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
Which free cells did Leeuwenhoek study? (3)
* protozoa * bacteria * blood cells
26
coined the term “animalcules”
Anthony van Leeuwenhoek
27
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.
Rudolf Jacob Camerarius
28
published the information on his work of plant hybridization. He made hybrids between different varieties of tobacco and between some plant genera.
Joseph Gottlieb Kolreuter
29
How did Kolreuter show the equal contribution of male & female parents to their offspring?
By reciprocal crosses
30
HISTORY: contemporary to Darwin
Jean-Baptiste Lamarck
31
proposed a theory of evolution known as theory of inheritance of acquired characters
Jean-Baptiste Lamarck
32
Variation in an individual is brought about by: (3)
* Conscious effort * Reaction to environment, and * Use and disuse of the organ
33
_____ carries forward the changes that are acquired during the life time of the individual
Heredity
34
believes in the theory of adaptation such as in the case of the giraffes
Jean-Baptiste Lamarck
35
HISTORY: studied plant cells and discovered nucleus
Robert Brown
36
scientific name of the plant where Brown discovered the nucleus
Tradescantia (Spiderwort)
37
a botanist who described the nucleus as the central feature of living cells
Robert Brown
38
HISTORY: Described Cell division but did not know nuclear division yet. Showed that cells arise through partition walls formed between preexisting cells.
Hugo von Mohl
39
HISTORY forth the cell theory on the basis of accumulated experimental results.
Matthias Jacob Schleiden & Theodor Schwann
40
T or F: The cell is the smallest structural element of a multicellular organism and as a unit, it is itself an elementary organism
T
41
T or F: In a multicellular organism, every cell has a specific function to perform, and represents an individual unit
F (working unit not individual’
42
basic foundation of living organisms except for viruses
cells can only arise from other living cells
43
summarized the cell theory
Rudolph Virchow
44
HISTORY: 1st discovered chromosomes in pollen
Karl Nageli/ Wilhelm Hofmeister
45
introduced aniline staining to observe chromosomes during cell division
Walther Fleming
46
Aniline stain is a ____ dye, thus it stains ____ structure
basic, acidic
47
makes DNA acidic and thus allowing it to stain
phosphate groups
48
aniline stain is said to be derived from?
coal tar (benzene derivative na carcinogenic)
49
coined the term “chromosome” after staining techniques had been developed. It was to describe the structures studied by Flemming.
Waldeyer
50
He is an American Zoologist which is known for studying sex chromosomes (determination of X&Y)
Theophilus Painter
51
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
Theophilus Painter
52
carried his work in identifying genes in fruit flies in the salivary glands and other Dipteran larvae
Theophilus Painter
53
T or F: Painter’s first chromosome count was 30 pairs and was believed for 24 years
F (24 pairs, 30 years)
54
Action of colchicine to arrest cells in metaphase (2)
1. depolymerization of tubulin 2. prevention of mitotic spindles to obstruct cell divisiom
55
composition of colchicine (60, 30, 10, 1)
60% ethanol 30% chloroform 10% glacial acetic acid 1g. ferric chloride
56
corrected painter by showing that human cells have 23 pairs of chromosomes
John Hin Tijo & Albert Levan
57
_____ method of Moorehead et al., was adopted by many cytogeneticists
Peripheral leukocyte culture method
58
Why are leukocytes used instead of RBCs
When RBCs mature they remove their nucleus, losing genetic material.
59
which specific leukocyte is used for the culture method?
lymphocyte
60
Which protease is used to cut the proteins for karyotyping
trypsin
61
which stain is used for G-banding?
Giemsa
62
which is added in the culture to promote division of lymphocytes?
phytohemagglutinin
63
At what temperature and how many days is the culture done?
37C, 3 days
64
which saline is utilized to induce lysis of cells in the culture method?
hypotonic (0.1)
65
In 1960s ____ & ____ developed in situ hybridization techniques
Joseph Gall & Mary Lou Pardue
66
What are paired factors according to Mendel (3)
* inherited * segregate independently during gamete formation * independently sort
67
In 1902, _____ & ______ discovered the chromosome theory of inheritance
Sutton & Boveri
68
Chromosome Theory of Inheritance (3)
* 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
People who made the 1st genetic linkage maps from fruit fly (4)
Morgan, Sturtevant, Bridges, Muller
70
He pioneered plant cytogenetics and believed in eugenics
Cyril Darlington
71
T or F: Protein and not DNA in chromosome is the heredity material
F
72
Experiment that identified that protein is not the hereditary material. It utilized strains (rough & smooth) and injecting it to mices
Genetic transformation Experiment
73
Who pioneered the genetic transformation experiment?
Frederick Griffith
74
discovered the amount of nitrogen base in chromosome and how it pairs
Chargaff
75
___ & ____ discovered the double helix in DNA
Watson & Crick
76
Watson & Crick’s discovery was based on _____ who performed XRay Crystallography
Rosalind Franklin
77
Discovered the genetic code in protein synthesis (codon)
Crick & Brenner et al.
78
utilized CGH in the analysis of solid tumors, with first report in 1992
Kallioniemi and Colleagues
79
Implementation of array CGH whereby DNA microarrays are used instead of the traditional metaphase chromosome preparation using **tumor cells**
Solinas-Tolodo et al.
80
implemented array CGH whereby DNA microarrays are used instead of the traditional metaphase chromosome preparation by use of **breast cancer cells**
Pinkel et al.
81
the ____ _____ project was launched in the US in 1990 for analyzing the whole genomic map
Human Genome
82
The encyclopedia containing medical information for shotgun sequencing was established in 1993. It was developed by _____ founded near Cambridge UK
Sanger Centre
83
Identify the Syndrome: trisomy 21
Down Syndrome
84
Identify the Syndrome: 45 X
Turner Syndrome
85
Identify the Syndrome: 47 XXY
Klinefelter Syndrome
86
Identify the Syndrome: Trisomy 13
Patau syndrome
87
Identify the Syndrome: trisomy 18
Edwards Syndrome
88
Identify the associated sickness: Philadelphia Chromosome
chronic myeloid leukemia
89
T or F: cells cultured from amniotic fluid could be used to determine the chromosome content of the fetus
T
90
Which cell stage does I-FISH use?
Interphase
91
Cytogenetics Importance (3)
* Prenatal Studies * Human Cancer Studies * Other studies (subtelomeric aberrations & microdeletions)
92
T or F: prenatal studies can be done via amniotic fluid through amniocentesis
T
93
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
T