
C. A biopsy of the lesions would reveal a malignant process.
D. This patient has gastroenteritis from a heat-stable protein.
E. These signs and symptoms are consistent with Clostridium difficile colitis

6. Which of the following statements is/are FALSE?

1. Foods that contain a lot of protein are called body-building foods

2. Food that contain a lot of fats & carbs with little protein are called energy-giving foods
3. Vitamins & minerals are called protective foods
4. Micronutrients include carbohydrates, fats and proteins
*
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A. I, II
B. I, II, III
C. I, II, III, IV
D. IV only

7. What is the common characteristic of maltose, starch, and glycogen?*

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A. Classified under homopolysaccharides

B. Examples of storage carbohydrates abundant in plants
C. All made up of glucose units arranged in a straight chain
D. Composed of glucose units joined via α 1-4 glycosidic bonding
8. Why is D-glucose the primary direct source of energy among the monosaccharides?*
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A. It can be easily stored in the liver, muscles as well as kidneys

B. It can be obtained from many sources & synthesized from many raw materials
C. It occurs in a cyclic conformation, thus, faster catabolism
D. It assumes an open structure that can easily be converted by enzyme

9. Monosaccharides include all of the following EXCEPT:*

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A. D-glucose
B. Glycerose
C. Amylose
D. L-galactose

10. What is the only carbohydrate utilized as a direct source of energy by the brain and
erythrocytes?*
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A. D-glucose
B. D-mannose
C. D-fructose
D. D-galactose