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BIOCHEM > CYTOGENETICS > Flashcards

CYTOGENETICS Flashcards

1
Q

branch of genetics that studies the structure of DNA within the nucleus

A

cytogenetics

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2
Q

observing numerical, structural, and functional abnormalities of genetic materials present in diseases

A

cytogenetics

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3
Q

who discovered chromosomes in pollen

A

Karl Nageli

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4
Q

When did Karl Nageli discover chromosomes in protein

A

1842

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5
Q

introduced aniline staining to observe chromosomes during cell division

A

Walther Flemming

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6
Q

When did Walther Flemming introduce aniline staining?

A

1870

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7
Q

coined the term ‘chromosome’

A

Heidrich Wilhelm Gottfried von Waldeyer-Hartz

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8
Q

When did Waldeyer coin the term ‘chromosome’

A

1888

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9
Q

derived an estimate of 46 chromosomes using images of nuclei reconstructed from thin sections of human testicular tissue; stain: iron hematoxylin

A

Theophilus Painter

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10
Q

When did Theophilus Painter conduct his work?

A

1923

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11
Q

When were cytogenetic technique improvements using colchicine arrest cells in metaphase conducted?

A

1950

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12
Q

for gout treatments derived from Colchicum autumnale

A

colchicine

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13
Q

Who showed that human cells have 23 pairs of chromosomes?

A

Joe Hin Tijo and Albert Levan

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14
Q

When did Tijo and Levan show that human cells have 23 pairs of chromosomes?

A

1956

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15
Q

When did the peripheral leukocyte culture method by Moorehead et al. adopted by many cytogenetics happen?

A

1960

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16
Q

When did Chargaff discover the amount of nitrogen base in chromosomes?

A

1950

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17
Q

When did Watson and Crick discover the double helix

A

1953

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18
Q

Who discovered the double helix?

A

Watson and Crick

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19
Q

Aneuploidy - 45, X

A

Turner syndrome

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20
Q

Aneuploidy - 47, XXY

A

Klienefelter syndrome

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21
Q

Philadelphia chromosomes

A

Chronic Myeloid Leukemia

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22
Q

traditional or conventional means which are basic

A

Classical cytogenetic

23
Q

complex cytogenetic which uses probes, markers, stains, fluorescence

A

Molecular cytogenetics

24
Q

example of classical techniques

A

banding techniques (karyotypes)

25
Q

example of molecular technique

A

hybridization technique

26
Q

abnormal number of chromosomes

A

aneuploidy

27
Q

2 applications of Cytogenetics in diagnostic techniques and Methods

A
  1. pre- natal studies
  2. human cancer studies
28
Q

95% of chromosomal aberrations causing lives = born birth defects:
aneuploidies in CHR, 13, 18, 21, X, and Y

A

prenatal diagnosis of aneuploidies

29
Q

What did Mendel discover in 1865

A

paired factors

30
Q

maternal blood cytogenetic analysis of fetal cells by fish

A

non invasive detection of chromosomal disorders

31
Q

different physical feature (ex. different colors in 1 flower)

A

chimerism

32
Q

occurs when a person has two or more genetically different sets of cells in his or her body

A

mosaicism

33
Q

Who originally discovered the double helix

A

Rosalind Franklin

34
Q

What did chargaff discover?

A

Nitrogenous base

35
Q

What did Moorehead et al discover in in 1960?

A

Peripheral leukocytes

36
Q

What did Brenner discover in 1961?

A

Genetic code in protein synthesis

37
Q

Who discovered the genetic code in protein synthesis in 1961?

A

Crick, Sydney Brenner et al.

38
Q

What disorder is associated with the Philadelphia Chromosome?

A

Chronic myeloid leukemia

39
Q

What segregates during gamete formation

A

Paired factors

40
Q

Discovered the chromosome theory of inheritance

A

Sutton and Boveri

41
Q

What did sutton and boveri discover and when did it happen

A

Chromosome Theory of Inheritance (1902)

42
Q

95% of chromosomal aberrations causing lives = born birth defects:

A

Aneuploidy in CHR, 13, 18, 21, X, and Y

43
Q

Transcribe FISH

A

Fluorescence in situ hybridization

44
Q

Transcribe CGH

A

Comparative genomic hybridization

45
Q

What does TSG do?

A

Makes sure that excessive and premature proliferation of cells are avoided

46
Q

What does ONC do?

A

Promotes proliferation of cells

47
Q

BCR/ABL gene fusion

A

Philadelphia chromosome

48
Q

HER-2/NEU

A

for breast cancer

49
Q

ONC

A

oncogenes

50
Q

TSG

A

Tumor suppressor genes

51
Q

Who enabled detection of numerical chromosome abberations like trisomy 21

A

Kannan and Alwi 2009

52
Q

BCR/ABL gene fusion

A

Chronic Myeloid Leukemia

53
Q

MLL gene in an 11023

A

Acute Leukemia

54
Q

TEL/AML fusion in

A

Childhood acute lymphoblastic Leukemia

BIOCHEM (6 decks)

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