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MT6315 (CYTO) > 1.1 - Introduction To Cytogentics > Flashcards

1.1 - Introduction To Cytogentics Flashcards

1
Q

It is the branch of genetics that studies the structure of DNA within the cell nucleus

A

Cytogenetics

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2
Q

Cytogenetics studies the number and morphology of ________.

A

Chromosomes

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3
Q

What are the two types Cytogenetics?

A
  • Classical Cytogenetics
  • Molecular Cytogenetics
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4
Q

Fluorescently labeled probes are under what type of Cytogenetics?

A

Molecular Cytogenetics

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5
Q

What is the summarization of the development of Cytogenetics?

A

A. Cell Discovery
B. Chromosome structure & components discovery
C. Human Cytogenetics emergence

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6
Q

Who observed the section of cork by a primitive type of microscope and found that it was made up of small hollow units like honey comb — he termed the structural unit as cell

A

Robert Hooke

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7
Q

Who published microscopic anatomy of plants and advanced a theory that the stamen corresponds to male, while pistil corresponds to female reproductive organ?

A

Nehemiah Grew

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8
Q
  • Who improved the microscope by the technique of grinding the lens?
  • He also reported the studies on free cells such as protozoa and bacteria and thus opened the door to a new world of microorganisms. He also studied blood cells
  • Labeled microorganisms as animalcule
A

Anthony van Leeuwenhoek

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9
Q
  • He showed the presence of sex in plants.
  • Seeds are not produced unless pollen is applied to the pistil.
  • He concluded that pollen is the male element, while pistil is the female element.
A

Rudolf Jacob Camerarius

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10
Q
  • He published the information on his work of plant hybridization
  • He made hybrids between different varieties of tobacco and between some plant genera.
  • By using reciprocal crosses, he showed the equal contribution of male and female parents to their offspring
A

Joseph Gottlieb Kolreuter

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11
Q

He proposed a theory of evolution known as Theory of Inheritance of Acquired Characters

A

Jean Baptiste Lamarck

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12
Q

According to the Theory of Inheritance of Acquired Characters, what are the factors that brings about the variations in an individual?

A

a. Conscious effort
b. Reaction to environment
c. Use and disuse of organ

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13
Q

According to the Theory of Inheritance of Acquired Characters, what are the two variables that affect one’s inheritance/heredity?

A
  1. Variation in an individual is brought about by:
    (a) conscious effort,
    (b) reaction to environment, and
    (c) use and disuse of the organ.
  2. Heredity carries forward the changes that are acquired during the life time of the individual.
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14
Q
  • He studied plant cells and discovered nucleus in Tradescantia.
  • He described it as a central feature of living cells
A

Robert Brown

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15
Q

He described cell division and showed that cells arise through partition walls formed between preexisting cells.

A

Hugo von Mohl

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16
Q

They put forth the cell theory on the basis of accumulated experimental results:
- The cell is the smallest structural element of a multicellular organism and as a unit, it is itself an elementary organism.
- In a multicellular organism, every cell has a specific function to perform, and represents a working unit.
- A cell can only be produced from another cell by cell division.

A

Matthias Jacob Schleiden & Theodor Schwann

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17
Q

He is the 1st to discover chromosomes in pollen

A

Karl Nägeli

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18
Q

He introduced aniline staining to observe chromosomes during cell deivision

A

Walther Flemming

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19
Q

He coined the term “chromosome” after staining techniques had been developed

A

Henrich Waldeyer

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20
Q

He derived an estimate of 48 chromosomes using images of nuclei reconstructed from thin sections of human testicular tissue embedded in paraffin and stained with iron hematoxylin

A

Theophilus Painter

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21
Q

Theophilus Painter initially thought that humans contain 24 pairs of chromosomes (48 chromosomes); However it was discovered that _____ contains 48 chromosomes and not humans

A

Chimpanzees, gorillas

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22
Q

Who corrected the notion that humans contain 24 pairs of chromosomes to 23 pairs chromosomes (46 chromosomes)?

A

Joe Hin Tijo & Levan (thru somatic cells)

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23
Q

In what year did Cytogenetic technique improvements (use of colchicines to arrest cells in metaphase) occur?

A

1950

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24
Q

In 1960, the __________ method of Moorehead et al. was adopted by many cytogenetics

A

Peripheral Leukocyte Culture

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25
Q

What type of anti-gout drug was used to arrest cells in the metaphase stage?

A

Colchicine

26
Q

Enumerate the steps in Peripheral Leukocyte Culture Method

A
  1. Collect blood (e.g. 5 mL venous blood)
  2. Add phytohemagglutinin and culture medium
  3. Culture at 37°C for 3 days
  4. Add colchicine and hypotonic saline
  5. Cells fixed
  6. Spread cells onto slide by dropping
  7. Digest w trypsin & stain with Giemsa
  8. Analyze metaphase spread
  9. Karyotype
27
Q

In the process of Peripheral Leukocyte Culture Method, what is the purpose of adding phytohemagglutinin?

A

It removes RBCs leaving only the WBCs

28
Q

In the process of Peripheral Leukocyte Culture Method, what is the purpose of colchicine?

A
  • It arrest cells during division
  • It will stop the cell division in the metaphase
29
Q

In the process of Peripheral Leukocyte Culture Method, what is the purpose of the hypotonic saline?

A

It causes swelling/paglobo of the cells so that it is easier to count

30
Q

In 1960s, In situ hybridization techniques was initially developed by who?

A

Joseph Gall and Mary Lou Purdue

31
Q

”Paired factors” was discovered by?

A

Mendel in 1865

32
Q

What are the 3 laws under Mendel’s Laws?

A
  1. Paired factors are inherited
  2. Paired factors segregate during gamete formation
  3. Paired favors independently sort
33
Q

Who discovered the Chromosome theory of Inheritance?

A

Sutton & Boveri

34
Q

According to the Chromosomal Theory of Inheritance, chromosomes occur in _________ & are inherited from parents (the paternal & maternal chromosome)

A

occur in pairs

35
Q

According to the Chromosomal Theory of Inheritance, chromosomes segregate in __________ (haploid)

A

Gamete formation

36
Q

According to the Chromosomal Theory of Inheritance, chromosome pairs segregate ___________

A

Independently

37
Q

Polytene chromosomes were first discovered in ___________ (Balbiani 1881)

A

Insects (fruit fly)

38
Q

Who made the first genetic linkage maps from fruit fly?

A

Morgan, Sturtevant, Bridges and Muller

39
Q

In 1920, who pioneered plant cytogenetics?

A

Cyril Darlington

40
Q

In the genetic transformation experiment, it was proven that ________ is the heredity material and not protein in chromosome

A

DNA

41
Q

Who discovered the amount of nitrogen base in chromosome?

A

Chargaff (Chargaff’s rule)

42
Q

Who discovered the double helix?

A

Watson and Crick

43
Q

In 1961, the discovery of the genetic code in protein synthesis was discovered by who?

A

Crick, Benner et al.

44
Q

The first report of CGH analysis (using solid tumors) was made by who?

A

Kallioniemi and colleagues in 1992

45
Q

The implementation of array CGH, whereby DNA microarrays are used instead of the traditional metaphase chromosome preparation, was m pioneered by who?

A
  • Solinas-Tolodo et al. in 1997 (in tumor cells)
  • Pinkel et al. in 1998 (using breast cancer cells)
46
Q

This enabled detection of numerical chromosome aberrations

A

Emergence of Human Cytogenetics

47
Q

Identify the syndrome

  • 45, X
  • affects only females
  • results when one of the X chromosomes (sex chromosomes) is missing or partially missing
  • short height, failure of the ovaries to develop and heart defects
A

Turner Syndrome

48
Q

Identify the syndrome

  • 47, XXY
  • boys and men are born with an extra X chromosome
A

Klinefelter syndrome

49
Q

Identify the syndrome

  • extra 13th chromosome
A

Trisomy 13 (Patau syndrome)

50
Q

Identify the syndrome

  • extra copy in the 21st chromosome
  • characterized by flattened face, almond-shaped eyes, short neck, small ears, etc
A

Trisomy 21 (Down syndrome)

51
Q

Identify the syndrome

  • extra copy in the 18th chromosome
  • have heart defects, abnormalities of other organs, small, abnormally shaped head, small jaw and mouth, and clenched fists with overlapping fingers
A

Trisomy 18 (Edward’s syndrome)

52
Q

This chromosome forms when chromosome 9 and chromosome 22 break and exchange parts (translocation) and is found in patients with chronic myeloid leukemia

A

Philadelphia chromosome

53
Q

It was also reported that cells cultured from ________ could be used to determine the chromosome content of the fetus

A

Amniotic fluid

54
Q

In what type of cytogenetic does karyotyping belong to?

A

Classical Cytogenetics

55
Q

True or False

Shortening of the telomere may result in death

A

True

56
Q

True or False

Cytogenetics is important in *pre-natal diagnosis** of the common Aneuploidies

A

True

57
Q

95% of the chromosomal aberrations causing live-born birth defects are Aneuploidies chromosomes:

A

13, 18, 21, X, and Y

58
Q

Modern detection technique is through interphase FISH prenatal diagnosis with

A

uncultured amniocytes

59
Q

True or False

For patients with chronic myeloid leukemia, it has been shown that interphase FISH is highly sensitive in detecting the BCR/ABL fusion

A

True

60
Q

True or False

Through the Molecular Cytogenetics, interphase FISH approach,chromosomal aneuploidies can be detected without cell culturing in any given tissue or cell source, such as touch preparations, sections of frozen tumor,and paraffin-embedded tissue.

A

True

61
Q

It is the analysis of genomic alterations using mainly in situ hybridization based technology

A

Molecular Cytogenetics

MT6315 (CYTO) (5 decks)

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