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Mc 4 > 1-50 > Flashcards

1-50 Flashcards

1
Q
  1. How do you achieve the high mitotic activity of lymphoid cells in the cytogenetic research?
A

By acting with phytohaemagglutinin

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2
Q
  1. What material is the source of genomic DNA in obtaining DNA or RNA samples?
A

Culture of fibroblast,
Peripheral blood
Chorion,
Aminotic cells. This All and. Are correct

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3
Q
  1. Determine who and when has firstly organized the medico-genetic counseling in the world:
A

S.N Davindenkon in 1920

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4
Q
  1. Amniocentesis is …
A

Puncture of fetal bladder to take amniotic fluid with the cells of the amnion and fetus in it

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5
Q
  1. How do you achieve (during the cytogenetic method) the destruction of spindle division and stop cell division at the stage of metaphase?
A

By acting with a solution of colchicine

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6
Q
  1. What is the essence of the cytogenetic method in studying human heredity?
A

Study chromosomes with microscope

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7
Q
  1. What are the indications for the biochemical research?
A

The lag is physical development hepatosplenomegaly, intolerance to any food

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8
Q
  1. List the stages of medical-genetic consulting:
A

Diagnosis, prediction, conclusion ,recommendation

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9
Q
  1. Cordocentesis is …
A

Blood sampling from the umbilical vessels of a fetus for cytogenetic,molecular-genetic and biochemical analysis of blood

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10
Q
  1. What method of studying heredity used in the diagnosis of chromosomal diseases?
A

Cytological

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11
Q
  1. What material used for the cytological method which investigates heredity?
A

A scraping in oral mucosal,
Blood cells,
Skin epithelium,
Amniotic fluid, this all ans. Are correct

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12
Q
  1. What does the term “siblings” mean?
A

Children of one parent’s couple

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13
Q
  1. Why do you use the twin methods for studying human heredity?
A

To assess the relative rule of heredity and environment in the development of trait

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14
Q
  1. What proportion of children in the first generations will exhibit a dominant trait, if one parent is heterozygous with dominant allele and the other is homozygous with recessive?
A

50%

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15
Q
  1. What does the term “proband” mean?
A

The person whom conducts the study of pedigree

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16
Q
  1. Identify the characters accepted for designation in the pedigrees of female family members:
A

Circle

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17
Q
  1. What percentage of children will inherit the pathology, if both parents are heterozygous with dominant allele controlling hereditary disease?
A

75%

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18
Q
  1. What is the essence of the biochemical method?
A

The use of a system of qualitative and quantitative tests, which allows to catch the disturbed content of metabolic products

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19
Q
  1. What is the disadvantage of human as an object of genetic research?
A

All answer are correct

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20
Q
  1. Identify the hereditary disorder caused by violotation of amino acid metabolism
A

Phenylketonuria

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21
Q
  1. Phenylketonuria was first described by
A

A.fehling

22
Q
  1. Select type of inheritance in albinism
A

Autosomal recessive

23
Q
  1. Identify the hereditary disorder caused by violotation of carbohydrates metabolism
A

Galactosemia

24
Q
  1. What is characteristic of Tay-Sachs disease:
A

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

25
Q
  1. Identify the hereditary disorder of connective tissue:
A

Marfan syndrome

26
Q
  1. What are the typical features for patients with Marfan syndrome?
A

Tall , long arachnid fingers, chest deformation,flat feet, subluxation of the lens , arortic aneurysm

27
Q
  1. Select type of inheritance in Marfan syndrome?
A

Autosomal dominant

28
Q
  1. Identify the hereditary disorder caused by violotation of lipid metabolism
A

Tay-sachs disease

29
Q
  1. Sickle cell anemia was first discovered by
A

G.Herrick

30
Q
  1. Select type of inheritance in mucopolysaccharidosis?
A

Autosomal recessive

31
Q
  1. Which of the following hereditary diseases refers to hemoglobinopathies?
A

Thalassemia

32
Q

32.​What is characteristic of mucopolysaccharidosis disease:

A

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

33
Q

33.​Which of the following hereditary diseases refers to multifactorial?

A

Psoriasis

34
Q

34.​What disease related to multifactorial diseases?

A

.Schizophrenia.

35
Q

35.​What are the typical features for patients with phenylketonuria?

A

Convulsive syndrome,tendency to develop dermatitis,urine and sweat of patients have a characteristic odor(mousy odor),oligophrenia.

36
Q

36.​Select type of inheritance in galactosemia?

A

Autosomal recessive.

37
Q

37.​Select the method of genetic predisposition to some infectious diseases such as tuberculosis:

A

Twin method

38
Q

38.​Identify chromosomal disease associated with increasing number of sex chromosomes:

A

Klinfelters syndrome.

39
Q

39.​Isochromosome is …..

A

CHROMOSOME WITH REPETITIVE GENETIC MATERIAL IN BOTH SHOULDERS

40
Q

40.​What syndrome is characterized by following symptoms: microcephaly, sloping forehead, narrow eye slits, nose defect, low-set ears and deformed, cleft lip and cleft palate, polydactyly (extra digits), heart defects, kidney defects?

A

Patau syndrome

41
Q

41.​The Cri du chat syndrome was firstly described by….?

A

J.Lejeune,in 1963

42
Q

42.​Identify the possible formula of karyotype according to the following symptoms: short, a short neck, barrel-shaped rib cage, delayed sexual development.

A

45,X0

43
Q

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

A

Wof-hirschkorn syndrome

44
Q

44.​What intervals of age significantly increase in childbirth the risk of chromosomal abnormalities?

A

Age 35- 40

45
Q

45.​Determine the karyotype of Klinefelter syndrome:

A

47,XXY

46
Q

46.​Determine the karyotype of Edwards syndrome:

A

47,XX,18+

47
Q

47.​Determine chromosomal disease which is associated with decreasing in the number of sex chromosomes:

A

Turners syndrome

48
Q

48.​The occurrence of ring chromosomes is…

A

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

49
Q

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

A

Down’s syndrome

50
Q

50.​18 trisomy was firstly described by:

A

Edwards, in 1960

Mc 4 (2 decks)

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