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Cytogenetics > Unit 1 - Intro to Cyto > Flashcards

Unit 1 - Intro to Cyto 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

2 types of cytogenetics based on techniques

A

classical cytogenetics
molecular cytogenetics

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4
Q

chromosome banding techniques

a. classical cytogenetics
b. molecular cytogenetics

A

classical cytogenetics

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5
Q

hybridization fluorescently labeled probes

a. classical cytogenetics
b. molecular cytogenetics

A

molecular cytogenetics

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6
Q

How are chromosomes arranged?

A

largest to smallest

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7
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 (1635-1703)

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8
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 (1628- 1711)

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9
Q

Who improved the microscope by the technique of grinding the lens?

A

Anthony van Leeuwenhoek (1632-1723)

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10
Q

Who reported the studies on free cells such as protozoa and bacteria and thus opened the door to a new world of microorganisms?

A

Anthony van Leeuwenhoek

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11
Q

Who showed the presence of sex in plants?

A

Rudolf Jacob Camerarius (1665- 1721)

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12
Q

Who demonstrated that in maize, seeds are not produced unless pollen is applied to the pistil?

A

Rudolf Jacob Camerarius

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13
Q

Who published the information on his work of plant hybridization?

A

Joseph Gottlieb Kolreuter (1733-1806)

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14
Q

Who concluded that pollen is the male element, while pistil is the female element?

A

Rudolf Jacob Camerarius

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15
Q

Who made hybrids between different varieties of tobacco and between some plant genera?

A

Joseph Gottlieb Kolreuter (1733- 1806)

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16
Q

Joseph Gottlieb Kolreuter (1733- 1806) used ________ ___________ to show the equal contribution of male and female parents to their offspring.

A

reciprocal crosses

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17
Q

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

A

Jean Baptiste Lamarck (1744-1829)

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18
Q

According to Jean Lamarck, variation in an individual is brought about by?

A

(a) conscious effort
(b) reaction to environment
(c) use and disuse of the organ

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19
Q

According to Jean Lamarck, ________ carries forward the changes that are acquired during the life time of the individual.

A

heredity

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20
Q

Robert Brown (1773-1858) studied plant cells and discovered _________ in __________ (what book?).

A

nucleus
Tradescantia

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21
Q

central feature of living cells as described by Robert Brown

A

nucleus

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22
Q

Who described cell division and showed that cells arise through partition walls formed between preexisting cells?

A

Hugo von Mohl (1805-1872)

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23
Q

Matthias Jacob Schleiden (1804-1881) and Theodor Schwann (1810-1882) put forth the cell theory on the basis of accumulated experimental results, which are?

A
  1. The cell is the smallest structural element of a multicellular organism.
  2. 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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24
Q

Who first discovered chromosomes in pollen?

A

Karl Nägeli

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25
Q

Who introduced aniline staining to observe chromosomes during cell division?

A

Walther Flemming

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26
Q

Waldeyer coined the term “____________” after staining techniques had been developed

A

chromosome

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27
Q

Theophilus Painter derived an estimate of ___ chromosomes using images of nuclei reconstructed from thin sections of human testicular tissue embedded in paraffin and stained with iron hematoxylin.

A

48

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28
Q

discovered by Anthony van Leeuwenhoek (means microscopic organisms)

A

animalcules

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29
Q

Jean Baptiste Lamarck is a contemporary of?

A

Charles Darwin

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30
Q

Aniline staining is derived from?

A

coal tar

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31
Q

Aniline stains:
acidic or basic structures?

A

acidic

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32
Q

Which part of nucleic acids is stained by aniline?

A

phosphate group

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33
Q

DNA

a. acidophilic, acidic
b. acidophilic, basic
c. basophilic, acidic
d. basophilic, basic

A

c. basophilic, acidic

34
Q

What did Theophilus Painter discover in human chromosomes

A

sex-determination genes X and Y

35
Q

Greek word:
chroma - ________
soma - ________

A

chroma - colored
soma - body
“colored body”

36
Q

Cytogenetic technique improvements (use of __________ to arrest cells in __________)

A

colchicines
metaphase

37
Q

Tjio and Levan showed that human cells have ____ pairs of chromosomes

A

23

38
Q

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

A

peripheral leukocyte culture method
(lymphocyte for nucleus differentiation)

39
Q

Colchicine interferes with the normal function of __________

A

microtubules

40
Q

In Karyotyping:
After the blood is cultured, colchicine and hypotonic saline are added, cells are fixed onto slide, digested with ________ and stained with _________.

A

trypsin
giemsa

41
Q

amount of blood collected for karyotyping

A

5 mL venous blood

42
Q

Blood for Karyotyping:
culture at what temperature
for _____ days

A

37C
3 days

43
Q

techniques initially developed by Joseph Gall and Mary Lou Pardue in 1960s

A

In situ hybridization techniques

44
Q

In 1865, Mendel discovered “paired factors”:
3 tenets of Mendel’s Law

A
  • “paired factors” are inherited
  • “paired factors” segregate during gamete formation
  • “paired factors” independently sort
45
Q

1902,Sutton & Boveri discovered the Chromosome theory of inheritance:
3 tenets of Chromosomal Theory of inheritance

A
  • Chromosomes occur in pairs & are inherited from parents
  • Chromosomes segregate in gamete formation (haploid)
  • Chromosome pairs segregate independently
46
Q

First genetic linkage map, polytene chromosomes isolation from ________ _______ and first plant cytogenetics.

A

fruit flies

47
Q

T/F:
Linkage maps are a Mendelian principle

A

false

48
Q

T/F:
Linked genes do not detach

A

true

49
Q

Polytene chromosomes were first discovered in _________ (Balbiani 1881)

A

insects (fruit flies)
(Drosophila larval salivary glands)

50
Q

Who made the first genetic linkage map from fruit fly?

A

Morgan, Sturtevant, Bridges, and Muller

51
Q

Who pioneered plant cytogenetics in 1920?

A

Cyril Darlington

52
Q

part of the chromosome that is the heredity material

A

DNA

53
Q

Chargaff discovered the amount of _________ ________ in chromosome;
what do you call this rule?

A

nitrogen base
Chargaff’s rule

54
Q

Discovery made by Watson and Crick

A

double helix

55
Q

Discovery of _________ ________ in protein synthesis (Crick, Brenner et al., 1961)

A

genetic code

56
Q

The implementation of array CGH, whereby _____ ____________ are used instead of the traditional metaphase chromosome preparation, was pioneered by Solinas-Tolodo et al. in 1997 using tumor cells and Pinkel et al. in 1998 by use of breast cancer cells

A

DNA microarrays

57
Q

What condition:
an extra copy of chromosome 21 (trisomy 21)

A

Down syndrome

58
Q

What condition:
individuals have a single X chromosome (45, X) instead of the typical XX or XY

A

Turner syndrome

59
Q

What condition:
an extra X chromosome in males
47, XXY

A

Klinefelter syndrome

60
Q

What condition:
an extra copy of chromosome 13 (trisomy 13)

A

Patau syndrome

61
Q

What condition:
an extra copy of chromosome 18 (trisomy 18)

A

Edwards syndrome

62
Q

a specific chromosomal abnormality associated with chronic myeloid leukemia (CML)

A

Philadelphia chromosome

63
Q

The Philadelphia chromosome results from a translocation between chromosomes ___ and ___

A

9 and 22
(translocation that can cause cancer)

64
Q

cells cultured from _________ (what sample?) could be used to determine the chromosome content of the fetus

A

amniotic fluid

65
Q

a molecular cytogenetic technique used to analyze and compare the DNA copy number variations between two genomes

A

Comparative Genomic Hybridization (CGH)

66
Q

term used for chromosomal abnormalities characterized by an abnormal number of chromosomes in a cell

A

aneuploidies

67
Q

In prenatal studies, chromosomal disorders non-invasive detection uses what sample?

A

Maternal Blood

68
Q

In Prenatal Diagnosis of the Common Aneuploidies, 95% of the chromosomal aberrations causing live-born birth defects are which Aneuploidies chromosomes?

A

13, 18, 21, X, and Y

69
Q

In Prenatal Diagnosis of the Common Aneuploidies, modern detection technique is through _____________ with uncultured _________. (Klinger et al, 1992,Ballif et al, 2000).

A

interphase FISH prenatal diagnosis
amniocytes

70
Q

In Chromosomal Disorders Non-invasive Detection, _____________ analysis of fetal cells by FISH is a useful method for prenatal diagnosis of chromosomal disorders.

A

Maternal Blood Cytogenetic

71
Q

In Chromosomal Disorders Non-invasive Detection, fetal nucleated
_________ which pass into the maternal circulation provide a cell source for noninvasive prenatal genetic diagnosis)

A

RBCs

72
Q

T/F:
The identification of specific chromosomal translocations and gene rearrangements is important for determining a therapy plan, monitoring treatment, and predicting prognosis.

A

True

73
Q

can detect chromosomal translocations in hematologic neoplasms, malignant lymphomas, and solid tumors have been identified

A

molecular cytogenetics

74
Q

For patients with chronic myeloid leukemia, it has been shown that _________ _______ is highly sensitive in detecting the BCR/ABL fusion (Dewald et al, 1998).

A

interphase FISH

75
Q

can detect specific genes in many cases of acute leukemia, for example, the involvement of the MLL gene in an 11q23 rearrangement (Fleischman et al.,1996), and the TEL/AML1 fusion in childhood acute lymphoblastic leukemia (Rafi et al, 2000).

A

Molecular Cytogenetics

76
Q

In the Detection of Specific Translocations and Gene Rearrangements, _____ _______ for several rearranged genes in non-Hodgkin lymphomas are now commercially available.

A

FISH probes

77
Q

T/F:
In the Analysis of Gains and Losses of Chromosomes or Chromosomal Regions in Tumors, through the Molecular Cytogenetics, interphase FISH approach, chromosomal aneuploidies can be detected by cell culturing in any given tissue or cell source, such as touch preparations, sections of frozen tumor,and paraffin-embedded tissue.

A

false
without cell culturing

78
Q

T/F:
In the Analysis of Gains and Losses of Chromosomes or Chromosomal Regions in Tumors, almost all types of clinical specimens can be used for CGH studies of tumors.

A

true

79
Q

T/F:
Gains or losses of individual chromosomes or chromosome regions is correlated with particular tumors, different stages of the tumor, and can be used in the prognosis of patients (Brown et al, 1999).

A

true

80
Q

T/F:
Deletion of tumor suppressor genes (e.g.p53 and RB-1) and amplification of oncogenes, (e.g.N-myc, C-myc, and HER-2/neu) can be detected by FISH or CGH studies of tumor tissues.

A

true

81
Q

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

A

molecular cytogenetics

Cytogenetics (1 decks)

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