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Genetics and genomes > Genetics and Genome MCQ Part 2 > Flashcards

Genetics and Genome MCQ Part 2 Flashcards

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1
Q
  1. Which of the following is the description of an individual with cri-du-chat syndrome?
    a. 45, XY, 5p-
    b. 45, XY, 5q-
    c. 46, XY, 5p-
    d. 46, XY, 5q-
    e. 45, XY, -5
A

c. 46, XY, 5p-
= normal number (46) with deletion of short arm (p) of chromosome 5

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2
Q
  1. Several members of a family are affected by fragile X syndrome, a genetic disease involving varying degrees of mental retardation.
    A female (Female A) in the family is only slightly affected, having math difficulties. Her daughter (Female B) is slightly more affected, with a squared jaw, large head and required some minor assisted education in high school.
    Female B has a son (Male C) who is severely affected with fragile X syndrome, i.e. he has the characteristic face (large head, large ears), macro-orchidism and severe mental retardation.
    => This family represent an example of which genetic phenomenon?

a. Multifactorial inheritance
b. Anticipation
c. Autosomal recessive variability
d. Phenocopies
e. Locus heterogeneity

A

b. Anticipation (probably)

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3
Q
  1. How many genes cause Sickle cell anemia?
    a. Two genes
    b. At least 3 genes
    c. Geneticists do not know yet
    d. One gene
    e. Many genes
A

a. Two genes

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4
Q
  1. Which of the following mutations would cause a frameshift and this likely be the most detrimental?
    a. Substitution of 2 base pairs
    b. Deletion of 3 base pairs
    c. Insertion of 1 base pair
    d. Insertion of 3 base pairs
    e. Insertions of 15 base pairs
A

c. Insertion of 1 base pair

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5
Q
  1. RLFPs have been tremendously useful for genomic mapping studies because:
    a. They are found only in the coding sequence of genes
    b. They are found only in the promoter regions of genes
    c. They are found only in disease-causing genes
    d. They are not restricted to genes, and are abundantly scattered throughout the genome
    e. They are found only in expressed genes
A

They are not restricted to genes, and are abundantly scattered throughout the genome

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6
Q
  1. In meiosis, what is meant by a tetrad of homologous chromosomes?
A

Four chromatids in the unit

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7
Q
  1. Ectrodactyly is an autosomal dominant trait that causes missing middle finger (lobster-claw malformation). A grandfather and grandson both have ectrodactyly, but the intervening father has normal hands by X-ray. Which of the following terms would most appropriately apply to the trait in this family?

a. New mutation
b. Variable expressivity
c. Germline mosaicism
d. Reduced penetrance
e. Anticipation

A

d. Reduced penetrance

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8
Q
  1. Which of these statements about the difference between mitosis and meiosis is true?
    a. Meiosis begins with one chromatid per chromosome and mitosis begins with two
    b. DNA replication occurs between meiosis I and meiosis II, but DNA replication does not occur during mitosis
    c. The nuclear envelope breaks down in mitosis but not in meiosis
    d. Sister chromatids separate during mitosis and meiosis II, but not during meiosis I
    e. Mitosis involves spindle formation and meiosis does not
A

d. Sister chromatids separate during mitosis and meiosis II, but not during meiosis I

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9
Q
  1. Which of the following observations is the strongest evidence for an important genetic component in the causation of type-1 diabetes mellitus (IDDM)?
    a. Approximately 10% of affected individuals have an affected sibling
    b. Onset of disease is usually in childhood
    c. Pancreatic beta-cell autoantibodies are frequently present
    d. The concordance rate in monozygotic twins is approximately 30%
    e. The concordance rate in monozygotic twins is five times that in dizygotic twins
A

e. The concordance rate in monozygotic twins is five times that in dizygotic twins

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10
Q
  1. Which of the following is the molecular cause of xeroderma pigmentosum?
    a. A deficiency of the enzyme steroid sulfatase
    b. A deficiency of the enzyme tyrosinase
    c. Mutations in a transcription factor
    d. Mutations in the gene, encoding the protein fibrillin
    e. Mutations in a gene that repairs the damage to DNA caused by ultraviolet light
A

e. Mutations in a gene that repairs the damage to DNA caused by ultraviolet light

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11
Q
  1. Which type of chromosome abnormality is characteristic for the centric fusion
A

structural aberration

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12
Q
  1. Which is not true for the structural chromosome aberrations?
    a. Occur during mitosis
    b. Caused by abnormal crossing over
    c. Result from chromosomal breakages
    d. One or more extra copy of chromosome is in the cell
    e. Terminal deletion is one of the types of structural chromosome aberrations
A

d. One or more extra copy of chromosome is in the cell
(aneuploidy)

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13
Q
  1. Which is true in connection with the spermatogenesis?
    a. In the pachytene the homologous chromosomes are bound closely together by synaptonemal complex
    b. Meiosis is arrested at the first meiotic propohase
    c. Meiosis (I and II) produce one sperm cell and three polar bodies
    d. Cyclic events stimulated by hormones
    e. DNA replication happens between meiosis I and II
A

b. Meiosis is arrested at the first meiotic propohase

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14
Q
  1. Which is true in connection with the ovogenesis? (oogenesis)
    a. Continues events after puberty
    b. Ovogenesis produces four matured ococytes (oocytes)
    c. DNA replication happens before meiosis I
    d. The genetic information of the germ cells is equal
    e. The crossing over occur during meiosis II
A

c. DNA replication happens before meiosis I

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15
Q
  1. What does it mean normal karyotype?
    a. Chromosome number of the germ cells
    b. Species / individual specific number of chromosome
    c. The structure of one chromosome
    d. The ratio of euchromatin to heterochromatin
    e. The number of DNA molecules in every type of cells
A

b. Species / individual specific number of chromosome

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16
Q
  1. DNA replication is said to be semiconservative. This mean that
    a. half of the old strand is degraded and half is used as a template for the replication of a new strand
    b. one of the two resulting double helices is made of two old strands and the other is made of 2 new strands
    c. the old double helix is degraded and half of its nucleotides are used in the construction of two new double helices
    d. one strand of the double helix is made of DNA and the other strand is made of RNA
    e. Each new double helix consist of 1 old and 1 new strand
A

e. Each new double helix consist of 1 old and 1 new strand

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17
Q
  1. Which cytoskeletal component play a crucial role in cytokinesis?

Intermediate filaments
Kinetochore microtubules
Astral microtubules
Actin and myosin filaments
Centrioles

A

Actin and myosin filaments

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18
Q

Which stage of meiosis is the physical basis for Mendel’s law of independent assortment?

Prophase I
Anaphase I
Telophase I
Metaphase I
Telophase II

A

Anaphase I

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19
Q

The role of acrosome during fertilization process is to

a. Increase the sperm motility
b. Direct the sperm to the egg
c. Contain enzymes that help a sperm head digest its way into an egg
d. Contain chromosome
e. Store energy for swimming to the egg

A

c. Contain enzymes that help a sperm head digest its way into an egg

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20
Q
  1. Which method should be used to determine the risk of a child for Huntingtons disease in an affected family?

Western blot
RT-PCR
VNTR based southern blot
Northern blot
SNP based Southern blot

A

VNTR based southern blot

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21
Q
  1. Why is the use of MGG staining advantageous for blood smears and tissue

a. Because it is a simultaneous staining
b. Because it is a successive staining
c. Because it does not require embedding
d. Because it involves fixation and dehydration (beyond staining)
e. Because it does not require sectioning of the specimen

A

d. Because it involves fixation and dehydration (beyond staining)

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22
Q

In a healthy two years old boy, what phase the gametogenesis can be found?

a. Primary spermatocyte
b. spermatids
c. secondary spermatocyte
d. spermatogonium
e. none of them

A

d. spermatogonium

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23
Q
  1. What step is involved in the block of polyspermy?

Ca ion increase in sperm
Acrosome reaction
Ca ion increase in secondary oocyte
Ca ion increase in primary oocyte
Capacitation

A

Ca ion increase in secondary oocyte

24
Q
  1. Down syndrome results from:

a. The absence of one chromosome in position 21
b. The presence of an extra chromosome in position 21
c. The absence of both chromosome in position 21
d. Crossing over on the chromosome in position 21
e. None of the above

A

b. The presence of an extra chromosome in position 21

25
Q
  1. What is not true for the cell cycle regulation?
    a. The SPF triggers the S phase
    b. The inhibitory phosphate is removed by activating kinase
    c. One of the substrates of MPF is a phosphatase
    d. The MPF is the complex of a cycline dependent kinase and the M (B) cycline
    e. The SPF is the complex of a cycline dependent kinase and the G1 (A) cyclin
A

b. The inhibitory phosphate is removed by activating kinase

26
Q
  1. Which proteins are encoded by tumor suppressor genes?
    a. The promote of the growth of tumor
    b. cyclins
    c. cycline dependent kinase inhibitors
    d. growth factor receptors
    e. cyclin dependent kinases
A

c. cycline dependent kinase inhibitors

27
Q
  1. What is true about kinetochore?

a. It is a component of the centrosome
b. It induces chromosome condensation
c. It contains a conservative DNA sequence
d. It is a protein complex added to the centromere region of chromosomes
e. In meiosis I each sister chromatid has one

A

d. It is a protein complex added to the centromere region of chromosomes

28
Q
  1. What is characteristic for a protooncogene or gene product?
    a. It can be involved in signaling pathway of growth factors
    b. It can inhibit cell proliferation
    c. Its gene is found in one copy in every cell
    d. One example is retinoblastoma protein (pRb) tumor suppressor
    e. It can be a cyclin dependent kinase inhibitor
A

a. It can be involved in signaling pathway of growth factors

29
Q
  1. Choose the correct statement for cell cycle

a. There are two checkpoints in the standard cell cycle
b. Phases and regulation of early embryonic and multicellular (mammalian) cell cycle are the same
c. M-phase is completed after the inactivation of MPF
d. Cdk of active MPF has two phosphorylated amino acids
w. Cell cycle is inhibited by oncogenes

A

c. M-phase is completed after the inactivation of MPF

30
Q
  1. What is the characteristic feature of apoptosis?
    a. Induction kinases
    b. Translocation of phosphatidyl inositol from outer to inner phospholipid bilayer
    c. Swelling of cells
    d. Random fragmentation of DNA
    e. Translocation of phosphatidylserine from inner to outer phospholipid bilayer
A

e. Translocation of phosphatidylserine from inner to outer phospholipid bilayer

31
Q
  1. Which one of the following statements provides the best reason that genetic polymorphism are clinically important?
    a. They can be used as genetic markers in linkage studies
    b. They often cause chromosomal rearrangements
    c. They are usually in linkage disequilibrium with disease genes
    d. They are valuable vectors in gene therapy
    e. They cause a variable number of tandem repeats (VNTRs) that are important in tissue transplant
A

a. They can be used as genetic markers in linkage studies

32
Q
  1. Differences between meiosis and mitosis include all of the following EXCEPT

a. Meiosis results in a reduction of chromosome number in the cell from 46 to 23, while mitosis does not result in a change in chromosome number
b. Each mitotic cell division and each second meiotic division is preceded by a complete round of DNA synthesis
c. All somatic cells undergo mitosis, but meiosis is restricted to germ cells
d. Recombination is much more common in meiosis than in mitosis
e. Chromosome pairing (synapsis) occur in meiosis but not in mitosis

A

b. Each mitotic cell division and each second meiotic division is preceded by a complete round of DNA synthesis

33
Q

All of the following statements regarding genetic mutations are true EXCEPT

a. Mutations underlying most genetic diseases are known
b. Major rearrangements are, in general, uncommon causes of mutation
c. Deletions are common causes of mutations in Duchenne muscular dystrophy (DMD)
d. The majority of Jewish persons with Tay-Sachs disease have the same mutation
e. The majority of persons with cystic fibrosis (CF) have the same mutation

A

a. Mutations underlying most genetic diseases are known

34
Q

Multifactorial diseases include, except:

a. Autoimmune diseases
b. Psychiatric disease
c. Ecogenetic disease
d. Congenital birth defects
e. High blood pressure

A

c. Ecogenetic disease

35
Q
  1. Find the mismatch:
    a. ELISA- expression of protein level
    b. ELISA – detection proteins in solution
    c. ELISA – Diagnostical method for infectious disease
    d. ELISA – detection of cell surface molecules
    e. ELISA – enzyme linked immunosorbent assay
A

d. ELISA – detection of cell surface molecules

36
Q
  1. To test that the mRNA encoding the morphogenic protein (Ie. Biocid) is localized at the anterior tip of early Drosophila embryo we use the technique:
    a. In situ hybridization
    b. immunochemistry
    c. northern blotting
    d. southern blotting
    e. polymerase chain reaction
A

a. In situ hybridization

37
Q

141.What is immunocytochemistry?

a. It involves identification of cells of the immune system using chemical methods
b. It involves detection of specific enzymes of the immune system by their catalyzed reaction
c. It involves identification of cell surface immunoglobulins using chemical methods
d. It involves measurements of the activity of the immune system
e. In situ detection of antigens (macromolecules) using specific antibodies produced reactive with them

A

e. In situ detection of antigens (macromolecules) using specific antibodies produced reactive with them

38
Q
  1. Since DNA has _______ charge, it moves toward the ____ electrode of the electrode of the electrophoresis chamber
A

Negative, positive

39
Q
  1. Cystis fibrosis (CF) in humans is caused by a recessive allele. A normal couple have 4 children, 3 normal and 1 affected. What is/are genotypes of parents?

a. Both are homozygote normal
b. Only one parent carries the CF allele
c. One parent is homozygous for CF and the other is hemizygous
d. Both are heterozygous for CF
e. None of the above

A

d. Both are heterozygous for CF

40
Q
  1. Cell lines:
    a. Have limited capacity to divide
    b. Include diploid cells only
    c. Include cells highly
    d. Are characterized by contact inhibition
    e. Also include cells of human origin
A

e. Also include cells of human origin

41
Q
  1. Polymorphism refers to:
    a. The presence of several distinct forms of DNA sequence within populations
    b. A trait in which two alleles are co-dominant
    c. Single gene that affects multiple aspects of phenotype
    d. Many genes that affect a single aspect of the phenotype
    e. Both many genes and many environmental factors that affect a single aspect of phenotype
A

a. The presence of several distinct forms of DNA sequence within populations

42
Q
  1. The number of DNA molecules in the nucleus of a diploid human cell in G1 phase is…
A

46

43
Q
  1. A human body cell normally contains 46 chromosomes. Give the number of chromosomes in each of the following:
    a. A cell resulting from the mitotic division of a spermatogonium
    b. A primary oocyte
    c. A secondary spermatocyte
    d. The polar body formed along with a secondary oocyte
    e. A Spermatid
    f. A cell formed after spermiogenesis
A

a. A cell resulting from the mitotic 1division of a spermatogonium = 46
b. A primary oocyte = 46
c. A secondary spermatocyte = 23
d. The polar body formed along with a secondary oocyte = 23
e. A Spermatid = 23
f. A cell formed after spermiogenesis = 23

44
Q

A synaptonemal complex is:
a. The internal structure of nucleoprotein that make up a chromosome
b. A ladder like structure that forms in pairing of homologous chromosomes meiosis
c. The spindle fibers that attach to homologous chromosomes during
d. The spindle fibers that attach from pole to pole without binding chromosomes
e. The set of cells produced from a single original parent cell in oogenesis

A

b. A ladder like structure that forms in pairing of homologous chromosomes meiosis

45
Q
  1. Match the disorder with the chromosome abnormality:
    a. Turner syndrome
    b. Klinefelter
    c. Down syndrome aneuploidy, non-disjunction Trisomy21
    d. Cri du chat syndrome
    e. Philadelphia chromosome
    f. XXY
    g. 46 XY
A

a. Turner syndrome – aneuploidy, monosomy, non-disjunction, 45 XO
b. Klinefelter – aneuploidy, non-disjunction 47xxy
c. Down syndrome – aneuploidy, non-disjunction Trisomy21
d. Cri du chat syndrome – structural chromosomal abnormality, deletion 46C (XX/XY) 5p-
e. Philadelphia chromosome – structural chromosomal abnormality, translocation
f. XXY – aneuploidy, non-disjunction Klinefelter
g. 46 XY – euploidy normal

46
Q
  1. Which one of the following statements regarding genetic polymorphism is correct?
    a. A polymorphism that occurs in noncoding regions of DNA is a genetic marker
    b. Polymorphism resulting from alteration of the protein structure of a restriction endonuclease are restriction fragment length polymorphism (RFLPs)
    c. Chromosome heteromorphisms are usually detected by DNA fingerprinting
    d. Genetic polymorphism are variations in DNA sequence that commonly occur
A

d. Genetic polymorphism are variations in DNA sequence that commonly occur

47
Q
  1. Which is correct?
    a. MPF triggers the mitosis and meiosis as well
    b. MPF is inactivated after M phase
    c. MPF has phosphatase activity
    d. MPF phosphorylates the nuclear envelope
    e. MPF phosphorylates the DNA
A

a. MPF triggers the mitosis and meiosis as well

48
Q
  1. What characterize the inactive MPF?
    a. The M (B) cyclin component of it has an activating and an inhibitory phosphate group
    b. It is the substrate of kinases and a phosphatases
    c. It dephosphorylates different target proteins in anaphase
    d. It is activated between S and G2 phase
    e. It directly separates the cohesion from the chromosome
A

b. It is the substrate of kinases and a phosphatases

49
Q
  1. What is the requirement for passing the restriction point (in cell cycle of multicellular organisms?)
    a. Dephosphorylation of pRb
    b. Binding of pRb and E2F
    c. Synthesis of pRb
    d. Phosphorylation of pRb
    e. Proteolysis of pRb
A

d. Phosphorylation of pRb

50
Q
  1. Some people with polydactyly have one or two extra toes, others have one or two extra fingers, and few have both extra toes and fingers. This situation is an example of a trait that is:

A. Incomplete penetrant
b. Variable expressed
c. Both A and B
d. Pleiotropic
e. Codominant

A

b. Variable expressed

51
Q
  1. Cystic fibrosis is resulted in defective ion channels for:
    a. Na+
    b. Cl-
    c. Ca++
    d. ClO3-
    e. H+
A

b. Cl-

52
Q

Why would you predict that half of the human babies will be males and half will be females?
a. Because the segregation of the X and Y chromosome during male meiosis
b. Because of the segregation of the X chromosome during femalemale meiosis
c. Because all eggs contain an X chromosome
d. Because, on average, one-half of all eggs produce females
e. Because of the formation of Barr body early during embryonic development

A

a. Because the segregation of the X and Y chromosome during male meiosis

53
Q
  1. Barr body is:
    a. The cause of Down syndrome
    b. An amplified gene
    c. A polytene chromosome
    d. A ribonucleoprotein particle
    e. An inactivated X chromosome
A

e. An inactivated X chromosome

54
Q
  1. Diagnosis of chromosome aneuploidy of unborn children is normally done by a combination of amniocentesis, cell culture and ______
    a. Enzyme assay
    b. RFLP analysis
    c. Pedigree analysis
    d. Karyotyping
    e. Northern blot
A

d. Karyotyping

55
Q
  1. Which characteristic of the genetic code lowers the likelihood of mutation?
    a. universality
    b. degeneracy
    c. Triplet
    d. Non-overlapping nature
    e. More than one stop codon
A

b. degeneracy

56
Q
  1. A frameshift mutation has more serious consequences than a point mutation because a frame shift mutation:
    a. Cannot ever be transcribed onto an mRNA molecule
    b. Prevents uracil from being used in the mRNA molecule
    c. Only affects a single codon
    d. Causes all of the codons after it to be different
    e. Causes the next codon to be stop codon
A

d. Causes all of the codons after it to be different

Genetics and genomes (19 decks)

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