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1S CTG > Intro > Flashcards

Intro 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

Identify whether Mendelian or Non-Mendelian:

single gene diseases

A

Mendelian

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4
Q

Classical or Molecular:

Used for observing the macrostructure of chromosomes

A

Classical

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5
Q

a procedure done to visualize chromosomes

A

Karyotyping

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6
Q

Chromosomes are arrested in ____ stage where they are best seen

A

Metaphase

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7
Q

T or F: the sex chromosomes are separated from the autosome arrangement

A

True

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8
Q

T or F: autosomal chromosomes are arranged by size, with 1 being the smallest and 22 being the largest

A

F (1 = largest; 22 = smallest)

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9
Q

chromosomes means

A

colored bodies

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10
Q

Classical or Molecular: can observe diseases caused by deletions, translocations, insertions, and other chromosomal macrostructure changes

A

Classical

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11
Q

Human karyotype is not normal

A

Aneuploidy

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12
Q

How many autosomes and sex chromosomes does a normal human have?

A

22 pairs of autosomes, 1 pair of sex chromosome

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13
Q

Classical or Molecular:

probing tool is used to stick

A

Molecular

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14
Q

term for the mixing of native & nonnative genes

A

hybridization

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15
Q

Classical or Molecular: hybridization such as fluorescent in situ hybridization and comparative genomic hybridization are used

A

Molecular

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16
Q

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

A

Molecular cytogenetics

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17
Q

hybridization method used for liquid blood samples such as blood

A

FISH

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18
Q

Summarized Cytogenetics Development according to Ferguson-Smith (2015) (3)

A
  1. Cell discovery
  2. Chromosome structure and components discovery
  3. Human cytogenetics emergence
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19
Q

HISTORY:

He observed the section of a cork through the use of a primitive type of microscope

A

Robert Hooke

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20
Q

T or F: In 1665, Robert Hooke observed the section of the cork and found that it was made up of small hollow units like honey comb.

A

T

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21
Q

Who termed the structural unit “cell”?

A

Robert Hooke

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22
Q

HISTORY:

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

A

Nehemiah Grew (1672)

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23
Q

T or F: Gumamela has complete reproductive organs

A

T

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24
Q

HISTORY

improved the microscope by the technique of grinding the lens.

A

Anthony van Leeuwenhoek

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25
Q

Which free cells did Leeuwenhoek study? (3)

A
  • protozoa
  • bacteria
  • blood cells
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26
Q

coined the term “animalcules”

A

Anthony van Leeuwenhoek

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27
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

Rudolf Jacob Camerarius

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28
Q

published the information on his work of plant hybridization. He made hybrids between
different varieties of tobacco and between some plant genera.

A

Joseph Gottlieb Kolreuter

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29
Q

How did Kolreuter show the equal contribution of male & female parents to their offspring?

A

By reciprocal crosses

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30
Q

HISTORY:

contemporary to Darwin

A

Jean-Baptiste Lamarck

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31
Q

proposed a theory of evolution known as theory of inheritance of acquired characters

A

Jean-Baptiste Lamarck

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32
Q

Variation in an individual is brought about by: (3)

A
  • Conscious effort
  • Reaction to environment, and
  • Use and disuse of the organ
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33
Q

_____ carries forward the changes that are acquired during the life time of the individual

A

Heredity

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34
Q

believes in the theory of adaptation such as in the case of the giraffes

A

Jean-Baptiste Lamarck

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35
Q

HISTORY:

studied plant cells and discovered nucleus

A

Robert Brown

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36
Q

scientific name of the plant where Brown discovered the nucleus

A

Tradescantia (Spiderwort)

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37
Q

a botanist who described the nucleus as the central feature of living cells

A

Robert Brown

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38
Q

HISTORY:

Described Cell division but did not know nuclear division yet. Showed that cells arise through partition walls formed between preexisting cells.

A

Hugo von Mohl

39
Q

HISTORY

forth the cell theory on the basis of accumulated experimental results.

A

Matthias Jacob Schleiden & Theodor Schwann

40
Q

T or F: The cell is the smallest structural element of a multicellular organism and as a unit, it is itself an elementary organism

41
Q

T or F: In a multicellular organism, every cell has a specific function to perform, and represents an individual unit

A

F (working unit not individual’

42
Q

basic foundation of living organisms except for viruses

A

cells can only arise from other living cells

43
Q

summarized the cell theory

A

Rudolph Virchow

44
Q

HISTORY:

1st discovered chromosomes in pollen

A

Karl Nageli/ Wilhelm Hofmeister

45
Q

introduced aniline staining to observe chromosomes during cell division

A

Walther Fleming

46
Q

Aniline stain is a ____ dye, thus it stains ____ structure

A

basic, acidic

47
Q

makes DNA acidic and thus allowing it to stain

A

phosphate groups

48
Q

aniline stain is said to be derived from?

A

coal tar (benzene derivative na carcinogenic)

49
Q

coined the term “chromosome” after staining techniques had been developed. It was to describe the structures studied by Flemming.

50
Q

He is an American Zoologist which is known for studying sex chromosomes (determination of X&Y)

A

Theophilus Painter

51
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

Theophilus Painter

52
Q

carried his work in identifying genes in fruit flies in the salivary glands and other Dipteran larvae

A

Theophilus Painter

53
Q

T or F: Painter’s first chromosome count was 30 pairs and was believed for 24 years

A

F (24 pairs, 30 years)

54
Q

Action of colchicine to arrest cells in metaphase (2)

A
  1. depolymerization of tubulin
  2. prevention of mitotic spindles to obstruct cell divisiom
55
Q

composition of colchicine (60, 30, 10, 1)

A

60% ethanol
30% chloroform
10% glacial acetic acid
1g. ferric chloride

56
Q

corrected painter by showing that human cells have 23 pairs of chromosomes

A

John Hin Tijo & Albert Levan

57
Q

_____ method of Moorehead et al., was adopted by many cytogeneticists

A

Peripheral leukocyte culture method

58
Q

Why are leukocytes used instead of RBCs

A

When RBCs mature they remove their nucleus, losing genetic material.

59
Q

which specific leukocyte is used for the culture method?

A

lymphocyte

60
Q

Which protease is used to cut the proteins for karyotyping

61
Q

which stain is used for G-banding?

62
Q

which is added in the culture to promote division of lymphocytes?

A

phytohemagglutinin

63
Q

At what temperature and how many days is the culture done?

A

37C, 3 days

64
Q

which saline is utilized to induce lysis of cells in the culture method?

A

hypotonic (0.1)

65
Q

In 1960s ____ & ____ developed in situ hybridization techniques

A

Joseph Gall & Mary Lou Pardue

66
Q

What are paired factors according to Mendel (3)

A
  • inherited
  • segregate independently during gamete formation
  • independently sort
67
Q

In 1902, _____ & ______ discovered the chromosome theory of inheritance

A

Sutton & Boveri

68
Q

Chromosome Theory of Inheritance (3)

A
  • Chromosomes occur in pairs and are inherited from
    parents (the paternal and maternal chromosome)
  • Chromosomes segregate in gamete formation
    (haploid)
  • Chromosome pairs segregate independently
69
Q

People who made the 1st genetic linkage maps from fruit fly (4)

A

Morgan, Sturtevant, Bridges, Muller

70
Q

He pioneered plant cytogenetics and believed in eugenics

A

Cyril Darlington

71
Q

T or F: Protein and not DNA in chromosome is the heredity material

72
Q

Experiment that identified that protein is not the hereditary material. It utilized strains (rough & smooth) and injecting it to mices

A

Genetic transformation Experiment

73
Q

Who pioneered the genetic transformation experiment?

A

Frederick Griffith

74
Q

discovered the amount of nitrogen base in chromosome and how it pairs

75
Q

___ & ____ discovered the double helix in DNA

A

Watson & Crick

76
Q

Watson & Crick’s discovery was based on _____ who performed XRay Crystallography

A

Rosalind Franklin

77
Q

Discovered the genetic code in protein synthesis (codon)

A

Crick & Brenner et al.

78
Q

utilized CGH in the analysis of solid tumors, with first report in 1992

A

Kallioniemi and Colleagues

79
Q

Implementation of array CGH whereby DNA microarrays are used instead of the traditional metaphase chromosome preparation using tumor cells

A

Solinas-Tolodo et al.

80
Q

implemented array CGH whereby DNA microarrays are used instead of the traditional metaphase chromosome preparation by use of breast cancer cells

A

Pinkel et al.

81
Q

the ____ _____ project was launched in the US in 1990 for analyzing the whole genomic map

A

Human Genome

82
Q

The encyclopedia containing medical information for shotgun sequencing was established in 1993. It was developed by _____ founded near Cambridge UK

A

Sanger Centre

83
Q

Identify the Syndrome: trisomy 21

A

Down Syndrome

84
Q

Identify the Syndrome: 45 X

A

Turner Syndrome

85
Q

Identify the Syndrome: 47 XXY

A

Klinefelter Syndrome

86
Q

Identify the Syndrome: Trisomy 13

A

Patau syndrome

87
Q

Identify the Syndrome: trisomy 18

A

Edwards Syndrome

88
Q

Identify the associated sickness: Philadelphia Chromosome

A

chronic myeloid leukemia

89
Q

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

90
Q

Which cell stage does I-FISH use?

A

Interphase

91
Q

Cytogenetics Importance (3)

A
  • Prenatal Studies
  • Human Cancer Studies
  • Other studies (subtelomeric aberrations & microdeletions)
92
Q

T or F: prenatal studies can be done via amniotic fluid through amniocentesis

93
Q

T or F: Amplification of oncogenes (e.g.N-myc, C-myc, and HER-2/neu) can be detected by FISH or CGH studies of tumor tissues

1S CTG (3 decks)

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