1.

During normal adult life the MAJOR form, of

hemoglobin produced in red blood cells is:
' A. a262; B. a2B2. a262; D. a2Y2
2. Which of the following statements is FALSE:
A. The hemoglobinopathies are the most commoi single-gene disorders
in humans;
B. More than 5% of woFld's,population are carriers of genes responsible
for disorders of Hb;
' C. There are 2 a gobin and 2 13 globin genes perdiploid gemone ;
D. The tertiary structure of Hb has been highly conserved during
eVolution..
- 3. Which statement about a chains is true: -
A. The genes for a and a-like chains are clusteresd tandemly on
chromosome 16;
B. The genes for a chains are on chromosome 11 and the genes for
a-like.chains on chromosome 16;
C. The genes for a and a-like chains are clusteresd tandemly on
chromosome 11;
D. The genes for a chains are on chromosome 16 and the genes for
a-like chains on chromosome 24.
4. Which statement about I chains is true:
A. The genes for l and 13-like chains are clusteresd tandemly on
chromosome 16;
B. The genes for 13 chains are on chromosome 16 and the genes for
(3-like chains on chromosome 11;
C. The genes for 13 and 13 -like chains are clusteresd tandemly on
chromosome 11;
D. The genes for 13 chains are on chromosome 16 and the genes for f3
-like chains on chromosome 24.
5. The majority of iron present in the body is present as:
A. Ferritin; B. Myoglobin; C. Hemoglobin; D. Heme containing enzymes.
6. Where is the major site of globin synthesis during 3-8 of gestation:
A. Liver; B. Yolk sac C. Spleen; D. All of the above.
7. Where is the major site of hematopoesis inadult life:
A. Liver; B. Spleen; C. Bone marrow; D. All of the above.
8. Which of the following is the most common
type of normal human Fib: A. Hb A; B. Hb F;
C. Hb H; D. Hb S.
9. Which of the following is FALSE concerning the
hemoglobin molecule?
A. It contains amino acids B. It contains iron.
C. It can bind 02 molecules. D. It is found in humans
only.
10. The tertiary structure of a protein is the:
A. Bonding together of several polypeptide chains
by weak bonds.
 B. Order in which amino acids are joined in a
polypeptide chain.
C. Unique three-dimensional shape of the fully
folded polypeptide .
D. Organization of a polypeptide chain into an a
helix or (3 pleated sheet.
11. Which of the following is FALSE about fetal Hb:
A. Hb F accounts about 70% of total hemoglobin
at birth;
B. Hb F accounts about 20% of total hemoglobin in
adult life;
C. Switching of y-globin gene to 13-globin gene
takes place after the birth;
D. Hb F is the predominant
hemoglobin.throughout fetal life.

1. Which of the following corresponds to Hb. ;F:

A. 8272; B. a2y2 C-12132; D. 6272.

2. In the condition hereditary persistence of foetal haemoglobin

there is:
A. Increased production of a chains.
B. Decreased production of ychains.
C. Increased production of 13 chains.
D. Increased production of ychains.
14. Which of the following statement is correct:
A. Persistence of fetal Hb into adult life is an acquired disorder;
B. Throughout fetal life it is the liver that produces most of the
body's Hp
C. Persistence of fetal Hb into adult life is a benign condition;
D. After the birth spleen is the primary place of hematopoesis.
15. Which change in the polipeptode chain is characteristic to Hb S:
A. 0 chain:Glu6Val; B. 13 chain:G1u6Lys;
C. 13 chain:His92Tyr; D. 13 chain:G1u2Lys

16. Which of the following statement is correct:

A. Many Hb variants are harmless;
B. The types of mutation occurring in the hemoglobinopathies are
very limited;
C. The tertiary structure of Hb has undergone many changes during
evolution;
D. Point (missense) mutations are the usual cause ofabnciimalI-16 in
the sickling disorders.
17. Which statement about sickle-cell disease is true:
A. The sickling effect of red blood cells is the result of abnorthal Hb
binding with the red blood cell membrane;
B. Life-threatening thrombosis can occur; •
 C. Splenic infarction may occur but this has little clinical
consequence;
D. Deletions are the usual cause of abnormal Hb lathe sickling
disorders.
18. Which statement about sickle-cell disease is true:
A. The sickling effect of red blood corpuscles is the result of abnormal
Hb binding with the red blood cell membrane;
B. Hb S differs from normal Hb A by a single amino-acid
substitution ;
C. Splenic infarction may occur but this has little clinical
consequence;
D. Point (missense) mutations are the usual cause of abnormal Hb in
the sickling disorders.
19. The worldwide distribution of sickle cell anemia and 13-
thalassemia coincides with that of
A. influenza; B. cholera; C. multiple sclerosis; D.
malaria.
20. Sickle cell anemia is caused by a change in the amino
acid sequence of the two beta chains in the hemoglobin
molecule. How many amino acids have been changed in
each beta chain, compared to normal hemoglobin?
A. 1; B. 10; C. hundreds; D. thousands.

1. What causes the anemia in sickle cell disease?

A. An inability of the red cell to reduce organic peroxides;
B. An abnormal hemoglobin which polymerizes and irreversibly
injures the red cell;
C. Inability of red blood cells to transport oxygen;
D. Insufficient Hb A and excess unpaired a chains.

22. Which change in the polipeptode chain is characteristic

to Hb C:
A. b chain:Glu6Val; B. b chain:Glu6Lys;
C. b chain:His92Tyr; D. b chain:Glu22Lys.
23. Which of the following is characteristic to Hb C:
A. Heinz bodies damage the red blood cell
membrane;
B. It is less soluble than Hb A and tends to
crystallize in red blood cells;
C. Mutation allows heme to drop out off its
pocket;
D. They aggregate, block blood flow and cause
local ischemia.
24. Persons with Hb SC disease are referred to as:
A. Compouind heterozygotes ; B. True homozygotes;
C. Heterozygotes; D. Hemizygous
25. Patients with Hb SC disease:
A. Frequently die in utero from complications of the
hemoglobinopathy;
B. Have a different mutation in each copy of their 13-globin gene,
though both are in the same codon ;
C. Never experience sickle cell crises;
D. Could not have a child with sickle cell disease.

26. Which of the following about Hb Hammersmith is FALSE:

A. It is an unstable Hb that causes denaturation of hemoglobin
tetramer;
B. The popypeptide chain mutation is - 3 chain:Phe22Ser;
C. It tends to cristallize in red blood cells;
D. Mutation allows heme to drop out off its pocket.
27. Which of the following about Hb Kempsey is FALSE:
A. It has high oxygen affinity;
B. It has low oxygen affinity;
A. Henz bodies are formed that damage the red blood cell
membrane;
B. Mutations prevents oxygen-related movement between the chains
and it can not give oxygen to tissues.

1. Which of the following chromosomal pathology is caused by the

duplication of part Of the chromosome?
A. Partial trisomy; B. Partial monosomy;
C. X chromosome trisomy; D. 12th chromosome.trisomy.

2. In some chromosomes the centromere is not in the middle of the

chromosome, however there is no significant difference in the length of the
arms. Which of the following corresponds to this type of chromosome?
A. Metacentric; B. Submetacentric; C. Acrocentric; D. Telocentric.

1. In some chromosomes the centrornere is located on one

end of the chromosome and such chromosomes have
only one arm. Which of the following corresponds to this type Of
chromosome?..
A. Metacentric; B. Submetadentri6; C. Acrocentric., D. Telocentric. •
1. Which of the following chromosomal trisomids are compatible with life?
A. 18 chromosome trisomy; B. 17 chromosome trisorny; C. 19 chromosome
trisomy; D. 20 chromosome trisomy.
-
2. In' which of the following organisms telocentric chromosomes are not
seen in normal conditions.
A. Humans; B. Flies; C. Birds; D. Snakes.

3. Which structural anomaly is followed by rearrangement results from

breakagee of nonhomologieal chromosome exchange of broken-off
segments ? A. Inversions; B. Duplications; C. Reciprocal translocations; D.
Deletions.

4. Which of the following genome anomalies are most common?

A. Poliploidy; B. Euploidy; C. Aneuploidy ; D. Monoploidy.
5. Which of the following causes chromosomal diseases?
A. Gene mutations; B. Genome mutations; C. Gene interaction;
D. Simultaneous action of multiple genes.

6. Which of the following types of chromosomes correspond to the dicentric

chromosomes? A. Duplicated; B. Homological; C. Abnormal; D. Diploid

7. Which of the following combinations of Robertsonian translocation is most

Common?.A. 13q14q and 15q22q; B. 13q14q and 16q15q; C. 13q14q and
14q21q; D. 13q14q and 11q12q.

8. In which phase of mitosis high quality G or R banding of the

chromosomes can be accomplished. A. Interphase; B. Prophase; C.
Anaphase; D. Telophase.

9. 24 types of chromosomes have been identified in humans. Which of the

following methods is used for their identification? A. Biochemical; B.
Population-statistical; C. Cytogenetic; D. Cloning.

10. Which type of inheritance is characterized with the transmission of a disease

from parents to children in every generation? A. Autosomal-recessive; B. X-
linked; C. Y-linked; D. Autosomal-dominant.

11. Which kariotype corresponds to the Turner syndrome? A. 47,XXX; B.

47,XXY; C. 46,XX; D. 45,X0.

12. Which of the following is a chromosomal mutation? A. Inversion; B.

Triploidy; C. Aneuploidy; D. Polyploidy.

13. Which of the following kariotypes is characteristic to Patau syndrome? A.

47,XX,18+; B. 47,XY,13+; C. 47,XXY; D. 45,X0.

14. Which pathology of a kariotype is lethal? A. X chromosome monosomy; B.

Trisomy in sex chromosomes; C. Monosomy in autosomes:, D. Trisomy in
autosomes.

15. Imprinting is a normal process, which is caused by the chromatin changes in

germline cells of only one parent. This change may be: A. Covalent
modification of DNA; B. Modification of RNA; C Modification of DNA
polymerase; D. Modification of RNA polymerase.

16. Which of the following types of mutations causes aneuploidy and

polyploidy. A. 'Gene; B. Genome; C. Chromosomal; D. Any type of mutation.

17. Which of the following medical examinations should a couple undergo,

who have a son with CF? A. Cytogenetic; B. Biochemical; C. X-ray; D.
Endoscopic

18. What is the name of a normal gene; which, when activated by a mutation, is
transformed to an oncogene. A. Supressor; B. Regulator; C. Modificator; D.
Protooncogene.
19. Upon karyotype analysis, Michael is found to be 47.XYY. The additional Y
chromosme likely arose as a result of which of the following events?
A) Maternal nondisjunction at meiosis I;
B) Maternal nondisjunction atmeiosis II;
C)Paternal nondisjunction at meiosis I;
D) Paternal nondisjunction at meiosis II.

23 Which disease is most commonly associated with a mutation-induced

dysfunction of an enzyme involved in removing sugar side-chains from
long-chain lipids:
A) Cystic fibrosis (CF); ,13).aalactosemia; C) Huntington disease; D) Tay-Sachs
disease.

24. In applying the Hardy-Weinberg equilibrium the following assumptions

are made:
A) The population issmall; B) There is no consanguinity; C) New mutations do
happen; D) There is significant movement of population.

25. Anticipation is characteristic of conditions caused by:

A) Microdeletions; B) Mitochondrial inheritance;
.C) Genomic imprinting; D) Trinuc.leotide repeat expansions.

1. Match the following clinical description- flat occiput, Brushfiel's spots,

atrioventricular canal cardiac defect, single palmar creases - with the
most likely chromosome abnormality:
A) Trisomy 13; B). Trisomy 18; C). Trisomy 21; D). Monosomy X.

2. Match the following clinical description - second trimester abortus

with cystic hygroma and massive hydrops - with the most likely
chromosome abnormality:
A) Trisomy 13;, B) Trisomy 18; C). Trisomy 21; D). Monosomy X. .
3. At the.early _stage of development X inactivation takes place in the
somatic cells of normal women. What is the aim of-this process?
A. It'suppresses X-linked genes;
B. It acti-vaSes X-1inked genes;
C. It allows variability -, of X-linked genes;
D. It allows equal distribution of X-linked genes in both sexes .

4. Hydatidiform Moles is an anomaly of placenta. Most of the cases are

diploid with 46,XX kariotype. Fran which parent do these chromosomes
come from?
A.40% are maternal;.
B. 50% are maternal and 50% are paternal;
C. All are maternal;;
D. All are paternal;

5. Which of the following is characterized by the junction of two

acrocentric chromosomes near the centromefe with the deletion of short
arms?
A. Deletion; B. Duplication;
C. Reciprocal translocation; D. Robertsonian translocation.

6. You have sent a blood sample of a dismorphic baby to the laboratory

 for the chromosomal analysis. The answer from the lab says that the
baby 46,XY kariotype, del (18)(q12). What is the reason the baby's
parents. should also do a blood analysis?
A. To determine whether anomaly is SeZenilia inborn or not;
B. To determine whether anomaly is paternal;
C. To determine whether anomaly is maternal;
D. To determine if there is a family history of the disease.

7. Which of the following statements is true concerning the function of proto-

oncogenes:
A) Proto-oncogenes serve as a signal for cellular apoptosis ;
B) Proto-oncogenes are components of cell growth pathways;
C) Protooncogenes are cell checkpoint regulators;
D) Proto-oncogenes repair DNA damage across the genome

8. Which disease is most commonly associated with a mutation-

induced cell-membrane transport protein alteration: A) Huntington
disease;_B) Galactosemia; C) Cystic fibrosis (CF); D)
Phenilketonuria

9. Which of the following properties of a gene is characteristic to many

types of cancer?
A. Duplications; B. Amplification;
C. Insertions; D. Translpocations

10.Which of the following processes will develop if the growth of cancer

cells becomes uncontrolled?
A.Invasion will occupy neighbor tissues;
B. There will be no invasion at all;
C. Invasion will occupy-all tissues;
D. Invasion will be suppressed.
11.What is the number of nucleotide base pairs in human haploid genome?
A. 6 million; B. 6 billion; C. 3million; D. 3 billion.

12.Which of the following is characteristic to the mitochondrial type of

inheritance.
A. The disease is more often in males;
B. The disease is transmitted only maternally;
C. All children of the affected males are also affected;
D. Only females are affected.

1. In which of the following conditions cytogenetic analysis is used?

A. Cataract; B. Anemia; C. Congenital anomalies; D. Diabetes.

1. Which of the following is the coding gene of a telomerase?

A Topoisomerase;. B. Helicase; C. Reverse-transcriptase;
D. RNS polymerase.

40. Which of the following processes is characterized by the uncontrolled

proliferation of the cells?
A. Neoplaia; B. Hyperplasia; C. Aplasia; D. Pypoplasia

1.Which of the following forms of trisomy are most common in live

births? A. Trisomy 16; B. Trisomy 17; C. Trisomy 18; D. Trisomy 21 .

2.In some chromosomes the centromere is in the middle of the

chromosome, and the arms are of equal size. Which of the following
corresponds to this type of chromosome?
A. Metacentric ; B. Submetacentric; C. Acrocentric; D. Telocentric.

3. In some chromosomes the centromere is very close to one end of the

chromosome, and one arm - is much Ionger than the other. Which of the
following corresponds to this type of chromosome?
A. Metacentric; B. Submetacentric; C. Acrocentric; b. Terocentrio.

4.In general, full monosomies are not compatible with life. Which of the
following chromosomal monosomies is -an e-xceOtion?.
A. X 'chromosome rnonosomy;
B. 21 chromosoMe monosomy;
C. 22 - chron'iosome monosomy;
D. 17 chromosome monosomy.

5. Which of the following chromosomal trisomies are compatible with

life? A. 17 chrornosoMe trisomy; B. 18 chromosome trisomy; C. 20
chromosome trisomy; D. 13 chromosome trisomy.

6. Which of the following chromosomal trisomies are compatible with

life? A. 12 chromosome trisomy; B. 17 chromosome trisomy; C. 19
chromosome trisomy; D. 21 chromosome trisomy.

7. In which of the following diseases cytogenetic analysis is

recommended most often. A. PKU; B. galactozemia;
C. Malignant neoplasia ; D. Diabetes mellitus.

8. 24 types of chromosomes have been identified in humans. Which of

the following methods is used for their identification? A.
Biochemical; B. Population-statistical; C. Spectral Kariotyping; D.
Cloning.
 9. Which method is used for the identification of mozaicism?
A.Cytogenetical; B. Twin studies; C. Population-statistical;
D. Biochemical.

10. Despite the fact that the reason of aneuploidy has not been
studied completely, it is well known that its most common
chromosomal mechanism is:
A. Mitotic nondisjunction in prophase;
B. Mitotic nondisjunction in anaphase;
C. Meiotic nondisjunction in prophase;
D. Meiotic nondisjunction in anaphase.

11. Which of the following type of inheritance is characterized by the

fact, that the sons of the affected fathers are healthy and the
daughters are affected? A. X-linked dominant; B. X-linked recessive;
C. Autosomaldominant; D. Autosomal-recessive.

12. Which of the following is a genomic mutation? A. Inversion; B.

Deletion; C. Aneuploidy;' D. chromosomal reconstructions.
13. In women what age is considered a risk factor of having a child with
chromosomal anomaly? A. 20-25; B. 2530; C. 30-35; D. 35-40.

14. Which of the following kariotypes is characteristic to Kleinfelter

syndrome? A. 45,X0; B. 47,XXX; C. 47,XXY; D. 47,XYY.

15. Which of the following kariotypes is characteristic to Edwards

syndrome. A. 46,XY,21 + ; B. 47,XXY; C. 47,XX,12+; D. 47,XX,18+.

16. Which of the following cell type is best for cytogenetic analysis. A.
Bone marrow cells ; B. Liver cells; C. Heart cells; D. Muscle cells.

17. The mutation in which of the following chromosome causes Patau

syndrome? A. 13 chromosome; B. 18 chromosome; C. 21
chromosome; D. 5 chromosome.

18. Insertion is the type of nonreciprocal translocation which is met

when one segment of the chromosome goes/shifts to:
A. the end of its own chromosome;
B. the beginning of its own chromosome;
C. the middle of its own chromosome;
D. the other chromosome and maintains its own orientation.
19. Which of the following processes causes strong proliferation of cells? A.
Aplasia; B. Neoplasia ; C. Hypoplasia; D. Pyperplasia.

20. Mutation of oncogenes, their overexpression or amplification in

somatic cells may cause:
A. Neoplasic transformation ; B. Hyperplasic transformation; C. Hypoplasic
transformation;
D. Aplasic transformation.

21. The first apoptotic gene associated with cancer was identified in
which of the following types of cancer.
A. Lymphoma ; B. Lypoma; C. Sarcoma; D. Myoma

22. Which of the following mechanisms is distorted during

autoimmune lymphoproliferation syndrome?
A. Photoreactivation; B. SOS-reparation;
C. Lymphocyte apoptosis; D. Excessive reparation.

1.Which of the following are oncomires. A. Transport RNA; B. Information

RNA; C. Micro RNA; D. Ribosomal RNA.

2. Which one of the following statements best describes most

malignant neoplasms?
A) They are associated with constitutional chromosomal
abnormalities;
B) They are of multifactorial etiology ;
C ) They ark due to an inherited mutation of an oncogene;
D) They result from activation of tumor suppressor genes.

3. What change(q in,the retinoblastoma (Rb) gene are required for the
formation of bilateral retirioblastomas in a young child?
A) Somatic occurrence -of a single mutation in one Rb allele in an otherwise
genetically normal cell;
B) Somatic occurrence of mutations in both Rb alleles in an otherwise
genetically normal cell;
C) Loss of function of one copy of the Rb gene due to an inherited
mutation;
D). Loss of function of both copies of the Rb gene due to inherited and
somatic mutations.

.26. Which disease is most commonly associated with a mutation-

induced alteration of a protein by
expansion of a segment encoded by an amplified region of trinucleotide
repeats:
A) Cystic fibrosis (CF); B) Huntington disease;
 C) Phenilketonuria (PKU); D) Tay-Sachs disease.

27. Which disease is most commonly associated with a mutation-induced

dysfunction of an enzyme that
converts one sugar to another:
A) Cystic fibrosis (CF); B) Galactosemia; C) Huntington disease
D)Phenilketonuria (PKU).

:28 Which one of the following combinations of active and inactive X

chromosomes is found in 49,XXXY individuals?
A)1 active and 3 inactive X chromosomes ;
B) 2 active and 2 inactive X chromosomes;
C) 3 active and 1 inactive X chromosomes;
D) 4 active and no inactive X chrOmosomes

29. Uniparental disomy (UPD) is best described by which one of the

following statements?
A) It may result in the expression of an autosomal recessive disease
in a heterozygote
B) It means that all the chromosomes in a diploid set have been
inherited from the same parent;
C) It usually is inherited from the mother in Down syndrome;
D) It occurs when both chromosomes in a pair have been inherited
from the same parent;

30 Match the following clinical description-stillborn infant with

holoprosencephaly, polydactily, midline cleft lip and palate - with the
most likely chromosome abnormality:
A) Trisomy 13; B) Trisomy 18; C)Trisomy 21;
D) Monosomy X.
1. Match the following clinical description - small-for-age infant with
small facies, congenital heart disease, peculiar hand positioning,
rocker-bottom heels - with the most likely chromosome abnormality:
A) Trisomy 13; B) Trisomy 18; C) Trisomy 21; D) Monosomy X.

2. Chromosomal aberrations include a change in the sequence of genes

on a chromosome. This is known as: A) a carrier; B) an inversion ; C). a
duplication;D) a translocation.

3. You have sent a blood sample of a dismorphic baby to the laboratory

for the chromosomal analysis. The answer from the lab says that the
baby 46,XY kariotype, del (18)(q12). What type of anomaly is in the
kariotype?
A. The arms of chromosome 18 are equally long;
B. The arms of chromosome 18 are equally short;
C. One arm of chromosome 18 is very long compared to the other;
D. The long arm of chromosome 18 is shorter that it should be.
4. What is the name of the process, when one segment of a
chromosome moves into the other chromosome and at the same time
maintains or inverts its orientation. A. Translocation; B. Duplication; C.
Inversion; D. Insertion.

5. Which of the following kariotypes is characteristic to Down syndrome?

A. 47, XX, 13 +, 47, XXX; B. 47, XX, 22+; 47,XXY ; C. 46, XY, 14-t (21/14),
47,XX,21+; D. 47, XXY; 47,XXY.

6. What happens to the extra X chromosome in patients with

additional X chromosome? A. The entire chromosome is inactivated ;
B. p arm is inactivated; C. q arm is inactivated; D. Region near the
centromere is inactivated.

7. When are cancer cells spread away from the original cancer site? A.
During myoma; B. During carcinoma; C. During adenoma; D. During
fibroma.

8. Telomerase loses its functions during the process of cell differentiation

and it becomes: A. long; B. short; C. thick; D. thin.

9. Telomerase expression gives to cancer cells by the property of: A.

limited proliferation; B. unlimited proliferation ; C. local proliferation;
D. partial proliferation.

40. Which of the following two chromosomes are involved in the

translocation, that causes formation of the so called Philadelphia
chromosome during chronic myeloid leukemia? A. 9 and 10; B. 9 and
20; C. 9 and 22 ; D. 9 and 21.

41. 24 . types of chromosomes have been identified in humans. Which of

the following methods is used for their identification? A. Biochemical;
B. Population-statistical;-C. Spectral Kariotyping ; D. Cloning.

42. Which of the following types of chromosomes correspond to the

dicentric chromosomes? A. Duplicated; B. Homological; C. Abnormal;
D. Diploid..

43. Which of the. following, combinations of Robertsonfart

translocation is most common? A. - 13q14q and 15q22q; B. 13q14q
and 16q15q; C. 13o14q and 14q21q; D. 13q14q and 11q12q.
44. Despite the fact that the reason of aneuploidy has not been
studied completely, it is well known that its most common
chromosomal mechanism is: A. Mitotic nondisjunction in prophase;
B. Mitotic nondisjunction in anaphase; C. Meiotic nondisjunction in
prophase; D. Meiotic nondisjunction in anaphase.

45. Which of the following causes chromosomal diseases? A. Gene

mutations; B. Genome mutations ; C. Gene interaction; D.
Simultaneous action of multiple genes.

46. Which of the following type of inheritance is characterized by the

fact, that the sons of the affected fathers are healthy and the
daughters are affected? A. X-linked dominant; B. X-linked recessive;
C. Autosomaldominant; D. Autosomal-recessive.

47. Which of the following is characteristic to the mitochondrial type of

inheritance. A. The disease is more often in males; B. The disease is
transmitted only maternally; C. All children of the affected males are
also affected; D. Only females are affected.

48. Which kariotype corresponds to the Turner syndrome?

A. 47,XXX; B. 47,XXY; C. 46,XX; D. 45,X0.

49. Which of the following chromosomal pathology is caused by the

duplication of part of the chromosome?
A. Partial trisomy; B. Partial monosomy;
C. X chromosome trisomy; D. 12 th chromosome trisomy.

50. In some chromosomes the centromere is not in the middle of the

chromosome, however there is no significant difference in the
length of the arms. Which of the following corresponds to this
type of chromosome? A. Metacentric; B. Submetacentric; C.
Acrocentric; D. Telocentric.

51. In general, full monosomies are not compatible with life. Which of
the following chromosomal monosomies is an exception?
A. X chromosome monosomy ;
B. 21 chromosome monosomy;
C. 22 chromosome monosomy;
D.17 chromosome monosomy.

52. Which of the following chromosomal trisomies are compatible with

 life?
A. 17 chromosome trisomy;
B. 19 chromosome trisomy;
C. 20 chromosome trisomy;
D. 13 chromosome trisomy.

53. In which of the following diseases cytogenetic analysis is

recommended most often. A. PKU; B. galactozemia;
C. Malignant neoplasia ; D. Diabetes mellitus.

54. In which of the following organisms telocentric chromosomes are

not seen in normal conditions. A. Humans; B. Flies; C. Birds; D.
Snakes.

55. Which pathology of a kariotype is lethal? A. X chromosome

monosomy; B. Trisomy in sex chromosomes; C. Monosomy in
autosomes ; D. Trisomy in autosomes.

56. Which of the following kariotypes is characteristic to Edwards

syndrome.
A. 46,XY,21 + ; B. 47,XXY;
C. 47,XX,12+; D. 47,XX,18'.

57. Which of the following cell type is best for cytogenetic analysis.
A. Bone marrow cells ; B. Liver cells;
C. Heart cells; D. Muscle cells.

58. The mutation in which of the following chromosome causes Patau

syndrome? A. 13 chromosome; B. 18 chromosome; C. 21
chromosome; D. 5 chromosome.

59. Which of the following processes causes strong proliferation of cells? A.

Aplasia; B. Neoplasia ; C. Hypoplasia;
D. Pyperplasia.

60. Which of the following processes will develop if the growth of

cancer cells becomes uncontrolled?
A. Invasion will occupy neighbor tissues;
B.There will be no invasion at all;
C. Invasion will occupy all tissues;
D. Invasion will be suppressed.
61. Mutation of oncogenes, their overexpression or amplification in
somatic cells may cause: A. Neoplasic transformation; B. Hyperplasic
transformation; a Hypoplasic transformation; D. Aplasic
 transformation.
62. The first apoptotic gene associated with cancer was identified in
which of the following types of cancer.
A. Lymphoma ; B: Lyporna; C. Sarcoma; D. Myoma

1. Which of the following mechanisms is distorted during

autoimmune lymphoproliferation syndrome?. A.
Photoreactivation; B. SOS-reparation; C. Lymphocyte apoptosis ; D.
Excessive reparation.

2. Which of the following are oncomires. A. Transport RNA; B.

Information RNA; C. Micro RNA ; D. Ribosomal RNA.

3. Upon karyotype analysis, Michael is found to be 47.XY.Y. The additional

V chromosome likely arose as a result of which of the following events?
A) Maternal nondisjunction at meiosis I; B) Maternat nondisjunction at
meiosis II; C)Paternal nondisjunction at meiosis I;. D) Paternal
nondisjunction at meiosis

4. Which of the following statements is true concerning the function of

proto-oncodenes:
A) Proto-oncogenes serve as a signal for cellular apoptosis -;
B).Proto-oncogenes are components of cell growth pathways;
C) Proto-oncogenes are cell checkpoint regulators;
D) Proto-oncogenes repair DNA damage across the genorne.

5. What change(s) in the retinoblastoma (Rb) gene are required for the
formation of bilateral retinoblastomas in a young
child?
A) Somatic occurrence of a single mutation in one Rb allele in an
otherwise genetically normal cell;
B) Somatic occurrence of mutations in both Rb alleles in an otherwise
genetically normal cell;
C) Loss of function of one copy of the Rb gene due to an inherited
mutation;
D) Loss of function of both copies of the Rb gene due to inherited
and somatic mutations.

6. Which disease is most commonly associated with a mutatiori-

induced dysfunction of an enzyme involved in
removing sugar side-chains from long-chain lipids:
A) Cystic fibrosis (CF);
B).Galactosemia;
C) Huntington disease;
D) Tay-Sachs disease.
7. Which disease is most commonly associated with a mutation-
induced alteration of a protein by expansion of a
segment encoded by an amplified region of trinucleotide repeats:
A) Cystic fibrosis (CF);
B) Huntington disease;
C) Phenilketonuria (PKU);
D) Tay-Sachs disease.
8. Which one of the following combinations of active and inactive X
chromosomes is found in 49,XXXY individuals?
A )1 active and 3 inactive X chromosomes;
B) 2 active and 2 inactive X chromosomes;
C) 3 active and 1 inactive X Chromosomes;
D) 4 active and no inactive X chromosomes.

9. Uniparental disomy (UPD) is best described by which one of the

following statements?
A) It may result in the expression of an autosomal recessive disease
in a heterozygote;_
B) It means that all the chromosomes in a diploid set have been
inherited from the same parent;
C) It usually is'inherited from the mother in Down syndrome; D) It
occurs when both chromosomes in a pair have been inherited from
the same parent ;

10. What is the name of the process, when one segment of a

chromosome moves into the other chromosome and at the same
time maintains or inverts its orientation. A. Translocation; B.
Duplication; C. Inversion; D. Insertion.

11. Hydatidiform Moles is an anomaly of placenta. Most of the cases are

diploid with 46,XX kariotype. From which parent do these
chromosomes come from? A.40% are maternal;. B. 50% are maternal
and 50% are paternal; C. All are n.iaternal;;_D. All are paternal;

12. At the early stage of development X inactivation takes place in the

somatic cells of normal women. What is the aim of this process? A. It
suppresses X-linked genes; B. It activates X-linked genes; C. It allows
variability of X-linked genes; D. It allows equal distribution of X-linked
genes in both sexes.

13. What happens to the extra X chromosome in patients with additional

X chromosome? A. The entire chromosome is inactivated; B. p arm is
inactivated; C. q arm is inactivated; D. Region near the centromere is
inactivated.
 14. Telomerase expression gives to cancer cells by the property of: A.
limited proliferation; B. unlimited proliferation; C. local proliferation;
D. partial proliferation.

15. Match the following clinical description - second trimester abortus

with cystic hygroma and massive hydrops - with
the most likely chromosome abnormality:
A) Trisomy 13; B) Trisomy 18; C). Trisomy 21 D). Monosomy X.

1. You have sent a blood sample of a dismorphic baby to the laboratory

for the chromosomal analysis. The answer from The lab says that the
baby 46,XY kariotype, del (18)(q12). What is the reason the baby's
parents should also do a blood analysis?
A. To determine whether anomaly is ra a B a boce inborn or not ; B. To
determine whether anomaly is :Paternal;
C. To determine whether anomaly is maternal;
D. To determine if there is a family history of the disease.

2. You have sent a blood sample of a dismorphic baby to the laboratory

for the chromosomal analysis. The answer from the lab says that the
baby 46,XY kariotype, del (18)(q12). What type of anomaly is in the
kariotype?
A. The arms of chromosome 18 are equally long;
B. The arms of chromosome 18 are equally short;
C. One arm of chromosome 18 is very long compared to the other;
D. The long arm of chromosome 18 is shorter that it should be.

3. Which of the following is characterized by the junction of two

acrocentric chromosomes near the centromere with the deletion of
short arms? A. Deletion; B. Duplication; C. Reciprocal translocation; D.
Robertsonian translocatio n.

4. Which of the following is the most common fatal autosomal-recessive

genetic disorder of children in white populations:
A. Pheriilketonuria; B. Cystic Fibrosis; C. DMD; D. Tay-Sachs
1. Which'defect is responsible for the accumulation. ofthick mucus in lungs
during cystic fibrcisis?
A. Dysfunction of cilia epithelium;
B. Undeveloped muscles of the respiratory system;
C. Increased adsorption Of sodium; ,
D. Decreased immunity.

1. In which biological area is sodium and chloride

measured during cystic fibrosis?
A. Sweat; B. Urine; C. Lymph; D.Blood.
2. Which clinical phenotype is not characteristic to cystic fibrosis
patients? A. Respiratory problems; B. Idiopathic chronic hepatitis; C.
 Clubbing of fingers; D. Mental retardation.

3. Which of the following organs are the main site of pathology in cystic
fibrosis? A. Lungs and pancreas; B. Lungs and Liver; C. Pancreas and
adrenal grand; D. Lungs and kidneys.
4. Which of the following factors is responsible for the development of
respiratory problems in cystic fibrosis? A. Avitoaminosis; B. Accumulation
of thick mucus; C. Increased immunity; D. Anemia.

5. How many classes of mutations in CFTR polypeptide are there in Cystic

Fibrosis? A. 5; B. 7; C. 6; D. 4.
6. Measurement of:toncentration of which ions is important for the
diagnosis of cystic fibrosis? A. Chloride and potassium; B. Sodium and
chloride; C. Sodium and Magnesium; D. Calcium and sodium.
7. All of the following is charachteristic to Cystic Fibrosis EXCEPT:
A. Pulmonary and pancreatic defects;
B. Congenital bilateral absence of the vas deferens;
C. Meconium ileus;
D. Progressive neurodegeneration and muscular atrophy.

1. Which of the following diseases is characterized with X-linked inheritance, is

severe, progressive, quite common and incurable?
A. Thalassemia; B. CF; C. DMD; D. PKU.
2. DMD is most severe and most common form of X-linked recessive muscle
disorders. BMD is a milder form, charachterized by: A.) Brittle bones and
arthritis; B.) Later onset and faster progression;
C. Quicker onset and faster progression; D. Later onset and slower progression.

1. Mutation of which substance synthesizing genes can

cause DMD and BMD? A. Kreatin-kinase; B.
Dystrophin; C. Cholesterol; D. Phenilalanine.
2. In which of the following tissues is dystrophin protein
synthesized in highest amounts? A. Connective; B. Muscle; C.
Epithelial; D. Parenchymal.

3. What is the apptoximate age of survival of patients with DMD? A. 10;

B. 15; C. 20 ; D. 25.
4. What age are BMD symptoms manifested? A. 3-5 years; B. 7-10 years;
C;16-18 years; D. 22-24 years.
5. In the preclinical and early stages of DMD which substance is grossly
elevated in blood serum? A. Dystrophin; B. Creatine kinase ; C.
Cholesterol; D. Penilalanine.
6. Which of the following diseases is characterized with progressive
degeneration of memory and higher cognitive functions in mainly elderly
age?
A. Phenilketonuria; B. Tay-Sachs disease; C. Alzheimer's disease; D.
 Homocystinuria.

1. When is Alzheimer's disease (AD) most likely to strike?

A. For women, after menopause;B. Age 65 and older;
C. During childhood and adolescence;p: Between ages 20-40.

1. There are at least three slightly different alleles of the APOE gene.
The Major alleles are called: A. el, e2, and e3; B. e2, e3, and e4;
C. el, e3, and e4; D: e2, e4, and e5.
• 20. -Alzhei.mer disease is a degenerative disease of-the brain that causes
dementia, which is a gradual loss of memory, judgmnt and ability to
function. It is an increased risk from variations of the gene: A. APOE;
B. DHFR; MTHFR; D. CFTR.
•
21. Which form of Alzheimer's disease is caused by the mutation of amyloid
precursor protein and preselin gene? A. Combined;B. Recessive; C.
Codominant; D. Dominant.
22. The APOE gene provides instructions for making a protein called:
A. Apopoprotein E; B. Apolipoprotein E; C. Adenine dinucleotide phosphate
E; D. Acetyl phosphate.

23. • Most cases of early-onset Alzheimer disease= are caused by gene

mutations. Which statement is true concerning of Alzheimer's disease
patients?
A. All people with Alzheimer disease have the APOE e4 allele;
B. All people who have the e4 allele will develop the disease;
C. APOE e4 increases the risk of developing Alzheimer's, but it
does not cause the disease; D.Everyone who carries the APOE
gene develop Alzheimer's disease.

24. Which of the following is not an early warning sign for Alzheimer's?
A. Confusion;
B. Memory loss;
C. Language deterioration;
D. Reduced motor skills.

25. Which of the following tests is not used in the diagnosis of Alzheimer's?
A. Medical history;
B. Mental status evaluation;
C. Cardiovascular stress test;
D. Neurological examination.

26. Which of the following is most characteristic to the brain of Alzheimer's

disease patients?
A. Cleavege of amyloid; B. Tangles of tau-protein;
C.Deficiency of apolipoprotein; D. Deficiency of preselin.

27. How many genes are involved in the pathogenesis of Alzheimer's

Disease: A. 2; B. 3; C. 4; D. 6.
28. Which of the following substances' increase the risk of
developing Alzheimer's Disease?

A) Alpha-secretase; B. Phenylalanine; C. Tau-protein; D.Keratin-

kinase.

29. Which gene is not responsible for the autosomal dominant

form of Alzheimer's disease:

A. APP; B. PSEN1; C. PSEN2; D. APOE.

30. Which of the following protein synthesizing genes is responsible for the
age at onset of Alzheimer's disease? A. Preselin; B. Amyloid; C.
Apolipoprotein; D. Alpha-secretase.

31. Which category does an Alzheimer's disease belong to?

A. Monogenic; B. Hemyzygoti.c;C. Multifactorial; D. Modificational.
32. Which is NOT characteristic to mtDNA?
A. Is a circular chromosome; B. Can be inherited both maternally and
paternally;
C. Has no reparation system;' D. Is 16,5 kb long.
33. Which is NOT true about mtDNA? A.) It mutates 10 times more often than
nuclear DNA; B.) Contains 37 genes; C). Contains only exons; D.) Contains
only introns.

34. Which of the following is NOT true about anticipation?

A. The affected gene is passed from generation to generation;
B. Number of repeats may expand to a pathogenic degree;
C. Causes later age at onset an decreased severity;
D. Causes earlier age at onsetand increased severity.
3.5. Which of the following diseases are NOT characterized by anticipation:
A, Huntington diseasa; -
B. Myoptonic dystrophy;
C. Alzheimer's disease;
D. Fragile X sYndrotnq.
1. How are mtDNA distributed to the daughter
cells?
A. Regularly; B) Randomly; C. Equally;
D. In a specific order.

2. Which of the following paternally inherited gentic information is

eliminated from the embrio?
A. X chromosome; B. mtDNA; C. Excess DNA;
D. Unbalanced translocation.
3. Which of the following mutation has not been
identified in mtDNA? A. Missense; B..Point; C.
Duplication; D. Robertsonian translocation.
•
1. Which of the following is characterized by the
"genetic bottleneck"? A. Blastocyte;
B.. Oocyte; C. Spermatocyte; D. Chorion.
2. Which of the following is characteristic to the " bottleneck" of the
mtDNA?
. A. Reduction; B. Elimination of mtDNA in the embrio;
C. Total amplification after reduction; D. Amplification.

1. Which of the follwing,clinical phenotypes is characteristic to the

mutations of mtDNA?
A. Neural and parenchimal disorders; B. Neuromuscular disorders;
C. Disorders of the sensory organs; D. Skeletal deformations.
1. Which of the following is NOT a triplet repeat disorder?
A. Fragile X syndrome;
B. Huntington disease;
C. Myotonic dystrophy;
D. Duchenne muscular dystrophy.
2. Which of the following is characteristic to the expansion of
unstabel repeat sequences?
A. Haploinsufficiency;
B. Locus heterogenity;
C. Anticipation;
D. Mozaicism.

3. Which of the following clinical defects is characteristic to the expansion of

unstabel repeat sequences?
A. Neurological; B. Hematological;
C. Respiratory; D. Ophtalmological.
4. Which of the following is characteristis to Fragile X
syndrome?
A. Mental retardation: B. Cataracts; C.Cardiomyopathy;
D. Scoliosis.

5. Expansion of which of the following trinucleotide sequences

causes Fragile X syndrome?
A. CTC; B. TGG; C. CGG; D. CAG.

6. Which of the following processes causes inhibition of

transcription in Fragile X syndrome? A. Deletion;
B: Duplication; C. Methylation of cytosines; D. Inversion.
7. What is the normal number of copies of CGG repeat in humans?
A. 5-20; B. 60; C. 200; D. 500.

8. Fragile X syndrome and Huntington disease are caused by: A.

Tandem duplication; B. Fusion gene; C. Expanding triplet repeat;
D. Deletion.
9. In which of the following regions of the gene does CGG expansion take
place in Fragile X syndrome? A. Tranlsted region; B. Noncoding; C. Exon;
 D. Ternimator.

51. How does CGG expansion influences the function of FMRP protein in Fragile
X syndrome? A. FMRP gains the function; B. FMRP aquires a novel property;
C. FMRP is expresses ectopically; D. FMRP loses the function.
52.' Expansion of which of the following trinucleotide sequences
causes Friedreich ataxia? A. GAA; B. -COG; C. CGT; D.
TAT.
1. Which of the following is NOT characteristic to Friedreich ataxia? A.
Mental retardation; B. Incoordination oflimb movements; C. Foot
deformation; D. Scoliosis.
2. Which of the following proteins loses its function in
Friedreich ataxia?
A. Hemoglobin; B. Hexosaminidase;
C. Frataxin;
D. Hydroxilase.

3. Which of the following is NOT characteristic to myotonic

dysrophy? A. Muscle weakness; B. Cataracts; C. Long limbs;
D. Hypogonadism.
-56.- Which of the following is true about myotonic dystrophy?
A. Congenital severe form can be passed only from the mother;
B. Congenital severe form can be passed only from the father;
C. Congenital severe form can be passed from the mother and the
father;
D. It is not characterized by anticipation.
1. Which protein is encoded by the gene that causes
myotonic dystrophy? A. Dystrophin; B. Protein kinase;
C. Creatine kinase; D. Cholesterol.

2. Which of the following is caused by the expansion of the

tetranucleotide repeat sequence?
A. Fragile X syndrome;
B. Huntington dise'ase;
C. Myotonic dystrophy 1;
D. Myotonic dystrophy 2.
3. Which of the following type of inheritance is.characteristic to
Huntington disease? A. Autosomal dominant; B. Autosomal recessive;
C. X-linked dominant; D. X-linked recessive.
4. In Huntington disease, the mutant proteins with expanded polyglutamine
sequances are:
A. Due to loss-of-function mutations;B. Novel property mutants;
C. Due to gain-of-function mutantions;D. Expressed in abnormal place.

1. Which of the following diseases is characterized with

retardation and requires limiting intake of a particular acid? A.
Galactosemia; B. Cystinuria disease;
C. PRO; D. Familial hypercholosterolemia.
 2. In which of the following diseases mass newborn screening is justified?
A. PKU; B. Hyperchromatosis; C. DMD; D. Turner syndrome.

3. PKU falls under which of the following classes, of inherited metabolic

digerders?
A. Carbohydrate disorders; B. Amino acid disorders ; C. Organic acid
disorders; D. Urea cycle defects.

4. All of the following statements concerning the maternal PKU syndrome

is correct EXCEPT:
A.) Affected children are born overweight
The syndrome results from untreated PKU in the mother during the
pregnancy;
D. Affected children may have severe heart defects.

5. Which autosomal-recesive disease characterized by mental retardation, will

mheterozygous children develop, if the homozygous mother did not follow diet
restrictions during her pregnancy?
A. Muccopolisaccharidosis; B. PKU
C. Cystic fibrosis;D. Sendoff's syndrome. -
6. Which of the following diseases.should be treated immediately after
the birth, or otherwise inevitable severe mental
retardation will develop:
A. PKU;
B. Retinoblastoma;
C. Tay-Sachs disease; D. Thalassemia.
7. Which of the following statement about
Pheitylketonuria is true: .
A. Is the only cause of a raised phenylalanine in the
neonatal period;
B. Requires lifelong treatment;
C. Is part of the same pathway as cholesterol pioduction;
D. Is a cause of epilepsy and eczema.
-r,
8. Which of the following treatment strategies can prevent the
neurological complications, caused by the impaired
phenylalamne metabolism?
A. Diet;
B. enzyme replacement therapy;
C. Inhibition;
D. gene therapy
.
9. which of the following dseases is characterized with retardation and
requires limiting intake of a particular acid?
A.galactosemia
B. Cystinura disease;
C) PKU
 D. Familial hypercholosterolemia.

10. In which of the following diseases the site of gene mutation is not the
same as the site of pathology:
A. Alpha-thalassemia;
B Beta-thalassemiaC. Methemoglobinemia;
D. PKU.

1. Which disease is most commonly associated with a mutation-

induced dysfunction of an enzyme involved in removing sugar
side-chains frotri long-chain lipids?
A. Cystic fibrosis (CF);13. Homocystiuria; C. PKU;D. Tay-Sachs disease.

1. Deficiency of which of the following substances can cause lysosornal.

storage diseases?
A. Lipoprotein; B ATP; .C. Oxygen; D. Hydrolases.

1. Accumulation of which of the following substances is caused by

the deficiency of hydrolytic enzymes? A. Iod; B. ATP; G.
Nucleotide; D. Gan2lioside.
2. Which organ is the site of pathology in Tay-Sachs disease: A. Liver; B.
Brain; C. Kidneys; D. Muscles.
3. Which;disease is most commonly associated with a mutation-
induced dysfunction of an enzyme involved in removing sugar side
chains from long chain lipids

A. Cystic fibrosis
B. Galactosemia
C. Huntington disease;
D. Tav-Sachs disease.

1. In which organ is the site of gene expression in . Saes disease:

A. Liver ; B. Brain; C, Kidneys;D. Muscles.

12-Which of the following genetic diseases is characterized with

progressive neonatal eurological degeneration, b l i n d l e s s a n d
severe clinical course
A. Tay-Sachs; B. PKU; * C._ Cistic Fibrosis; 1D. Duchenne Muscular
Dystrophy.
1. Which enzyme, responsible for lysosomal storage disease, consists of
alpha and beta subunits and an activator protein?
A. Hydrolase; B. Iduronidase; C. 1-lexosaminidase; D.
Hydroxilase.
2. How many genes are responsible for the synthesis of hexosaminidase,
deficiency of which causes Tay-Sachs disease: A. 2; B. 3; C. I; D.
5.
 3. Which organ is damaged specifically by the deficiency of beXosaminidase?
A. Brain; B. Cerebellum; C. Medulla;D. Spinal cord.

16. Which of the following statement is correct:

A. Many Hb variants are harmless;
B. The types of mutation occurring in the hemoglobinopathies are
very limited;
C. The tertiary structure of Hb has undergone many changes during
evolution;
D. Point (missense) mutations are the usual cause of abnormal Elb in
the sidkling disorders.
17. Which statement about sickle-cell disease is true:
A. The sickling effect of red blood cells is the result of abnOrmal Hb
binding with the red blood cell' membrane; Life threatening
thrombosis can occur;
A. Splenic infarction may occur but this lias little Clinical
consequehce;
B. Deletions are the usual cause of abnormal Hb in the sickling
disorders.
18. Which statement about sickle-cell disease is true:
A. The sickling effect of red blood corpuscles is the result of abnormal
Hb binding with the red blood cell membrane;
B. Hb S differs from normal Hb A by a single amino-acid
substitution:
. C. Splenic infarction may occur but this has little clinical consequence;
D. Point (missense) mutations are the usual cause of abnormal Hb in the
sickling disorders.
19. The worldwide distribution of sickle cell anemia and 0-
thalassemia coincides with that of:
A. influenza; B. cholera;
C. multiple sclerosis;' D. malaria.
20. Sickle cell anemia is caused by a change in the amino acid sequence of the
two beta chains in the hemoglobin molecule. How many amino acids have
been changed in each beta chain„compared to normal hemoglobin?
A. 1. B. 10; C. hundreds; D. thousands.

21. What causes the anemia in sickle cell disease?

A. An inability of the red cell to reduce organic peroxides;
B. An abnormal hemoglobin which polymerizes and irreversibly
injures the red cell ;
C. Inability of red blood cells to transport oxygen;
D. Insufficient Hb A and excess unpaired a chains.

1. Which change in the polipeptqcde chain is

characteristic to Hb C: A. Bchain:Glu6Val;
B. B chainG1u6Lys;
chain:His92Tyr;
 D. p chain:Glu22Lys
2. Which of the following is characteristic to Hb
C:
A. Heinz bodies damage the red blood cell membrane;
B. It is less soluble than Hb A and tends to
crystallize in red blood cells;
A. Mutation allows heme to drop out off its
pocket;
B. They aggregate, block blood flow and cause
local ischemia.

24. Persons with Hb SC disease are referred to as:

A. Compouind heterozygotes;
b True homozygotes; C. Heterozygotes; D. Hemizygous.
25. Patients with Hb SC disease:
A. Frequently die in utero from complications of the
hemoglobinopathy;
B. Have a different mutation in each copy of their j3-globin gene,
though both are in the same codon;
C. Never experience sickle cell crises;
D. Could not have a child with sickle dell disease.
26. Which of the following about Hb Hammersmith is FALSE:
A. It is an unstable Hb that causes denaturation of hemoglobin
tetramer;
B. The poFypeptide chain mutation is - p chain:Phe42Ser;
C. It tends to cristallize in red blood cells;
. D. Mutation allows heme to drop out off its pocket.
27. Which of the following about Hb Kempsey is FALSE:
A. It has high oxygen affinity; B. It has low oxygen affinity;
C. Henz bodies are formed that damage the red blood cell membrane;
D. Mutations prevents oxygen-related movement between the chains and it
can not give oxygen to tissues.

Which disease is caused by the mutation of a gene, responsible for the

synthesis of alpha subunit of hexosaminidase?
A. Sendoffs disease; B. Hunter disease; C. Cystic fibrosis; D. tay sacs
7
Vhich class of proteins does hexosaminidase(protein
responsible for Tay Sachs disease) belong to A . T i s s u e -
specific; B. Housekeeping; C. b Memrane;D.
Chromosomal

Which rare disease is caused by the mutation of a gene, responsible for

the s-ynthesis of, beta subunit of hexosaminidase and the activator protein?
A..Tay-Sachs; B. Sendoff's disease; C. Hunter disease;D. Cystic fibrosis.
,
24. What age do Tay-Sachs patients die most often: A. 2-4 years;
B. 7-8 years; C:10-12 years;D. 15-20.
 25. Which genetic factor is responsible for the late onset neurological
symptoms of Tay-Sachs disease?
A. Residual activity of alleles;B. Complete penetrance;
C. Complete expression; D. Complete dominance.
26. Which of the following is not characteristic to Tay-Sachs disease:
A. 3 alleles account for 99% of the Ashkenazi Jewish alleles, and 2
other alleles account for about 50% of the alleles in- other populations;
B. It results from the inability to degrade a sphingolipid, GM 2
ganglioside;
C. The disease mostly affects brain; D. Affected infants die during
the first year of their life.
27. Tay-Sachs disease shows autosomal recessive inheritance. Parents of a
newly diagnosed affected child are referred for genetic counseling. It
would be correct to tell them that:
A. The probability that their next child will be affected is 1 in 2.
B. The probability that the older unaffected sister of the affected child
is a carrier is 1 in 2.
C. The fact that their last child was affected means that their next
three children will not be affected.
D. The probability that each parent is a carrier is 1.
28. A couple has a child with Tay-Sachs disease, an autosomal recessive
condition associated with lack of the enzyme hexosaminidase A. All of the
following statements are likely to apply to his family EXCEPT:
A. heterozygotes are mildly affected with Tay-Sachs disease; -
B. Heterozygotes can be detected because their levels of
hexosaminidase A are intermediate between those of normal
homozygotes and affected homozygotes;
C. Prenatal diagnosis is available by measuring the level of
hexosaminidase A in amniocytes;
D. Siblings of the affected child are at low risk to have affected
children themselves.'
29. Tay-Sachs disease is caused by an autosomal recessive allele that results
in deficiency of the enzyme hexoaminaase A. Symptoms include blindness
and retardation. Onset of symptoms begins at aboui six months of age,
and death results in early childhood. Genetic counseling of at-risk
populations (Ashkenazic Jews At French Canadians in Quebec) has
reduced the frequency of the diseae. What is the probability that a
homozygous normal man and a carrier female will have Tay-Sachs child?
A. 0%; B. 25%; C. 50%; D. 75%.
30. Tay-Sachs disease is caused by an autosomal recessive allele that results
in deficiency of the enzyme hexoaminase A. Symptoms include blindness
and retardation. Onset of symptoms begins at about six months of age,
and death results in early childhood. Genetic counselling of at-risk
populations (Ashkenazi Jews and French Canadians in Quebec) has
reduced the frequency of the disease. Alicia's parents are both normal, but
she had a sister who died of Tay-Sachs. What is the probability that Alicia
is a carrier of the Tay-Sachs allele? .
A. 0%; B. 25%; C. 50%; D. 75%.
31. Which genetic factor is responsible for less severe neurological
complications and ataxia in Tay,SaChs disease?
A. Complete penetrance;B. Complete expression;
C. Complete dominance;D. Residual activity of alleles.
32. Which of the following is a lysosomal storage disorder presenting with
multisysterri-deterioration causing hearing, vision, joint and cardiovascular
dysfunction?
A. Ornithine transcarbamilase (OTC) disorder; B. Wilson disease;
C. Mucopolvsaccharidoses (MPS); -D. Hemochromatosis.
33. Mucopolusaccharides:
A. Are long chains of sugar molecules called Rlycosaminoglycans;
B. Are degraded by an enzyme HexA;
C. Are synthesized in the alveoles of the lungs;
D. Are easily degraded under high temperature conditions.

34. Which is not example of muchopoksaccharidoses:

A. Hurler syndrome; B. Hunter syndrome; C. Sandhoff disease
D. Scheie syndrome.
—35. Hurler syndrome is often classified as a lysosomal storage disease, and is
clinically related-to:
A. GM2 ganiliosidoses;B. Glucose-6-phosphate dellydrogenase deficiency;
C. Hunter syndrome;D. Lesch—Nyhan syndrome.
36. Which does NOT describe Hurler synarome:.
A. Coarse face; B. Skeletal deformation; C. Diagnosed early in life; D.
Death before the age of 3 years.
1. In Hurler syndrome which of the following
enzyme is absent? A. a-L-Iduronidase;
B. Iduronate sulfate; C. Heparin;
D. Dermatin
2. Hepatomegaly and splenomegaly is an
important feature of: A. Hurler syndrome; B.
Homocystinuria; C. Galactosemia;
D. Phenylketonuria.

39. All of the following are true about homocystinuria EXCEPT:•

A. It is a vitamin-responsive disease and the administration of large
amounts of pyridoxine usually ameliorates the disease;
B. It is characterized with dislocation of the Jens, mental
retardation, osteoporosis, long bones, and thromboembolism of both
veins and arteries;
C. It is often confused with Madan Syndrome;
D. Deficiency of homocysteine causes death before the age of 5
years.

40. Homocystinuria falls under which of the following classes of inherited

metabolic disordeA?
 A. Organic acid disorders; B. Urea cycle defects; C. Carbohydrate disorders;
D. Amino acid disorders.

41. Which of the following is true about a 1-Antitrypsin (dIAT) deficiency:

A. It is X-linked recessive disorder; B. It mainly affects respiratory and
digestive systems;
A. It is autosomal recessive condition associated with a substantial
risk of emphysema .and cirrhosis of the liver ;
B. It is autosomal recessive disorder associated with mental
retardation.
42. In arAntitrypsin (al AT) deficiency which organ is
a site of a/A T gene expression: A. Liver;B. Lungs;
C. Brain; D. Muscles.
43. Which is the most common allele associated with a i-Antitrypsin AT)
deficiency:
A. F allele; B. Z allele; C. A allele;D. T allele.
44. In which of the following populations is OAT deficiency most prevalent?
A. Asians; B. White populations; C. African Americans;
D. Ashkenazy Jews.
45. What is the primary function of a t-AntitrYPSin protein?
A. It binds and inhibits elastase, released from neutrophils of the lower
respiratory tract;
B. It forms long bead-like necklaces of polymers in lysosomes;
C. It degrades elastase in hepatocytes; D.It allows formation of free
elastase in the lower respiratory tract.
46. The liver disease associated with Z jiallele in at-Antitrypsin deficiency is a:
A. Novel property mutation;B. Gain-of-function mutation;
C. Loss-of-function mutation;D. Effect of modifiet genes.
47. Which of the following is NOT true about a 1-Antitrypsin (OAT)
deficiency?
A. It is an ecogenic disease;
B. Lifespan of people with Z/Z genotype is dramatically shortened
by cigarette smoking; _
C. Smoking reduces a 1-Antitrypsin affinity for elastase by 2000-fold;
D. Recent findings have identified modifier genes for al -Antitrypsin
deficiency.
48. Which of the following is NOT a treatment for a i-Antitrypsin deficiency?
A. Stop cigarette smoking; B. Infusion of normal alAT;
C. Liver transplantation in case of severe cyrrosis;D. Dietary restriction.
49. Which of the following is primarily use for the treatment of storage
diseases?
A. Surgery; B. Enzyme replacement therapy ; C. Chemotherapy; D.
Gene therapy.
50. Which method is primarily used for the treatment of substrate
accumulation disorders?
A. Surgical method; B. Enzyme replacement therapy;C. Chemotherapy;
D. Gene therapy.