MOLECULAR BIOLOGY

FINAL EXAM ANSWERS

1. DNA consists of the following components:

nitrogen base and sugar ,phosphate.

2. What is the direction of the DNA strands?

anti parallel.

3. What enzyme unwinds and separates two maternal DNA strands out?
dna helicase.

4. What chain is called leading?

continious synthesizing chain of dna

5. How many codons are in the eukaryotic cell?

64[coding 61 and 3 stop codon]

6. At the 5-end of mRNA is the "cap": the first unit is always the 7-methylguanilate (with
another he is bound nucleotide pyrophosphate bond); the several following nucleotides can
be methylated at the 2-position of the ribose. What is the functional role of cap?

prevent Mrna from exonuclease activity.

 7. Translation of mRNA always starts with:
initiation codon [aug]

8. What is the translocation in translation?

moving of ribosome to one triplet in mrna.

9. Determine the following property of the genetic code: «In all living organisms the sense of
any triplet is the same»
universal

10. What is the elongation of translation?

lenthening of polypeptide chain.

11. The prosthetic group of glycoproteins:

The prosthetic group in glycoprotein is carbohydrate

12. Specify fibrillar proteins:

● Fibrous proteins consist of elongated polypeptide chains that run
parallel to one another and are stabilized by cross-linkages. In
humans, their main role is to provide structure and support and aid
in biomechanics.
● Examples of fibrous proteins are α-keratin,the major component
 of hair and nails, and collagen, the major protein component of
tendons, skin, bones, and teeth.

13. Indicate the number of levels of organization in the spatial structure of proteins:
Proteins have four level of organization: primary, secondary, tertiary, and quaternary.

14. Primary structure of the protein

The primary structure of a protein — its amino acid sequence —
drives the folding and intramolecular bonding of the linear amino
acid chain, which ultimately determines the protein's unique three-
dimensional shape.
● The primary structure is the sequence of amino acids that make
up a polypeptide chain. 20 different amino acids are found in
proteins. The exact order of the amino acids in a specific protein is
the primary sequence for that protein.

15. Quaternary structure of the protein

the quaternary structure of a protein refers to those
macromolecules with multiple polypeptide chains or subunits.
Many proteins are formed from more than one polypeptide chain.
The quaternary structure describes the way in which the different
subunits are packed together to form the overall structure of the
protein. For example, the human hemoglobin molecule is made of
four subunits.

16. The formation of the tertiary structure of the protein involves the following relationships
and interactions, with the exception of
 Protein tertiary structure is due to interactions between R groups in
the protein. Note that these R groups MUST be facing each other
to interact
They are interactions between amino acid sidechains within a
protein. These interactions will only occur if the sidechains are
near each other in three-dimensional space; the interactions
between sidechains often drive protein folding.

17. The strongest bonds in the protein molecule

Covalent bonds are the strongest chemical bonds contributing to protein structure.

18. The bonds stabilizing the α-helix

Hydrogen bonds

19. The division of proteins into simple and complex proteins is based on the difference in
Protein classification based on chemical composition

20. Secondary structure of the protein

Protein secondary structure refers to regular, repeated patterns of folding of the protein backbone. The
two most common folding patterns are the alpha helix and the beta sheet.

21. Ligand is:

• a ligand is any molecule or atom which binds reversibly to a protein. A ligand can be an individual
atom or ion. It can also be a larger and more complex molecule made from many atoms.
• A ligand can be natural, as an organic or inorganic molecule. A ligand can also be made
synthetically
 • a ligand is a substance that forms a complex with a biomolecule to serve a biological purpose

22. Tertiary structure of the protein

Tertiary structure refers to the overall folding of the entire polypeptide chain into a specific 3D shape.
The tertiary structure of enzymes is often a compact, globular shape.

23. The DNA molecule has the structure:

DNA is a macromolecule consisting of two strands that twist
around a common axis in a shape called a double helix.
● Each strand of DNA is a polynucleotide composed of units
called nucleotides. A nucleotide has three components: a sugar
molecule, a phosphate group, and a nitrogenous base.
● The sugar in DNA’s nucleotides is called deoxyribose—DNA is
an abbreviation for deoxyribonucleic acid. glycosidic bond join the
sugar to nucleotide to the phosphate group with phosphoester
bond, forming the DNA strand’s sugar-phosphate backbone.
● A nitrogenous base is an organic molecule that contains nitrogen
and has the chemical properties of a base. There are four
nitrogenous bases that occur in DNA molecules: cytosine, guanine,
adenine, and thymine (abbreviated as C, G, A, and T).

24. The function of DNA is:

The function of DNA is to store all of the genetic information that
an organism needs to develop, function, and reproduce.

25. The DNA contains these nitrogenous bases:

Purines and pyrimidines are the nitrogen bases that hold DNA
strands together through hydrogen bonds.
The purines in DNA are adenine and guanine.
The pyrimidines in DNA are cytosine and thymine.
 26. The structure of DNA does not include a nitrogenous base:
Uracil

27. DNA molecule is different from RNA:

28. The polynucleotide DNA chain is formed by:

DNA is double-stranded polynucleotide chain. Each chain is formed
from sugar-phosphates backbone and bases linked to sugar moiety
project from the backbone. The DNA base pairs are complementary
to each other. DNA is composed of two polynucleotide strands that
are wounded around each other to give the double helix form.
 29. DNA contains the following acid:
DNA contains deoxyribose nucleic acid

30. Purine bases in DNA include:

Adenine and guanine

31. The pyrimidine nitrogenous bases in the DNA include:

cytosine and thymine

32. Monomers of nucleic acids are

Monomers of nucleic acids are nucleotides.

33. The carbohydrate that is part of the DNA structure:

The carbohydrate part of DNA structure is the deoxyribose
sugar.

34. Determine the proteins that prepare parental DNA for replication

These include DNA polymerases, single-strand DNA binding

proteins, helicases, primase,topoisomerases, and DNA ligase.

35. What amount of DNA is in nucleus after replication?

two identical DNA molecules

36. In what direction does DNA replication occur?

5'-to-3' direction
 37. What is the feature of SSB-proteins?

To prevent the degradation and supercoiling of the dna strands

38. How called the enzyme which is responsible for synthesis DNA: both replication and
repair?

DNA polymerase 1 is responsible for repair.

39. How called the daughter chain which is synthesized with interruptions in replication?

daughter strand that is synthesized discontinuously, known as the

lagging strand

40. Determine the enzymes of polymerization

enzymes such as peroxidase, oxidase, or oxygenase.

41. What is the Okazaki fragments?

Okazaki fragments are short sequences of DNA nucleotides which

are synthesized discontinuously and later linked together by the
enzyme DNA ligase to create the lagging strand during DNA
replication.

42. What kind of nitrogenous bases of the pyrimidine series enter into the composition of
RNA?

Cytosine and uracil.

43. RNA consists of the following components:

• A ribose sugar
• Nitrogenous bases-adenine, guanine, cytosin and uracil
• A Phosophate group

44. What kind of nitrogenous bases not enter into the composition of RNA?

Thymine

45. Identify types of RNA:

• CODING RNA-mRNA
• NON CODING RNA
• Housekeeping ncRNA-tRNA,Rrna
• Regulatory ncRNA-microRNA,SnoRNA,SnRNA,PiRNA

46. What the nitrogenous bases of the purine series entered into the composition of RNA?

Adenine and guanine

47. What the nitrogen bases entered into the composition of RNA?

Adenine, guanine, cytosine and uracil

48. What bond linked mononucleotides in primary structure of RNA?

Phosphodiaster bond
 49. Where localized anticodon:
An anticodon is found at one end of a transfer RNA (tRNA)
molecule

50. What is the characteristic structure of tRNA?

Transfer RNA (tRNA) is a short nucleotide RNA chain. With a L-
shaped structure, tRNA functions as an ‘adaptor’ molecule that
translates three-nucleotide codon sequence in the mRNA into the
suitable amino acid of that codon.

51. What is the composition of eukaryotic ribosomes?

Eukaryotic 80S ribosomes comprise two unequal subunits that
contain four different rRNAs and around 80 r-proteins.

52. Determine the enzyme which catalyzes the synthesis of pre-mRNA

RNA polymerase II catalyzes the formation of a pre-mRNA

molecule, which is then processed to form mature mRNA

53. What type of tRNA is able to bind the same amino acid?

At one end, the tRNA has an anticodon of 3'-UAC-5', and it binds to

a codon in an mRNA that has a sequence of 5'-AUG-3' through
complementary base pairing. The other end of the tRNA carries the
amino acid methionine (Met), which is the the amino acid specified
by the mRNA codon AUG.

54. What enzyme catalyizes the synthesis of pre-rRNA?

RNA polymerase I synthesizes a pre-rRNA .

55. What enzyme catalyizes the synthesis of pre-tRNA?

RNA polymerase II catalyzes the formation of a pre-mRNA
molecule, which is then processed to form mature mRNA

56. What is the functional role of the coding region of mRNA?

The primary function of the coding region of a transcript is to
be read by the ribosome,

57. How many triplets are the sense codons of the DNA structure?

61 triplets

58. How many triplets are the stop codons of the DNA structure?

3 triplets are stop codons

 59. In what structure occured the transcription?

Nucleus

60. Identify the following property of the genetic code: «Each individual codon encodes only
one amino acid»:

The genetic code is non-ambiguous which means a specific codon

will only code for a particular amino acid. Also, the same genetic
code is seen valid for all the organisms i.e. they are universal.

61. Where is interaction between codon and anticodon occured?

ribosomal peptidyl-site.

62. Determine the following property of the genetic code: “One amino acid can encode the
several (from 1 to 6) triplets”:

The code is degenerate, meaning more than one codon encodes for
the same amino acid. There are 64 possible triplets yet only 20 amino
acids so most amino acids are encoded by 2 or more codons. Triplets
that code for the same amino acid are known as synonyms

63. How is this process called where the peptide chain wraps in the correct three-dimensional
structure (joining the several subunits)
The tertiary structure of protein folding.

64. Identify the stages of transcription:

Activation, initiation, Elongation, Modification and termination

in eukaryotic transcription

65. What enzyme catalizes an amino acid binding to tRNA in the translation?

An aminoacyl-tRNA synthetase (aaRS or ARS), also called tRNA-

ligase, is an enzyme that attaches the appropriate amino acid onto its
corresponding tRNA

66. Determine the following property of the genetic code: «each amino acid comprise three
consecutive nucleotide»

The code is read sequentially in a group of three and a nucleotide

which becomes a part of triplet never becomes part of the next
triplet.it is a non overlapping code

67. What is the complex of ribosomes called which is connected by a chain of mRNA and
gradually moving towards to 3' end in the translation process

The small ribosomal subunit moves forward (5′ to 3′) along

the mRNA.
 68. The three-dimensional structure of DNA, in which two DNA chains held together by
hydrogen bonds between the bases are coiled around one another.

The three-dimensional structure of DNA—the double helix—

arises from the chemical and structural features of its two
polynucleotide chains.

69. Information-containing element that controls a discrete hereditary characteristic

Genes

70. Short length of RNA synthesized on the lagging strand during DNA replication and
subsequently removed
Okazaki Fragments

71. Enzyme that joins two adjacent DNA strands together

DNA Ligase

72. Enzyme that opens the DNA helix by separating the single strands
DNA Helicase

73. Y-shaped region of a replicating DNA molecule at which the two daughter strands are
formed.
Replication fork

74. Period during a eukaryotic cell cycle in which DNA is synthesized

 S phase Of Interphase.

75. Enzyme that elongates telomeres, the repetitive nucleotide sequences found at the ends of
eukaryotic chromosomes.

Telomerase which is an RNA-dependent DNA polymerase.

76. Helps to position the RNA polymerase correctly at the promoter, to aid in pulling apart
the two strands of DNA to allow transcription to begin, and to release RNA polymerase
from the promoter into the elongation mode once transcription has begun

Basal transcriptional factor called as TFIIF helps the binding of RNA polymerase to promoter
and TFIIH has helicase and kinase activity.

77. Nucleotide sequence in DNA to which RNA polymerase binds to begin transcription.

RNA polymerase binds to a sequence of DNA called the promoter, found near the beginning of
a gene.

78. The enzyme that carries out transcription.

RNA polymerase and a number of accessory proteins called transcription factors.

79. RNA molecule that specifies the amino acid sequence of a protein.
mRNA

80. Protein that helps other proteins fold correctly.

molecular chaperones.
 81. Select the organization of the genetic apparatus:

gene, chromosome and genome.

82. Who discovered the term «gene»?

Danish botanist Wilhelm Johannsen coined the word gene in 1909

83. What is the gene?

information about primary structure of protein.

In biology, a gene is a basic unit of heredity and a sequence of nucleotides

84. What type of chromosome has the terminal location of the centromere?
Sub metacentric

85. Who proposed the exact number of chromosomes in human cells?

Joe Hin Tjio defined 46 as the exact number of human chromosomes

86. What is a stack of membranes in Golgi complex which is splitted the vesicles off?

The Golgi complex or Golgi apparatus consists of 3-20 flattened and stacked saclike structures called
cisternae. A complex network of tubules and vesicles is located at the edges of the cisternae.

87. Determine human peroxisomal disease

 zellweger syndrome ,zellweger like syndrome.

88. What is transduction?

Transfer of genetic meterial by becteriophage

89. What is the expressivity?

degree to which a phenotype is expressed

90. What is the genotype?

The genotype of an organism is its complete set of genetic material. Genotype can also be used to refer
to the alleles or variants an individual carries in a particular gene or genetic location.

91. How many groups are in the human karyotype according to Denver classification?
Seven groups

92. What is the euchromatin?

lightly stained part

93. What is the genomic mutation?

change in number of chromosome

94. What is sub-lethal mutation?

 it decrease the vitality of organism

95. What is the medical significance of mutations?

it creates a new DNA sequence for a particular gene, creating a new allele.
96. What is somatic mutation?
change in somatic cell of body

97. What is the duplication?

Duplication is a type of mutation that involves the production of
one or more copies of a gene or region of a chromosome.

98. What are the trisomy and polysomy?

Presence of extra chromosomes

99. What is the inversion?

An inversion occurs when a chromosome breaks in two places and the region between the break rotates
180° before rejoining with the two end fragments.

100. What is the physical agent of mutagenesis?

ionizing radiation,temp

101. List the types of chromosomal aberrations:

delition,duplication,translocation etc

102. What kind of mutation called lethal?

complete death of organism

103. What type of mutation called generative?

mutation in germ cells

104. What are the chemical agents of mutagenesis?

musturd gas.
 105. All cell membranes are a complex mixture which consist of:
Phospholipids

106. What is the lipid flip-flop?

A moving lipids from one membrabe layer to another.

107. Determine the enzyme marker of Golgi complex membranes:

Galactosyl transferase

108. What disease associated with metabolic disorders of sphingolipids?

Tay-sachs disease.

109. Where synthesized lipids of membrane?

On the membrane of endoplasmic reticulum

110. Who have proposed a membrane model of protein-lipid mosaic?

Singer and Nicolson.

111. Special transmembrane proteins, that can specifically bind to information molecules and
transmit signals inside the cell are called …
Receptor

112. Determine the enzyme marker of endoplasmic reticulum membranes:

Glucose 6 phosphate and NADPH cytochrome c (cyt c) reductase
113. Which model most adequately describes the properties of the cell membrane?
Fluid mosaic model.

114. What is the transformation?

Genetic transformation involves the transfer and incorporation of
foreign DNA into a host genome.
 115. Who and when discovered the phenomenon of transformation?
Frederick Griffith, in 1928.

116. Determine scientists who described the phenomenon of transduction?

Transduction was discovered by Norton Zinder and Joshua
Lederberg at the University of Wisconsin–Madison in 1952 in
Salmonella.

117. Identify the number of the chromosome in the human somatic cells
Human somatic cells have 46 chromosomes consisting of two sets of
22 homologous chromosomes and a pair of nonhomologous sex
chromosomes
118. How many chromosomes do the human haploid sets include?
23 chromosomes

119. What type of chromosome is Y-chromosome?

The Y chromosome is present in males, who have one X and one Y
chromosome. The Y chromosome spans more than 59 million
building blocks of DNA (base pairs) and represents almost 2 percent
of the total DNA in cells.
120. What kind of chromosome called autosome?
An autosome is any of the numbered chromosomes, as opposed to the
sex chromosomes. Humans have 22 pairs of autosomes and one pair
of sex chromosomes (the X and Y)

121. Where is centromere of the acrocentric chromosome?

In acrocentric chromosomes, the centromere is located quite near the
distal end of the p-arm.

122. What are the telomeres?

A telomere is the end of a chromosome. Telomeres are made of
repetitive sequences of non-coding DNA that protect the
chromosome from damage.
123. What type of chromosome called non-homologous?
chromosomes that do not belong to the same pair.

124. What signs are the basis of the Denver classification of chromosomes?
the classification of human chromosomes on the basis of size and
centromere position; the 23 pairs of chromosomes are classified in
seven groups (A to G), in order of decreasing length.

125. What function does the histone protein of chromosome perform?

A histone is a protein that provides structural support to a
chromosome. In order for very long DNA molecules to fit into the
cell nucleus, they wrap around complexes of histone proteins, giving
the chromosome a more compact shape. Some variants of histones
are associated with the regulation of gene expression.

126. What part of the chromosome is the place of formation and localization of the nucleolus?
Secondary constrictions of chromosomes

127. Decipher the PCR:

Polymerase chain reaction is a method widely used to rapidly make
millions to billions of copies of a specific DNA sample,

128. What is the cytoplasm?

Cytoplasm is the gelatinous liquid that fills the inside of a cell.
 129. Determine non-membranous organoids
Non-membranous organelles are not surrounded by a plasma
membrane. Most non-membranous organelles are part of the
cytoskeleton, the major support structure of the cell. These
include: filaments, microtubules, and centrioles.

130. What organelle has its own DNA?

Mitochondria

131. What are the organelles?

Organelles are specialized structures that perform various jobs
inside cells.

132. What organelle is the major organelle?

Among the more important cell organelles are the nuclei, which store
genetic information; mitochondria, which produce chemical energy;
and ribosomes, which assemble proteins.

133. Determine the specialized organelles:

Organelles are specialized structures that perform various jobs inside
cells. The term literally means “little organs.” In the same way
organs, such as the heart, liver, stomach, and kidneys, serve specific
functions to keep an organism alive, organelles serve specific
functions to keep a cell alive.

134. Determine organelles which have two-membrane structure

Mitochondria , , Nucleus, and Chloroplasts have a double layered
membrane .

135. Determine organelle which has membrane structure:

Membrane-bound organelles are nucleus, endoplasmic reticulum,
Golgi apparatus, mitochondria, plastids, lysosomes, and vacuoles.

136. What is the main process occurring in the nucleolus?

Main function is ribosomal RNA (rRNA) synthesis and ribosome
biogenesis, ribosomes are transported to the cell cytoplasm where
they serve as the sites for protein synthesis.

137. There is the transport of substances and ions between the nucleus and the cytosol or
cavity of the endoplasmic reticulum by:
through nuclear pore complexes

138. Determine the formation place of the primary lysosome:

Golgi sacs.
139. What is the lysosome?
A lysosome is a membrane-bound cell organelle that contains
digestive enzymes. They break down excess or worn-out cell parts.
They may be used to destroy invading viruses and bacteria.

140. What organelle performs the cell transport system?

endoplasmic reticulum

141. What is the function of rough endoplasmic reticulum?

produce proteins for the rest of the cell to function, and
Transport

142. What is the function of lysosome?

break down excess or worn-out cell parts.
143. What organelle provides synthesis of carbohydrates?
Smooth endoplasmic reticulum

144. What organelle provides synthesis of lipids?

Endoplasmic reticulum

145. What is the membrane compartment which is associated with many ribosomes?
Rough endoplasmic reticulum (ER)

146. How do the newly synthesized membrane and secretory proteins and membrane lipids
glycosylated in the endoplasmic reticulum get into the Golgi complex?
Proteins and lipids from the ER enter the Golgi apparatus at its cis
face and exit at its trans face.

147. How do the proteins and lipids leave Golgi apparatus?

Proteins and other molecule are transported to the golgi by packages
called vesicles

148. The main component of Golgi apparatus is:

Golgi apparatus consists of a stack of flattened cisternae and
associated vesicles.

149. Full set of chromosomes of a cell arranged with respect to size, shape, and number.

Karyotype

150. Any one of a group of small abundant proteins, rich in arginine and lysine, that form the
primary level of chromatin organization.

Histone
 151. Constricted region of a mitotic chromosome that holds sister chromatids together.

Centromere

152. The main type of phospholipid in animal cell membranes, with two fatty acids and a polar
head group attached to a three-carbon glycerol backbone.

Phosphatidylcholine and phosphatidylserine

153. Lipid molecule with a characteristic four-ring steroid structure that is an important
component of the plasma membranes of animal cells.

Cholesterol

154. The movement of a small molecule or ion across a membrane due to a difference in
concentration or electrical charge

Passive transport

155. General term for a membrane-embedded protein that serves as a carrier of ions or small
molecules from one side of the membrane to the other.

membrane transport protein

156. Movement of a molecule across a membrane that is driven by ATP hydrolysis or other
form of metabolic energy.

Active transport
 157. Membrane carrier protein that transports two different ions or small molecules across a
membrane in opposite directions, either simultaneously or in sequence.

Antiporter

158. Carrier protein that transports two types of solute across the membrane in the same
direction.

Symporter

159. General term for the process by which cells take up macromolecules, particulate
substances, and even other cells into membrane-enclosed vesicles.

Phagocytosis

160. Type of endocytosis in which soluble materials are taken up from the environment and
incorporated into vesicles for digestion.

• Pinocytosis
• Phagocytosis
• Receptor-mediated endocytosis
• Exocytosis
All answer are correct

161. Type of endocytosis in which soluble materials are taken up from the environment and
incorporated into vesicles for digestion.
• Pinocytosis
• Phagocytosis
• Receptor-mediated endocytosis
• Exocytosis
All answer are correct
 162. Kinetochore is the site where attached:
microtubules

163. What involved in the formation of the spindle and the creation of a guide and
electromotive force separating the chromatids?
Microtubules

164. Determine amorphous bodies located near the nuclear envelope, and containing a
centriole:
Centrosome

165. Kinetochore is located in:

Centromere

166. What phase called the period of preparation for mitosis where is occured the synthesis
and replication of DNA ?
S phase

167. What organoid is involved in the process of cell division?

Centriole

168. Select the correct sequence of phases of mitosis:

prophase, metaphase, anaphase, telophase. Cytokinesis typically overlaps with anaphase and/or
telophase. You can remember the order of the phases with the famous mnemonic: [Please] Pee on the
MAT.
 169. Select a set of periods which all are called the interphase:
the first gap phase (G1), the synthesis (S) phase, and the second gap (G2) phase.

170. In what phase of cell cycle is possible to study karyotype?

Metaphase

171. Select the correct process which is the most characteristic for presynthetic period of
interphase:
G1 phase

172. What biological importance has mitosis?

the method of preserving the constancy number of chromosonies in cell division in subsequent
generations

173. In what phase of the mitotic cycle, chromosomes are located in the center of the cell and
their centromeres attached with the spindle thread?
Metaphase

174. Determine the amount of DNA in the G -period of the cell cycle:
2
4 DNA

175. How is cAMP formed?

By enzyme adenylate cyclase from ATP

176. What is the importance of inositoltriphosphate (IP3)?

binding with Ca²+ channels of plasmolemma and endoplasmic
reticulum translates them into an open state.

177. What cellular mechanism responds to its own signal of the cell (the cell produces a
 signaling molecule and at that time carries on its surface the receptors necessary for
respond of the secreted ligand)?
Autocrine signaling

178. What are the main mechanisms of intracellular signaling?

Phosphorylation and dephosphorylation

179. What type of secondary messengers is formed from a specialized membrane lipid
inositolphospholipid by the enzyme phospholipase C?
DAG AND ACETO3PHOSPHATE

180. What is the importance of diacylglycerol (DAG)?

DAG is an important signalling phospholipid's aid in protein
kinase C formarion.

2+
181. What is the role of Ca as the secondary messenger?
ACTIVATION OF THYMEDULIN

182. The main protein of microtubule is…

Tubulin

183. The main protein of actin filament is …

Actin

184. Identify the protein which is a molecular motor:

The best prominent example of a motor protein is the muscle protein
myosin which "motors" the contraction of muscle fibers in animals.
 185. The component of cytoskeleton and the core domain forming by curled spiral domains is
called …..
Intermediate filament

186. Identify one of three main proteins of the intermediate filaments:

The intermediate filaments comprise the major component of the
cytoskeleton and consist of five major subgroups—vimentin,
keratins, desmin, neurofilaments, and glial fibrillary acidic
protein (GFAP)—and a small number of minor subgroups (e.g.,
nestin, peripherin).

187. The growing end of microtubules is called:

Plus end

188. Identify the protein which is a molecular engine:

Well-studied examples of ATP-driven linear molecular motors
include myosins, (3) kinesins, (4) and dyneins (5) responsible for
cellular activities such as muscle contraction and intracellular vesicle
transport.

189. Identify a junctional component of cytoskeleton participating to intercellular adhesion :

actin cytoskeleton

190. What is the essence of the cytogenetic method in studying human heredity?
Study of chromosomes with microscope

191. What method of studying heredity used in the diagnosis of chromosomal diseases?
Cytological
 192. What does the term “siblings” mean?
each of two or more children or offspring having one or both
parents in common; a brother or sister.

193. Why do you use the twin methods for studying human heredity?
To assess the relative rule of heredity and environment in the
development of trait

194. What proportion of children in the first generations will exhibit a dominant trait, if one
parent is heterozygous with dominant allele and the other is homozygous with recessive?
50%

195. What does the term “proband” mean?

The first person in a family to receive genetic counseling and/or
testing for suspected hereditary risk. A proband may or may not be
affected with the disease in question.

196. Identify the characters accepted for designation in the pedigrees of female family
members:
Circle

197. What percentage of children will inherit the pathology, if both parents are heterozygous
with dominant allele controlling hereditary disease?
75%

198. What is the essence of the biochemical method?

The use of a system of qualitative and quantitative tests, which
allows to catch the disturbed content of metabolic products
 199. What is the disadvantage of human as an object of genetic research?
The main disadvantage is that it may cause psychological stress to an
individual if they were not previously aware of an increased risk of
developing a disease that has no cure.
All answer are correct

200. Identify chromosomal disease associated with increasing number of sex chromosomes:
Klinefelter syndrome

201. Isochromosome is …..

chromosome with repetitive genetic material in both shoulders

202. What syndrome is characterized by following symptoms: microcephaly, sloping forehead,

narrow eye slits, nose defect, low-set ears and deformed, cleft lip and cleft palate,
polydactyly (extra digits), heart defects, kidney defects?
Patau syndrome

203. Identify the possible formula of karyotype according to the following symptoms: short, a
short neck, barrel-shaped rib cage, delayed sexual development.
45,X0
204. What kind of syndrome below caused by the rearrangement in chromosome?
Many syndrome caused by rearrangement of chromosomes such as
• Wof-hirschkorn syndrome
• Down syndrome (Trisomy 21).
• FragileX syndrome.
• Klinefelter syndrome.
• Triple-X syndrome.
• Turner syndrome.
• Trisomy 18.
• Trisomy 13.

205. Determine the karyotype of Klinefelter syndrome:

47,XXY

206. Determine the karyotype of Edwards syndrome:

(47,XY+18)

207. Determine chromosomal disease which is associated with decreasing in the number of sex
chromosomes:
Turner syndrome

208. The occurence of ring chromosomes is…

The linkage of the two terminal deletions in both shoulders of the
chromosome.

209. What syndrome are characterized by the following symptoms: slanted eyes, a round face
with a flat profile, small nose, A missing nose bone, epicanthus folds, Small ears , a large
tongue that may protrude from the mouth, heart defects, clinodactyly?
Down syndrome

210. Identify the possible formula of karyotype according to the following symptoms: tall,
incomplete pubertal development with eunuchoid body habitus, Enlarged breast tissue
(gynecomastia), less facial and body hair compared with other teens, sexual infantilism
47,XXY

211. What kind of syndrome below caused by the rearrangement in chromosome?

 Many syndrome caused by rearrangement of chromosomes such as
• Cri du chat syndrome
• Down syndrome (Trisomy 21).
• FragileX syndrome.
• Klinefelter syndrome.
• Triple-X syndrome.
• Turner syndrome.
• Trisomy 18.
• Trisomy 13.

212. Polyploidy is…

increasing of haploid set of chromosomes

213. Determine the formula of karyotype in Cri du chat syndrome:

46,xx,5P-

214. Determine the formula of karyotype in Wolf–Hirschhorn syndrome:

46,XX,4p-

215. Give the definition of chromosomal diseases:

These are caused by genomic mutations or structural changes in
individual chromosome.

216. What kind of structural aberrations can be the reasons of chromosomal diseases?
deletion, duplication, inversion, and translocation.
 217. What changes in karyotype observed in Patau syndrome?
Trisomy 13

218. An electronic micrograph presents a cell that has no nucleole and nuclear membrane.
Chromosomes has free position, centrioles migrate to the poles. What phase of cell cycle is
it typical for?
Anaphase

219. Normal, actively dividing cells of human red bone marrow are analyzed. What number of
cells’ chromosomes is typical for G1 period?
G1 phase (Gap 1) - Cellular contents excluding the chromosomes, are
duplicated. II. S phase (DNA Synthesis) - Each of the 46
chromosomes are duplicated by the cell.

220. Life cycle of a cell includes the process of DNA autoreduplication. As a result of it
monochromatid chromosomes turn into bichromatid ones. What period of cell cycle does
this phenomenon fall into?
S phase

221. During the examination of a two month boy a pediatrician noticed that the child’s cry
sounds like cat’s mewing; he revealed also microcephalia and valvular defect. By means of
cytogenetic method he determined the child’s karyotype ― 46 ХY, 5р-. At what stage of
mitosis was the patient’s karyotype analyzed?
Metaphase

222. While studying maximally spiralized chromosomes of human karyotype the process of cell
division was stopped in the following phase:
Metaphase

223. Moving of the daughter chromatids to the poles of the cell is observed in the mitotically
dividing cell. On what stage of the mitotic cycle is this cell?
Anaphase

224. According to the law of constant chromosome number, each species of most animals has a
definite and constant number of chromosomes. The mechanismus providing this constancy
in sexual reproduction of the organisms is called:
Meiosis

225. During the postsynthetic period of mitotic cycle the synthesis of tubulin proteins was
disturbed. These proteins take part in construction of division spindle. It can lead to the
disturbance of:
Chromosomal disjunction

226. A 2-year-old boy is diagnosed with Down syndrome. What chromosomal changes may be
the cause of this disease?
Down syndrome is caused by trisomy 21 — the person has three
copies of chromosome 21, instead of the usual two copies

227. There are trisome, translocational and mosaic forms of Down’s syndrome. What method
of human genetics can be applied to differentiate the said forms of Down’s syndrome?
Cytogenetic method

228. Medical examination at the military registration and enlistment office revealed that a 15-
year-old boy was high, with eunuchoid body proportions, gynecomastia, female pattern of
pubic hair distribution. The boy had also fat deposits on the thighs, no facial hair, high
voice, subnormal intelligence quotient. Which karyotype corresponds with this disease?
The karyotype corresponds to 47, XXY which is klinefelter
syndrome.

229. An 18-year-old boy applied to a geneticist. The boy has asthenic constitution: narrow
shoulders, broad pelvis, nearly hairless face. Evident mental deficiency. The provisional
diagnosis was Klinefelter’s syndrome. What method of clinical genetics will enable the
doctor to confirm this diagnosis?
Cytogenetic
 230. Detection of X-chromatin in somatic cells is used for the quick diagnosis of hereditary
diseases associated with a change in the sex chromosome number. Vast majority of a man’s
cells have three X-chromatin bodies. What is the man’s karyotype?
49, XXXXY

231. A 32 y.o. man is tall, he has gynecomastia, adult woman pattern of hair distribution, high
voice, mental deficiency, sterility. Provisional diagnosis is Klinefelter’s syndrome. In order
to specify diagnosis it is necessary to analize:
Karyotype

232. Cytogenetic examination of a patient with dysfunction of the reproductive system revealed
normal karyotype 46, ХY in some cells, but most cells have Klinefelter’s syndrome
karyotype – 47, ХХY. Such phenomenon of cell inhomogeneity is called:
mosaicism.

233. A 28-year-old female patient consulted a gynecologist about sterility. Examination

revealed underdeveloped ovaries and uterus, irregular menstrual cycle. Study of sex
chromatin revealed 2 Barr’s bodies in most somatic cells. What chromosome disease is the
most probable in this case?
Triple X syndrome

234. Mother and father are healthy. Mother underwent amniocentesis for fetal karyotyping.
The fetal karyotype turned out to be 45, XO. What syndrome can be expected in a
newborn baby?
Turner’s syndrome

235. Numerical chromosomal disorders include:

numerical disorders include trisomy, monosomy and triploidy.
Probably one of the most well-known numerical disorders is Down
syndrome (trisomy 21). Other common types of numerical
disorders include trisomy 13, trisomy 18, Klinefelter syndrome and
 Turner syndrome.

236. The structural chromosomal disorders include:

• Inversion
• Deletion
• Isochromosome
• Translocation
• Ring chromosome
• Insertion

237. Feature that is characteristic of autosomal recessive inheritance:

• In an autosomal recessive disorder, one mutated gene is inherited from each parent
• . The parents each carry one mutated gene and one normal gene for the disease
• although the parents do not have the disease.

238. Feature that is characteristic of autosomal dominant inheritance:

• Males and females are affected in roughly equal proportions.
• People in more than one generation are affected
• . Men and women are both able to pass on the condition to their sons and daughters.

239. Genealogical study of a family with hereditary enamel hypoplasia has revealed that the
disease occurs in every generation. In women, the anomaly occurs more frequently than in
men. Male patients only pass this trait to their daughters. What type of inheritance takes
place in this case?
X linked dominant

240. Hypertrychosis of auricles is caused by a gene that is localized in Y-chromosome. Father

has this feature. What is the probability to give birth to a boy with such anomaly?
100%

241. How do you achieve the high mitotic activity of lymphoid cells in the cytogenetic
research?
By acting with phytohaemagglutinin

242. What material is the source of genomic DNA in obtaining DNA or RNA samples?
 • Culture of fibroblast,
o Peripheral blood
o Chorion,
o Amniotic cells.
*All are correct

243. Amniocentesis is …
Puncture of fetal bladder to take amniotic fluid with the cells
of the amnion and fetus in it

244. How do you achieve (during the cytogenetic method) the destruction of spindle division
and stop cell division at the stage of metaphase?
By acting with a solution of colchicine

245. List the stages of medical-genetic consulting:

Diagnosis, prediction, conclusion ,recommendation

246. Cordocentesis is …
Blood sampling from the umbilical vessels of a fetus for
cytogenetic,molecular-genetic and biochemical analysis of blood

247. What material used for the cytological method which investigates heredity?
• A scraping in oral mucosal
• Blood cells
• Skin epithelium
• Amniotic fluid
All are correct

248. Identify the hereditary disorder caused by violotation of amino acid metabolism
Phenylketonuria
 249. Phenylketonuria was first described by
Dr. Asbjörn Følling

250. Select type of inheritance in albinism

Autosomal recessive

251. Identify the hereditary disorder caused by violotation of carbohydrates metabolism

Galactosemia

252. What is characteristic of Tay-Sachs disease:

Reduced activity of hexosaminidase A in the body; deposition of
ganglioside in brain cells. Liver cells, spleen cells and other
organs; destruction of axons in nerve cells

253. Identify the hereditary disorder of connective tissue:

Marfan syndrome

254. What are the typical features for patients with Marfan syndrome?
Tall , long arachnid fingers, chest deformation,flat feet,
subluxation of the lens , arortic aneurysm

255. Select type of inheritance in Marfan syndrome?

Autosomal dominant

256. Identify the hereditary disorder caused by violotation of lipid metabolism:

Tay-sachs disease

257. Sickle cell anemia was first discovered by

 James Herrick
The first documented case of sickle cell anemia was published in
1910 by a physician named James Herrick.

258. Select type of inheritance in mucopolysaccharidosis?

Autosomal recessive

259. Which of the following hereditary diseases refers to hemoglobinopathies?

Thalassemia

260. What is characteristic of mucopolysaccharidosis disease:

Violation of metabolism of acid glycosaminoglycls in the body
leads to insufficiency of lysosomal enzymes

261. Which of the following hereditary diseases refers to multifactorial?

Psoriasis

262. What disease related to multifactorial diseases?

Schizophrenia.
Some common multifactorial disorders include schizophrenia, diabetes, asthma, depression, high blood
pressure, Alzheimer's, obesity, epilepsy, heart diseases, Hypothyroidism, club foot and even dandruff.

263. What are the typical features for patients with phenylketonuria?
Convulsive syndrome,tendency to develop dermatitis,urine and
sweat of patients have a characteristic odor(mousy
odor),oligophrenia.

264. Select type of inheritance in galactosemia?

Autosomal recessive.
 265. What is the isolation?
It is restriction of liberity crosses(panmixia)organisms.

266. In anthropogenetics, the population of people is called…

Group of people occupying a common territory and freely
entering into marriage.

267. Determine the formula of Hardy-Weinberg law:

(p+q)2=P2+2pq+Q2

268. Determine the demographic indicators of the population of people:

Population statistics include indicators that measure the population
size, sex ratio, density and dependency ratio while vital statistics
include indicators such as birth rate, death rate, and natural growth
rate, life expectancy at birth, mortality and fertility rates.
*All answers are correct

269. What is the gene pool of the population?

The set of alleles forming the genotype of individual in this
population.

270. Which of the following applies to the elementary evolutionary factor?

• Natural selection.
• Mutation.
• Population
• Isolation.
All are correct
 271. Traits which characterizes the ideal population:
• Population Size and Density: Total size is generally expressed as the number of individuals in a
population. ...
• Population dispersion or spatial distribution: ...
• Age structure: ...
• Natality (birth rate): ...
• Mortality (death rate):
All answers are correct

272. What are the population waves?

Periodic or aperiodic fluctuations in the number of organisms
in natural population

273. In which case is there a negative selection against heterozygotes?

Rh -ve women and Rh +ve foetus.

274. What is the purpose of cytogenetic methods?

Study of the structure of chromosome set or individual
chromosomes.

275. Substitution of the glutamic acid on valine was revealed while examining initial molecular
structure. For what inherited pathology is this symptom typical?
Sickle-cell anemia

276. In some areas of South Africa many people have sickle cell disease characterized by red
blood cells that assume an abnormal sickle shape due to the substitution of glutamic acid
for valine in the hemoglobin molecule. What is the cause of this disease?
Gene mutation

277. An underage patient has signs of achondroplasia (dwarfism). It is known that this is a
monogenic disease and the gene that is responsible for the development of such
 abnormalities is a dominant one. The development of that child’s brother is normal.
Specify the genotype of the healthy child:
*aa

278. Examination of newborns revealed a baby with phenylketonuria. The baby’s parents
don’t suffer from this disease and have two other healthy children. Specify the most likely
parents’ genotype with phenylketonuria gene:
Аа х Аа

279. Phenylketonuria is a disease caused by a recessive gene that is localized in the autosome.
The parents are heterozygous for this gene. They already have two sons with
phenylketonuria and one healthy daughter. What is the probability that their fourth child
will have the disease too?
25%

280. An 18-year-old male has been diagnosed with Marfan syndrome. Examination revealed a
developmental disorder of connective tissue and eye lens structure, abnormalities of the
cardiovascular system, arachnodactylia. What genetic phenomenon has caused the
development of this disease?
Pleiotropy

281. A woman with III (B), Rh− blood group born a child with II (A) blood group. The child is
diagnosed with hemolytic disease of newborn as a result of rhesus incompatibility. What
blood group is the child’s father likely to have?
II (A), Rh+

282. A female with Rh-negative blood of A (II) type has a child with AB (IV) type who has been
diagnosed with hemolytic disease resulting from Rh-conflict. What blood type may the
baby’s father have?
*III (B), Rh-positive

0 0 A B
283. A boy has I (I I ) blood group and his sister has IV(I I ) blood group. What blood groups
do their parents have?
II (IAI0) and III (IBI0)

284. Heterozygous parents with А(II) and В(III) blood group according to the AB0 system
have got a child. What is the probability that the child has 0(I) blood group?
25%

285. Pigmentation intensity of human skin is controlled by a few independent dominant genes.
It is known that pigmentation is the more intensive, the bigger quantity of these genes.
What is the type of interaction between these genes?
Polymery

286. A married couple consulted a specialist at the genetic consultation about probability of
having children with hemophilia. Both spouses are healthy, but the wife’s father has
hemophilia. In this family hemophilia may be passed to:
Half of sons

287. A couple applied to a genetic consultation with a question about probability of living birth
to children with X-linked rachitis (dominant character). Father is healthy, mother is
heterozygous and suffers from this disease. Vitaminresistant rachitis can be inherited by:
A half of all daughters and sons

288. Enamel hypoplasia is caused by a dominant gene localized in the X chromosome. Mother
has a normal enamel, and father has enamel hypoplasia. Which of children will have this
anomaly?
Only the daughters

289. Continuous taking of some drugs foregoing the pregnancy increase the risk of giving birth
to a child with genetic defects. What is this effect called?
Mutagenic effect

290. A couple has a son with haemophilia. The parents are healthy but the maternal
grandfather also has haemophilia. Specify the type of inheritance:
Recessive sex-linked

291. A genetics specialist analyzed the genealogy of a family and found that both males and
females may have the illness, not across all the generations, and that healthy parents may
have ill children. What is the type of illness inheritance?
Autosomal recessive

292. A child’s blood presents high content of galactose, glucose concentration is low. There are
such presentations as cataract, mental deficiency, adipose degeneration of liver. What
disease is it?
Galactosemia

293. Examination of cell culture got from a patient with lysosomal pathology revealed
accumulation of great quantity of lipids in the lysosomes. What of the following diseases is
this disturbance typical for?
Tay-Sachs disease

294. A couple came for medical genetic counseling. The man has hemophilia, the woman is
healthy and there were no cases of hemophilia in her family. What is the risk of having a
sick child in this family?
0%

295. Examination of a 6 days old infant revealed phenyl pyruvate and phenyl acetate excess in
his urine. What aminoacid metabolism is disturbed in the child’s organism?
Phenylalanine

296. As a result of expression of some genome components the embryo cells acquire typical
morphological, biochemical and functional properties. Name this process:
Differentiation

297. An alcoholic woman has born a girl with mental and physical developmental lag. Doctors
diagnosed the girl with fetal alcohol syndrome. What effect is the cause of the girl’s state?
 Teratogenic

298. It is known that diseases of amino acid metabolism characterized by (almost all diseases
of this group) this type of inheritance:
autosomal recessive

299. Select a hereditary metabolic disease related to disturbances of amino acid metabolism:
Phenylketonuria

300. Which of the following are multifactorial disorders?

Schizophrenia

❖ By Hudab Rajpoot