Genetic different

1. In beta thalassemia there is the

Failure to produce beta globin chains

2. Which of the following proteins is responsible for the age at onset of

Alzheimer disease?
Apolipoprotein

3. A child with cleft palate, heart defect, extra fingers, scalp defect (absent skin
exposing underlying distance between the eyes is found to have 46
chromosomes with extra material on one homologue of chromosomal
abnormality is best described by which of the following?
Unbalanced rearrangement

4. Mark is affected with Duchene muscular dystrophy, an X- linked disorder.

Mutation analysis substitution in exon 1 of the DMD gene, introducing a
premature stop codon. The most likely which of the following ?
Length of DMD- encoded protein

5. Where does tau- protein synthesis neurofibrillary tangles in Alzheimer

disease?
Intracellulary

6. Which of the following is characteristic to the expansion of unstable repeat

sequences?
Dynamic nature

7. Which of the following is NOT a treatment for thalassemia

Spleen transplantations
8. Why would you predict that half of the human babies born will be male and
half will be females?
Because of the segregation of the X and Y chromosomes during male
meiosis

9. In retinoblastoma, the “second- hit” mutation is

Always somatic

10.Sarah has sickle cell anemia, caused by a single nucleotide change in the beta
globin chain of hemoglobin. She has splenic infarctions, limb pain, early renal
failure, splenomegaly, weakness and lassitude. The effect of this single
nucleotide change on multiple organ systems is an example of
Pleiotropy

11.Which of the following statement is correct

Females are mosaic with respect to X- linked gene expression

12.A couple has a female child with Tay- Sachs disease, and these unaffected
children. Neither parents nor any of the affected child has had this disease.
The most likely genetic explanation is that Tay- Sachs disease is inherited
Autosomal recessive disorder

13.Which of the following statements is true

Neurofibromatosis is characterized with variable expressivity

14.Which of the following genetic diseases is characterized with infant’s

progressive course?
DMD

15.Which of the following diseases are NOT characterized by anticipation

Alzheimer’s disease

16.Which of the following is characteristic of autosomal recessive inheritance?

The recurrence risk for each sib of the proband is 1 in 4

17.Defect of which of the following substances causes PKU?

Tetrabiopterin
18.An 18-year old Asian woman is found to be mildly anemic with very small red
blood cell size on a routine examination. The total number of red blood cells
(RBC count) is normal despite of a reduced hemoglobin level. Which of the
following most commonly produces this situation?
Thalassemia
Beta thalassemia trait

19.Which of the following corresponds to Hb F

Alpha 2 gamma2

20.Which statement about X- linked inheritance is true

When recessive, an affected man will not see the condition in his
children but it may appear in his grandchildren

21.Which one of the following statements best describes genetic polymorphism?

It reflects alterations of DNA sequence

22.Which of the following is NOT one of the objective of the Human Genome
Project?
Clone human beings

23.Enhanced synthesis of Hyperphosphorylated forms of which of the following

substances can increase the risk of the Alzheimer’s disease?
Tau-protein

24.Which of the following combinations of Robertsonian translocation are most

common?
14q21q

25.Which form of PKU causes the most severe damage of the brains?
Classical

26.Which of the following is the characteristic of autosomal dominant

inheritance?
The phenotype usually appears in every generation, each affected person
having
27.Which method is used to measure dystrophin protein in Becker myscular
dystrophy?
Western blot

28.Which of the following statements best describes genomic imprinting?

Differences in gene expression between the allele inherited from the mother
and the allele inherited from the father are the result of it

29.Which of the following statements is correct

Imprinted genes can be hidden through uniparental disomy

30.Which of the following population is characterized with high frequency of

cystic fibrosis gene?
American/ European

31.Which of the following paternally inherited genetic information is eliminated

from the embryo?
mtDNA

32.Which of the following types of mutation causes Alzheimer disease in Down

syndrome?
Duplication

33.Which rare disease is caused by the defects in the HEXB gene impair the
activity of both hex A and hex B?
Sandhoff disease

34.Which statement about sickle- cell disease is true

Life- threatening thrombosis can occur
Hb S differs from normal Hb A by a single amino- acid substitution

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

severe, progressive, relatively common and incurable?
Duchene muscular dystrophy
36.A 10- year- old child with severe heterozygous familial hypercholesterolemia
has a total cholesterol of 416 mg/dl and an LDL cholesterol of 360 mg/dl. Three
treatments were implemented: dietary control, sitosterol, and bezafibrate.
Each treatment lasted 3 months, resulting in a 28% to 50% decrease in LDL
cholesterol. Which of the following is most likely deficient in this patient?
LDL receptor

37.Which of the following is NOT an early warning sign for Alzheimer disease?
Reduced motor skills

38.Which of the following is responsible for clinical variability of osteogenesis

imperfect type 1?
Mutant chain of type 1 collagen

39.Which of the following genetic diseases is characterized with infant’s

progressive neurological degeneration, blindness and severe clinical course?
Tay- Sachs

40.Which of the following processes will develop if the growth of cancer cells
becomes uncontrolled?
Invasion will occupy neighbor tissues

41.Which of the following genes are NOT associated with Familial

Hypercholesterolemia
HEXA and HEXB

42.During which autosomal- recessive disease intellectual disability is caused by

the accumulation of a certain amino acid in body fluids?
Phenilketouria

43.Which substance is highly elevated in blood serum in the preclinical stage of

Duchene muscular dystrophy?
Creatin kinase

44.Which defect is responsible for the accumulation of thick mucus in lungs

during cystic fibrosis?
Increased absorption of sodium
45.Which amino acid is most frequently substitded in disorders caused by
abnormality of collagen structure?
Glycine

46.Which of the following is characterized by the “genetic bottleneck”?

Oocyte

47.Which change in the polypeptide chain is characteristic to Hb S

Beta chain: Glu6Val

48.A 4- year- old female presents with short stature, web neck, and other
features suggestive of Turner syndrome, disability. Her choromosome studies
reveal 90,XX/92,XXXX with about 10% abnormal cells in blood and 20%
described as which of the following?
Aneuploidy

49.Which of the following about Hb Hammersmith is FALSE

It tends to cristallize in red blood cells

50.Which of the following is responsible for the clinical heterogeneity of

osteogenesis imperfect
Allelic and locus heterogeneity

51.Which of the following is responsible for the situation, when the child is
affected with type 1 osteogenesis imperfecta and both parents are healthy
De novo mutation

52.Which of the following is primarily use for the treatment of storage diseases?
Enzyme replacement therapy

53.Which of the following is characterized by the junction of two acrocentric

chromosomes near the centromere with the
Robertsonian translocation

54.The most common forms of beta thalassemia are due to

Single base- pair substitutions
55.Most cases of early- onset Alzheimer disease are caused by gene mutations.
Which statement is true concerning of Alzheimer disease?
APOE e4 increases the risk of the developing Alzheimer, but it does NOT
cause the disease

56.Which one of the following statements best describes most malignant

neoplasms?
They are of multifactorial etiology

57.You have sent a blood sample of a dismorphic baby to the laboratory for the
chromosomal analysis. The answer for 46,XY karyotype, del(18)(q12). What is
the reason the baby’s parents should also do a blood analysis?
To determine whether anomaly is acquired or inherited

58.You have sent……..del(18)(q12).

What type of anomaly is in the karyotype?
The long arm of chromosome 18 is shorter that it should be

59.Which of the following is a genomic mutation?

Aneuploidy

60.All of the following is notorious for muscular dystrophy EXCEPT

Constant expression in clinical severity and age of onset

61.Which of the following type of inheritance is characterized by the fact, that the
sons of the affected fathers are healthy and the… affected?
X- linked dominant

62.Expansion of which of the following trinucleotide sequences causes Fragile X

syndrome?
CGG

63.The first apoptotic gene associated with cancer was identified in which of the
following types of cancer?
Lymphoma
64.A human male carrying an allele for a trait on the X chromosome is
Hemizygous

65.Hemochromatosis
Is genetically heterogeneous

66.Which of the following chromosomal pathology is caused by the duplication of

part of the chromosome?
Partial trisomy

67.Which of the following statements about normal phenotype variation is true?

Environmental factors play a role

68.Measurement of concentration of which ions is important for the diagnosis of

cystic fibrosis?
Sodium and chloride

69.In which of the following diseases mass newborn screening is surely justified?
PKU

70.Persons with Hb SC disease are referred to as

Compound heterozygotes

71.In alpha thalassemia there is the

Failure to produce alpha globin chains

72.Which of the following populations is characterized with high frequency of

cystic fibrosis gene?
Caucasians

73.Which of the following are oncomires

Micro RNA

74.Which of the following organs are the main site of pathology in cystic fibrosis?
Lungs and pancreas
75.Ethnic differences in disease frequencies are most apparent for
Autosomal recessive conditions

76.What treatment strategy should be used in order to prevent neurological

complications in phenylketonuria?
Diet

77.Sickle cell anemia is caused by a change in the amino acid sequence of the two
beta chains in the hemoglobin ….. acids have been changed in each beta chain,
compared to normal hemoglobin?
1

78.Which statement about autosomal recessive inheritance is true?

If both parents are carriers, there is a risk that at conception any child might
be a carrier

79.The major abnormal form of hemoglobin that accumulates in a fetus with the
severe forms of alfa thalssemia(hydrops fetalis) is composed of
A tetramer of gamma subunits

80.In which of the following diseases the first- degree relative has a high risk of
developing a disease?
Tay- Sachs

81.Chromosomal aberrations include a change in the sequence of gene on a

chromosome. This is known as
Inversion

82.In which of the following diseases is cytogenetic analysis most frequently

recommended?
Malignant neoplasia

83.24 types of chromosomes have been identified in humans. Which of the

following methods is used for their identification?
Spectral karyotyping
84.During which autosomal recessive disease is mental retardation caused by the
accumulation of a certain amino acids
Phenilketouria

85.Match the following clinical description- second trimester abortus with cystic
hygroma and massive hydrops- with the……. Chromosome abnormality
Monosomy X

86.What is the name of a normal gene, which, when activated by a mutation, is

transformed to an oncogene
Protooncogene

87.Which of the following can be cancer associated genes by virtue of their ability
to directly regulate the expression of proto…. suppressors, but which
themselves are noncoding?
Micro RNAs (miRNAs)

88.Genes, responsible for Alzheimer disease are located on which of the following
chromosomes?
1, 14, 19, 21

89.Which of the following types of mutations causes aneuploidy and polyploidy

Genome

90.In sperm……………… developed oocyte. Which combination of karyotype and

phenotype is most liked to be observed?
XX individuals who are phenotypically male, but infertile

91.Which protein is encoded by the gene that causes myotonic dystrophy?

Protein kinase

92.DMD is most severe and most common form of X- linked recessive muscle
disorder. BMD is a milder form, characterized by
Later onset and slower progression