LIST OF CHECK-UP QUESTIONS for
Module 1 “Biological features of human vital activity. Principles of medical genetics”
:
- THE CELL' STRUCTURE AND FUNCTIONS
1. Fundanental characteristics of living things
2. Cellular level of life organization: prokaryotic and eukaryotic cells.
3. Levels of life organization: molecular, subcellalar (organelles), cellular, tissular, organismic, level of population and species, biocenotical, biospheric. Importance of levels of biological organization for medicine
4. The Cell Theory in its modern form. Importance for medicine
5. The main cell' organelles: cytoplasm, nucleus, cell membrane, envelope, EPR, ribosomes.
6. Light microscope structure: mechanical, optical, illuminative parts.
7. The main principles of working with light microscope.
8. Euchromatin and heterochromatin.
9. Chromosomes types: metacentric, submetacentric, acrocentric, telocentric chromosomes.
10. Haploid and diploid chromosome number (set up). Autosomes and sex chromosomes.
11. Normal human karyotype characteristics. Human chromosomes ideogram.
12. Deoxyribonucleic acid (DNA) and ribonucleic acid (RNA): ribosomal RNA (rRNA), messenger RNA (mRNA) and transport RNA (tRNA). Structure and role in protein synthesis. Introns and exons.
13. Amino acid genetic codes: code - DNA triplets, codon - mRNA triplets, anticodon - tRNA triplets.
14. Protein synthesis stages in eukaryotic cells: transcription, processing, translation.
15. Cell (mitotic) cycle, its stages: G1-, S-, G2- phases, mitosis.
16. Mitosis, its stages. Biological significance of mitosis.
17. Reproduction as universal property of living beings. Sexual and asexual reproduction, theirs forms.
18. Sex cells structure. Gametogenesis.
19. Cytological and cytogenetical characteristics of meiosis. Crossing-over. Biological significance of meiosis
20. Ontogenesis, its periodisation. Embryo development.
21. Embryo induction
22. Critical periods of embryo development, malformations.
23. Teratogenes. Radiation pollution influence on the ontogenesis.
24. Postnatal ontogenesis, its periods.
25. Neurohumoral regulation of growth and development.
26. Old age as ontogenesis stage. Correlation between social and biological conditions in human longevity.
27. Regeneration and transplantation.
28. Apparent and biological death.
- GENETICS
29. The main terms of genetics: heredity, gene, dominant and recessive genes, phenotype, alleles genes, non-alleles genes, homozygotes, heterozygotes.
30. Patterns of inheritance. Mendel's Laws of inheritance
31. Mendelian Traits in humans and Monogenous diseases.
32. The classification of crosses: monohybrid, dihybrid, polyhybrid and test cross.
33. Forms of interaction between allelic genes: complete dominance, incomplete dominance, superdominance, codominance, lethal alleles.
34. Forms of interaction between non-allelic genes: epistasis, polimery, complementarity.
35. Inheritance of Blood groups: ABO Blood Types, Rh Blood Types.
36. Linkage and crossing-over (complete linkage, incomplete linkage). Chromosomal mapping.
37. Sex determination in humans. Sex-linked traits.
38. Genes on the X-chromosome. Genes on the Y-chromosome.
39. Variation and its forms. Modification (phenotypic) variation (environmental influences, adaptive character of modification, phenocopies). Combinatorial variation as a basis of phenotypic and genotypic variety of persons in human populations.
40. Mutation and its types.
41. Genomic mutation (chromosome mutation): 1) polyploidy; 2) aneuploidy.
42. Chromosomal aberrations: 1) deletion; 2) duplication; 3) inversion; 4) translocation.
43. Gene mutations and its characteristic. Spontaneous and induced mutations, mutagenic factors.
44. Germinal and somatic mutations.
45. Genetic disorders caused by numeral abnormalities (aneuploidy) of autosomes: Down syndrome, Edwards syndrome, Patau syndrome.
46. Genetic disorders caused by numeral abnormalities (aneuploidy) of sex-chromosome: Turner syndrome, Klinefelter syndrome, the tryplo-X syndrome (metafemale), polysomy of the Y-chromosome (the XYY syndrome).
47. Genetic disorders caused by structural changes of chromosomes (the "cri-du-chat" syndrome.
48. Human as a specific object of genetic analysis. Methods of human genetics.
49. Laboratory diagnostics principles of chromosomal and genes diseases. Genetic load its biological significance and reasons.
50. Medical-genetic consulting and its tasks. Prenatal diagnostic of hereditary diseases.
TESTS FOR GROUNDING IN
MODULE 1
CYTOLOGY
Answers multiple tests, choose and indicate the correct answer/statement, please:
1. The non-membranous organelles are:
a) ribosomes; CORRECT
b) Golgi body;
c) lysosomes;
d) Endoplasmic reticulum;
e) nucleus
2. Chloroplasts and mitochondria bothNOT:
a) are found in plant cells;
b) have two membranes;
c) contain DNA;
d) are found in animal cells; CORRECT
e) contain a matrix.
3. The way of formation of somatic cellsin human body is:
a) amitosis
b) mitosis CORRECT
c) meiosis
d) gametogenesis
4. In what phase of the cell cycle theperiod when DNA replication and histonesynthesis occurs, resulting in duplication ofthe chromosomes? At the end of this phase,each chromosome consists of two identicalchromatids attached to one another at thecentromere. Choose the correct answer:
a) G1 phase
b) S phase CORRECT
c) G2 phase
d) mitosis
5. Some phase begins when the sisterchromatids separate and begin their migrationto opposite poles of the cell. What isthe name of this mitosis stage?
a) telophase
b) metaphase
c) anaphase CORRECT
d) prophase
6. In which stage of prophase I doescrossing-over occur?
a) leptotene
b) zygotene
c) pachytene CORRECT
d) diplotene
7. In which period of spermatogenesisdoes meiosis take place?
a) reproduction
b) growing
c) maturation CORRECT
d) formation
8. Human diploid number has 46 chromosomes.How many chromosomes migrateto each pole during meiosis I in anaphase?How many chromatids migrate toeach pole during meiosis II in anaphase?
a) 23 chromosomes, 23 chromatids CORRECT
b) 46 chromosomes, 46 chromatids
c) 23 chromosomes, 46 chromatids
d) 46 chromosomes, 23 chromatids
9. Work with microscope starts from a small magnification (according to therules). Magnification is x 56. Indicate,please, the correct answer:
a) ocular x 7, objective 8
b) ocular x 10, objective 40
c) ocular x 15, objective 40
d) objective x 8, ocular 10 CORRECT
e) objective x 40, ocular 10
10. In what organelle proteins are matured into their final forms?
a) mitochondria
b) lysosomes
c) Golgi apparatus CORRECT
d) ribosomes
11. What does an optical part of the lightmicroscope consist of?
a) refractor
b) diaphragm
c) condenser
d) turret
e) ocular CORRECT
12. The membranes that partition thecytoplasm of eukaryotic cells (endomembranesystem) include:
a) Golgi complex;
b) lysosomes;
c) endoplasmic reticulum; CORRECT
d) transport recycles;
e) plasma membrane.
13. The “cytoskeleton” of eukaryoticcells does NOT:
a) changes constantly;
b) includes microfilaments;
c) includes some DNA; CORRECT
d) extends into the nucleus;
e) includes protein.
15. Cell membrane functions include:
a) energy transduction;
b) selective permeability;
c) isolation of different chemical reaction;
d) concentration of reactants;
e) all of these above CORRECT
16. The chromosome is acrocentric if:
a) centromere divides it into two arms ofapproximately length
b) centromere establishes one long armand one short arm
c) it pinches off only a small amount ofmaterial. CORRECT
17. What chromosome number is presentin sex cells?
a) haploid (n) CORRECT
b) diploid (2n)
c) tetraploid (4n)
d) triploid (3n)
18. In what types of reproduction gametesare formed?
a) vegetative;
b) asexual;
c) sexual. CORRECT
d) budding
e) shizogonia
19. In which period of ovogenesis doesmitosis take place?
a) reproduction CORRECT
b) growing
c) maturation
d) formation
20. What organelles of special purpose(carry out the directed functions in cellswith narrow specialization) do you know?Choose the correct answer:
a) organelles of moving (flagellae, pseudopodia) CORRECT
b) organelles produce polysaccharides
c) organelles founding in plant cells
d) correct answer is absent
e) All of these
21. During what phase of meiosis thesecondary oocyte is formed and how manychromosomes and DNA are present:
a) meiosis I (n, 2c) CORRECT
b) meiosis II (n, c)
c) meiosis I (2n, c)
d) meiosis II (2n, 2c)
e) meiosis I (2n, 4c)
22. What organelles belong to the organellesfor special purpose?
a) lysosomes
b) rough endoplasmic reticulum (RER)
c) smooth endoplasmic reticulum (SER)
d) cilia CORRECT
e) mitochondria
23. The lysosome membrane is destroyed.What will happen with a cell?
a) phagocytosis
b) endocytosis
c) lysis CORRECT
d) mitosis
e) pinocytosis
24. How many homologous chromosomesand chromatids after replication arepresent in human karyotype?
a) 46 chromosomes and 92 chromatids CORRECT
b) 46 chromosomes and 46 chromatids
c) 92 chromosomes and 92 chromatids
d) 92 chromosomes and 46 chromatids
25. Choose definition corresponding withdifferent cell types:
a) Prokaryotic cells:…______
b) Eukaryotic cells:…______
1. Bacteria and blue-green algae,(Cyanobacteria)
2. Genetic material spread out in the cytoplasm
3. Nucleus and nuclear membrane lacking
4. Endoplasmic reticulum, Golgi body andmitochondria lacking.
5. Plant and animal cells.
6. Genetic material concentrated within thenucleus.
7. Nucleus and nuclear membrane present.
8. One or more nucleoli present.
9. All such organelles present.
10. Genetic material organized in a singleclosed loop-like chromosome.
11. Nuclear spindle formed
12. Nuclear spindle never formed duringcell division
26. In which period of gametogenesisdoes reduplication of DNA and chromosomes take place?
a) reproduction
b) growing
c) maturation
d) formation
27. Where do chromosomes located inmetaphase during mitosis or meiosis:
a) in a nucleus
b) on the poles of a cell
c) on the equator of a cell CORRECT
d) not visible
28. How many chromosomes and DNAmolecules does mature ovum, spermatozoahave?
a) 46 chromosomes and 46 DNA;
b) 23 chromosomes and 46 DNA;
c) 23 chromosomes and 23 DNA; CORRECT
d) 46 chromosomes and 23 DNA.
29. The types of asexual reproduction insingle-cellular organisms are:
a) binary fission
b) budding
c) sporogony
d) schizogony
e) all of these above CORRECT
30. What is NOT living level among definitions listed below? Choose correctanswer:
a) biogeocenotic (population-species)
b) molecular-genetic
c) cellular
d) biosphere (ecosystem)
e) tissue (organ)
f) organism (ontogenesis)
g) chromosomal CORRECT
31. What does an illuminative part oflight microscope consist of?
a) micrometer screw
b) macrometer
c) objective screw
d) refractor CORRECT
e) ocular
32. What is the main function of mitochondrion?
a) synthesis of proteis
b) secretory
c) ATP synthesis CORRECT
d) lipid synthesis
e) degradation of intracellular debris
33. Which type of chromosome is if centromeredivides it into two equal arms?
a) acrocentric
b) submetacentric
c) metacentric CORRECT
d) telocentric
34. What two-membranous organellesdo you know?
a) endoplasmic reticulum
b) mitochondrion CORRECT
c) Goldgi complex
d) lysosomes
e) peroxisomes
f) vacuoles
36. The chromosomes can be distinguishedby such main sighs, as:
a) size, centromere position CORRECT
b) centromere position, width
c) length of the arms, condensation level
d) chromatids number, size
37. What phase of mitosis chromosomesare visible, differentiated, condensed andreduplicated:
a) prophase
b) telophase
c) metaphase CORRECT
d) anaphase
38. The types of asexual reproduction inmulti-cellular organisms are:
a) vegetative (regeneration)
b) polyembrionya
c) sporogony
d) budding
e) all of these CORRECT
39. In which period of spermatogenesissperms are formed?
a) reproduction
b) growing
c) maturation
d) formation CORRECT
40. Which of the following cells containplastids?
a) animal
b) plant CORRECT
c) some eukaryotic
d) some prokaryotic
e) all cells
41. Lysosomes do NOT:
a) contain digestive enzymes
b) possess a membrane
c) contain nucleic acids CORRECT
d) break down complex molecules
e) break down organelles
42. The functions of nucleus are:
a) establishes one long arm and oneshort arm
b) storages the genetic information
c) moves to opposite poles of the cell
d) reduplicates of the genetic information
e) B+D
43. In which stage of meiosis does crossing-over occur?
a) telophase I
b) metaphase II
c) anaphase II
d) prophase I CORRECT
44. How many chromosomes groups arethere in the human karyotype?
a) 46
b) 23 CORRECT
c) 92
d) 7
e) 9
45. In what phase the sister chromatidsare separate and begin their migration toopposite poles of the cell?
a) telophase
b) metaphase
c) anaphase CORRECT
d) prophase
46. How many chromosomes are presentin each secondary oocyle?
a) 46
b) 23 CORRECT
c) 1600
d) 400
e) 22
47. The types of sexual reproduction insingle-cellular organisms are:
a) polyembrionya
b) sporogony
c) binary fission
d) budding
e) conjugation CORRECT
f) schizogony
48. Each sperm consists of:
a) a head region
b) body or midpiece
c) tail or flagellum.
d) end piece
e) all of these CORRECT
49. How many chromosomes are presentin each spermatogonium, an oogonium?
a) 46 CORRECT
b) 23
c) 1600
d) 400
e) 22
50. Some phase begins when the sisterchromatids separate and begin their migrationto opposite poles of the cell.Whatnamed this phase during meiosis?
a) telophase
b) metaphase
c) anaphase CORRECT
d) prophase
51. Which type of chromosome characterized that the is if a centromere dividesit into two non-equal arms (one of them ismore longer)?
a) acrocentric
b) submetacentric CORRECT
c) metacentric
d) telocentric
56. What one-membranous componentsdo you know:
a) endoplasmic reticulum
b) Goldgi complex
c) lysosomes
d) peroxisomes
e) vacuoles
f) all of these above CORRECT
61. The way of formation of sex cells inhuman body is:
a) amitosis
b) mitosis
c) meiosis CORRECT
d) gametogenesis
63. The parts of a mitochondrion that arerich in enzymes are:
a) the cristae. CORRECT
b) intermembrane space.
c) outer membrane.
d) inner membrane.
e) matrix.
64. Actin, myosin, and tubulin are
a) proteins.
b) components of filaments.
c) constructed on ribosomes
d) all of these CORRECT.
65. Organic matters which are carryingout in a cell and functions as enzymes are:
a) proteins, CORRECT
b) carbohydrates,
c) lipids,
d) of nucleic acids,
e) phospholipids.
66. Choose organelles of a cell, in whicha photosynthesis occur:
a) mitochondrion,
b) lysosome,
c) ribosome,
d) chloroplasts, CORRECT
e) cellular center.
67. What is a mean of division in a somaticcells:
a) amitosis,
b) mitosis, CORRECT
c) meiosis,
d) schizogony,
e) budding?
68. Choose a haploid number of chromosomesof the man:
a) 18,
b) 46,
c) 40,
d) 23, CORRECT
e) 36.
69. Moving of the daughter chromatidsto the poles of the cell is observed in themitotically dividing cell. On what stage ofthe mitotic cycle is this cell?
a) Interfase
b) Telophase
c) Anaphase CORRECT
d) Metaphase
e) Prophase
70. What cell structure contain DNA?
a) Nucleolus
b) Ribosomes
c) Nucleus CORRECT
d) Lysosomes
e) Golgi apparatus
71. A granular endoplasmic reticulumand Golgi apparatus are well developedin cells. What main function do these cellsperform?
a) Production of energy
b) Phagocytosis and digestion of entrappedparticles
c) Release of protein secretion CORRECT
d) Transmission of nervous stimulation
e) Production of protein
72. Nucleosomes are held together inlarge coiled loops by
a) histones. CORRECT
b) chromatin,
c) scaffolding proteins,
d) topoisomerases.
e) protosomes.
73. Lysosomes are vesicles containingdigestive enzymes. The isolation of theseenzymes in lisosomes protects the rest ofthe cell from inappropriate digestive activity.
a) Phagocytosis
b) Endocytosis
c) Lysis CORRECT
d) Mitosis
e) Pinocytosis
Genetics
1. During the examination of the man’s epitheliumof the cheek mucosa it was establishedthat in most cells the nuclei had Barr bodies.What syndrome is it typical of?
a) Turner’s syndrome.
b) Klinefelter’s syndrome CORRECT.
c) Down’s syndrome.
d) Edward’s syndrome.
2. The dominant relationships of the allelesare follows: A—brown eyes; a—blue eyes.The genes for these traits assort independentlyand present in autosomes. Indicate genotype ofbrown-eyed woman.
a) Aa or aa
b) AA or Aa CORRECT
c) aa
d) AA or aa
3. Parents have I and III groups of blood.Which groups of blood may their children get?
a) I or II
b) I or III CORRECT
c) II or III
d) I or IV
4. What will be the phenotypic ration in the first filial generation during test cross, if an analyzingperson is heterozygous by one pair ofgenes:
a) 3:1;
b) 9:3:3:1;
c) 1:1 CORRECT
d) segregation is absent.
5. How many alleles that control blood groupevery human has?
a) one
b) two CORRECT
c) three
d) four
6. What from human diseases listed is exampleof the modifi cation variability:
a) albinism;
b) haemophilia
c) infl uenza CORRECT
d) color blindness
7. What type of mutations has the greatestprobability to be expressed in the next generation?
a) recessive, linked with a sex, whicharises in X-chromosome;
b) recessive, which arises in autosomes;
c) dominant autosomal mutation CORRECT
d) all of these avove
8. A human has galactosemia — a disease ofaccumulation. Which genetic method can weuse to diagnose the case?
a) Cytogenetic.
b) Biochemical. CORRECT
c) Population-statistical.
d) Pedigree analysis.
9. The intensity of human skin pigmentationis controlled by a few pairs of non-allelic dominantgenes. It was found that if the quantity ofthe genes increased, the pigmentation becamemore intensive. What do we call this type ofgenes’ interaction?
a) Pleiotropy.
b) Polymery. CORRECT
c) Codominance.
d) Complementary.
10. There is ichtyosis in the family pedigree.This feature appears in each generation and istypical only for males. What type of inheritancedoes this feature have?
a) Recessive, X-linked.
b) Autosomal-dominant.
c) Autosomal-recessive.
d) Y-linked. CORRECT
11. In a family of students from Africa a childwith signs of anemia was born. The child diedwithin a short time. It was found that the child’serythrocytes were shaped like a sickle. Whatgenotypes may the parents have if they have alight form of anemia?
a) and AA.
b) and AA.
c) aa and aa.
d) and Aa. CORRECT
12. A child is ill with phenylketonuria. Thechild’s parents are healthy. What genotype maythe parents have?
a) aa and AA.
b) Aa and AA.
c) aa and aa.
d) Aa and Aa. CORRECT
13. The study of the female karyogram showsthat the centromere in X-chromosome is placednear the centre. What do we call such chromosome?
a) Telocentric.
b) Subacrocentric.
c) Submetacentric. CORRECT
d) Acrocentric.
14. During the pedigree analysis of a familywith such an inherited pathology as transgressionof enamel formation, it was found that thedisease appeared in each generation. It is inheritedby daughters from fathers. What type of inheritancecan we observe in this case?
a) Dominant, X-linked. CORRECT
b) Autosomal-dominant.
c) Autosomal-recessive.
d) Recessive, X-linked.
15. “Cat’s cry” syndrome is characterized bythe underdevelopment of laryngeal muscles,“miaowing” voice timbre, psychomotoric immaturationof a child. This disease is the resultof:
a) Duplication of a fragment of the 5thchromosome.
b) Translocation of the 21st chromosome on the 15th.
c) Deletion of the short arm of the 5thchromosome. CORRECT
d) Deletion of the short arm of the 21stchromosome.
16. Endemic goiter is widespread amongTranscarpathian population due to iodine deficiency in food. What form of variability is thiscase based on?
a) Mutation.
b) Modification. CORRECT
c) Combinative.
d) Genotypical.
17. The pathoanatomic inspection of a newbornboy’s dead body showed the followingabnormalities: polydactily, microcephaly, a cleftlip and cleft palate, hypertrophy of the parenchymalorgans. These symptoms are typical ofPatau’s syndrome. What is the cause of this disease?
a) Trisomy on the 21st chromosome.
b) Trisomy on the 18th chromosome.
c) Trisomy on the 13th chromosomeCORRECT.
d) Monosomy on X-chromosome
18. Due to the results of the pedigree analysisa geneticist found out that feature became apparent
in each generation, a male and a femaleinherited feature with the same frequency, bothparents transmitting this feature heir children.What type of inheritance does this feature have?
a) Recessive, X-linked.
b) Autosomal-recessive.
c) Dominant, X-linked.
d) Autosomal-dominant. CORRECT
19. A baby boy has deformations of cerebraland facial cranial parts, microphthalmia, an eardeformation and cleft plate. The baby’s karyotypeis 47, XY,13+. What disease is it?
a) Edward’s syndrome.
b) Patau’s syndrome. CORRECT
c) Down’s syndrome.
d) Turner’s syndrome.
20. A 10-year-old girl has got shortened extremities,a small skull, a face anomaly, the mongolian type of eyelid fold, epicanthus, mentalretardation, disorders of the heart and vascularstructure. In a genetic clinic the girl’s karyotypewas determined. What was the girl’s karyotype?
a) 45, XO.
b) 47, XX,13+.
c) 47, XX,21+. CORRECT
d) 47, XXX.
21. Excessive ear pilosis (hypertrichosis) isdetermined by the gene, which is localized in Y-chromosome.A man has got this feature. Whatis the probability of his having a son with suchfeature?
a) 75 %.
b) O%.
c) 25 %.
d) 100 % CORRECT
22. According to the rule of the permanentchromosomes number, each animal species canbe characterized by a specifi c and permanentnumber of chromosomes. What mechanism providesthis feature during sexual reproduction?
a) Reparation.
b) Meiosis. CORRECT
c) Mitosis.
d) Cytokinesis.
23. How many sperms do 400 spermatogoniesgive?
a) 400
b) 100
c) 1600 CORRECT
d) 800
24. Inclination to diabetes mellitus is provokedby the autosomal-recessive gene. Thisgene becomes apparent only in 30% of homozygousindividuals. What genetic regularity isobserved in this case?
a) Complementarity.
b) Gene expressiveness.
c) Incomplete penetrance. CORRECT