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[MT 6315] Cytogen > Unit 1: Intro to Cytogenetics > Flashcards

Unit 1: Intro to Cytogenetics Flashcards

1
Q

Branch of genetics that studies the structure of DNA within the cell nucleus

A

Cytogenetics

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2
Q

Studies the number and morphology of chromosomes.

A

Cytogenetics

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3
Q

Chromosome Banding Techniques

A

Classical Cytogenetics

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4
Q

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

1665, Robert Hooke (1635 - 1703)

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5
Q

Hybridization Fluorescently Labeled Probes

A

Molecular Cytogenetics

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6
Q

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

A

1672, Nehemiah Grew (1628 - 1711)

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7
Q

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

1761 - 1766, Joseph Gottlieb Kolreuter (1733- 1806)

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8
Q

Improved the microscope by the technique of grinding the lens. He 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.

A

1674, Anthony van Leeuwenhoek (1632 - 1723)

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9
Q

Showed the presence of sex in plants. He demonstrated that in maize, 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

1694, Rudolf Jacob Camerarius (1665 - 1721)

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10
Q

Proposed a theory of evolution known as theory of inheritance

A

1809, Jean Baptiste Lamarck (1744-1829)

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11
Q

Theory of Inheritance of acquired characters:

A
  1. Variation in an individual is brought about by:
    (a) conscious effort
    (b) reaction to environment
    (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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12
Q

Studied plant cells and discovered nucleus in Tradescantia. He described it as a central feature of living cells.

A

1828, Robert Brown (1773 - 1858)

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13
Q

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

A

1835, Hugo von Mohl (1805-1872)

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14
Q

Put forth the cell theory

A

1838 - 1839, Matthias Jacob Schleiden (1804-1881) and Theodor Schwann (1810-1882)

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15
Q

Cell Theory Results

A
  1. Cell is the smallest structural element
  2. In a multicellular organism, every cell has a specific function to perform
  3. A cell can only be produced from another cell by cell division
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16
Q

1st discovered chromosomes in pollen

A

1842, Karl Nageli

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17
Q

Introduced aniline staining to observe chromosomes during cell division

A

1870, Walther Flemming

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18
Q

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

1923, Theophilus Painter

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19
Q

Greek word of Chromosomes

A

“Chroma” - Colored
“Soma” - Body

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20
Q

Coined the term “chromosome” after staining techniques had been developed

A

1888, Waldeyer

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21
Q

To describe the deeply staining properties of these structures during cytological analysis

A

Colored Body

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22
Q

What was discovered in 1950

A

Cytogenetic technique improvements (use of colchicines to arrest cells in metaphase)

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23
Q

Showed that human cells have 23 pairs of chromosomes

A

1956, Tijo & Levan

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24
Q

What was discovered in 1960?

A

Peripheral leukocyte culture method of Moorehead et al. was adopted by many cytogeneticists

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25
Q

1 nuclear genome = _____ genes

A

25,000

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26
Q

1 mitochondria genome = __ genes

A

37

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27
Q

Peripheral Leukocyte Culture Method Procedures

A
  1. Extract 5 mL venous blood
  2. Add phytohemagglutinin & culture medium
  3. Culture at 37C for 3 days
  4. Add colchicine & hypotonic saline
  5. Cells fixed by alcohol
  6. Spread cells onto slide by dropping
  7. Digest with trypsin and stain with Giemsa
  8. Analyze “metaphase spread”
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28
Q

Why is Hypotonic Saline used in Peripheral Leukocyte Culture Method?

A

To make the cell swell (more visible)

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29
Q

Technique developed by Joseph Gall and Mary Lou Pardue in 1960s

A

In situ hybridization

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30
Q

Basic unit of inheritance

A

Gene

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31
Q

Determines the gene

A

DNA

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32
Q

Helps detect whether the gene is present and where it is located

A

Fluoresence In Situ Hybridization (FISH)

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33
Q

Father of Genetics

A

Gregor Mendel

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34
Q

In 1865, Mendel discovered ______

A

Paired Factors

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35
Q
  • Aare inherited
  • Segregate during gamete formation
  • Independently sort
A

Paired Factors

36
Q

In 1902, Sutton & Boveri discovered the _________

A

Chromosome Theory of Inheritance

37
Q

Chromosomes occur in pairs & are inherited from parents (the paternal & maternal chromosome)

A

Chromosomal Theory of Inheritance

38
Q

Chromosomes segregate in gamete formation (haploid)

A

Chromosomal Theory of Inheritance (Not a paired factor but rather dependent on the chromosome)

39
Q

Chromosome pairs segregate independently

A

Chromosomal Theory of Inheritance

40
Q

First genetic linkage map

A

Polytene Chromosomes Isolation from Fruit Fly and First Plant Cytogenetics

41
Q

Genetic Linkage Map of Polytene Chromosomes Isolation from Fruit Fly and First Plant Cytogenetics

A
  1. Polytene chromosomes were first discovered in insects (Balbiani 1881)
  2. Morgan, Sturtevant, Bridges and Muller made the 1st genetic linkage maps from fruit fly
  3. 1920, Cyril Darlington pioneered plant cytogenetics
42
Q

Scientists behind Polytene Chromosomes Isolation from Fruit Fly and First Plant Cytogenetics

A
  1. Thomas Hunt Morgan
  2. Calvin Bridges
  3. Alfred Sturtevant
  4. Herman Muller
43
Q

Findings of Polytene Chromosomes Isolation from Fruit Fly and First Plant Cytogenetics

A

It proved that it is directly linked to your chromosome, which is the gene

44
Q

In 1944, (DNA/Protein) and not (DNA/Protein) in chromosome is the heredity material (Genetic Transformation Expt.)

A

DNA ; Protein

45
Q

He discovered the amount of nitrogen base in chromosome

A

Chargaff (Chargaff’s Rule) (1950)

46
Q

Term used for chromosomes crossing arms then it interchanged

A

Biodiversity / Recombinant

47
Q

Discovered the double helix in 1953

A

Watson & Crick

48
Q

Discovered the genetic code in protein synthesis in 1961

A

Crick, Brenner et al.

49
Q

Described the conversion of a non-pathogenic pneumococcal bacteria to a virulent strain.

A

Frederick Griffith

50
Q

Why did the mouse die when injected with rough strain & heat-killed smooth strain?

A

Bacterial Transformation: The smooth strain gave its genetic material to rough strain because the heat didn’t kill the DNA

51
Q

How did Chargaff discovered the amount of nitrogen base in a chromosome?

A

The DNA bases were almost equal in numbers.

A (29.3) = T (30)
C (20) = G (20.7)

52
Q

The key understanding for the double helix model

A

Rosalind Franklin’s Xray Diffraction DNA

53
Q

Studies the RNA

A

Gene Expression

54
Q

Central Dogma

A

DNA → RNA → Protein

55
Q

DNA microarrays are used instead of traditional metaphase chromosome preparation

A

Array CGH

56
Q

First reported the CGH analysis, who utilized CGH in the analysis of solid tumors

A

Kallioniemi and colleagues

57
Q

Array CGH was pioneered by ______ in 1997 using tumor cells and _______ in 1998 by the use of breast cancer cells

A

Solinas-Tolodo et al. & Pinkel et al.

58
Q

Term used when there is a missing chromosome

A

Copy Loss

59
Q

A technique that permits the detection of chromosomal copy number changes without the need for cell culturing. It provides a global overview of chromosomal gains and losses throughout the whole genome of a tumor.

A

Comparative Genomic Hybridization

60
Q

Term used when there is an increased in chromosome

A

Copy Gain

61
Q

Extra chromosome in the 21st pair

A

Trisomy 21 / Down Syndrome

62
Q

Absence of Y chromosome

A

45, X / Turner Syndrome

63
Q

Extra X chromosomes

A

47, XXY / Klinefelter Syndrome

64
Q

With a combination of these conventional and molecular techniques, _______ has become an indispensable tool for the diagnosis of various genetic disorders, paving the way for possible treatment and management

A

Cytogenetics

65
Q

Additional copy of chromosome 13 in some or all of the body’s cells

A

Trisomy 13 / Patau Syndrome

66
Q

Caused by an extra copy of
chromosome 18

A

Trisomy 18 / Edward’s Syndrome

67
Q

Causes chronic myeloid leukemia

A

Philadelphia Chromosome

68
Q

T/F: cells cultured from amniotic fluid could be used to determine the chromosome content of the fetus

A

true

69
Q

Prenatal diagnosis of common aneuploidies, non-invasive detection of chroma disorders using maternal blood, and studies of mosaicism are included under which importance of cytogenetics?

A

Pre-natal studies

70
Q

importance of cytogenetics

A
  1. Pre-natal studies
  2. human cancer studies
  3. detection of subtelomeric aberrations
  4. microdeletion syndrome detection
71
Q

which aneuploidies chromosomes cause 95% of chromosomal aberrations causing live-born birth defects ?

A

chromosome 13, 18, 21, X and Y

72
Q

Modern detection technique of aneuplodies chromosomes is through ?

A

interphase FISH prenatal diagnosis w/ uncultured amniocutes

73
Q

_______ is a useful and non-invasive method for prenatal diagnosis of chromosomal disorders

A

Maternal blood cytogenetic analysis of fetal cells by FISH

74
Q

Cell source for non invasive prenatal genetic diagnosis

A

Fetal nucleated RBC

75
Q

Detection of Specific Translocations and Gene Rearrangements, Analysis of Gains and Losses of Chromosomes or Chromosomal Regions in Tumors, and Testing Deletion of Tumor Suppressor Genes and Amplification of Oncogenes are under what importance of cytogenetics?

A

Human cancer studies

76
Q

Why is the identification of specific chromosomal translocations and gene rearrangements important

A
  1. determining a therapy plan
  2. monitoring treatment
  3. predicting prognosis
77
Q

___________ can detect chromosomal translocations in hematologic neoplasms, malignant lymphomas, and solid tumors

A

Molecular Cytogenetics

78
Q

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

A

interphase FISH

79
Q

What is used to detect specific genes in many cases of acute leukemia?

A

molecular cytogenetics

80
Q

T/F: Almost all types of clinical specimens can be used for CGH studies of tumors

A

True

81
Q

Through the ________ approach, chromosomal aneuploidies can be detected without cell culturing in any given tissue or cell source

A

Molecular Cytogenetics interphase FISH

82
Q

T/F: Molecular cytogenetics FISH requires cell culturing to detect chromosomal aneuploidies

A

False, chromosomal aneuploidies can be detected without cell culturing in any given tissue or cell source

83
Q

Gains or losses of individual chromosomes or chromosome regions is helpful for what?

A
  1. correlation to tumors and its different stages
  2. used for prognosis
84
Q

T/F: Deletion of tumor supressor genes and amplification of oncogenes can be detected by FISH or CGH studies

A

True

85
Q

analysis of genomic alterations using mainly in situ hybridization based technology

A

Molecular cytogenetics

86
Q

Molecular cytogenetics employ ________ to analyze genomic alterations

A

in situ hybridization

[MT 6315] Cytogen (9 decks)

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