CYTOGENETICS

Question 1

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

Answer 1

cytogenetics

Question 2

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

Answer 2

cytogenetics

Question 3

who discovered chromosomes in pollen

Answer 3

Karl Nageli

Question 4

When did Karl Nageli discover chromosomes in protein

Answer 4

1842

Question 5

introduced aniline staining to observe chromosomes during cell division

Answer 5

Walther Flemming

Question 6

When did Walther Flemming introduce aniline staining?

Answer 6

1870

Question 7

coined the term ‘chromosome’

Answer 7

Heidrich Wilhelm Gottfried von Waldeyer-Hartz

Question 8

When did Waldeyer coin the term ‘chromosome’

Answer 8

1888

Question 9

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

Answer 9

Theophilus Painter

Question 10

When did Theophilus Painter conduct his work?

Answer 10

1923

Question 11

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

Answer 11

1950

Question 12

for gout treatments derived from Colchicum autumnale

Answer 12

colchicine

Question 13

Who showed that human cells have 23 pairs of chromosomes?

Answer 13

Joe Hin Tijo and Albert Levan

Question 14

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

Answer 14

1956

Question 15

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

Answer 15

1960

Question 16

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

Answer 16

1950

Question 17

When did Watson and Crick discover the double helix

Answer 17

1953

Question 18

Who discovered the double helix?

Answer 18

Watson and Crick

Question 19

Aneuploidy - 45, X

Answer 19

Turner syndrome

Question 20

Aneuploidy - 47, XXY

Answer 20

Klienefelter syndrome

Question 21

Philadelphia chromosomes

Answer 21

Chronic Myeloid Leukemia

Question 22

traditional or conventional means which are basic

Answer 22

Classical cytogenetic

Question 23

complex cytogenetic which uses probes, markers, stains, fluorescence

Answer 23

Molecular cytogenetics

Question 24

example of classical techniques

Answer 24

banding techniques (karyotypes)

Question 25

example of molecular technique

Answer 25

hybridization technique

Question 26

abnormal number of chromosomes

Answer 26

aneuploidy

Question 27

2 applications of Cytogenetics in diagnostic techniques and Methods

Answer 27

1. pre- natal studies 2. human cancer studies

Question 28

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

Answer 28

prenatal diagnosis of aneuploidies

Question 29

What did Mendel discover in 1865

Answer 29

paired factors

Question 30

maternal blood cytogenetic analysis of fetal cells by fish

Answer 30

non invasive detection of chromosomal disorders

Question 31

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

Answer 31

chimerism

Question 32

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

Answer 32

mosaicism

Question 33

Who originally discovered the double helix

Answer 33

Rosalind Franklin

Question 34

What did chargaff discover?

Answer 34

Nitrogenous base

Question 35

What did Moorehead et al discover in in 1960?

Answer 35

Peripheral leukocytes

Question 36

What did Brenner discover in 1961?

Answer 36

Genetic code in protein synthesis

Question 37

Who discovered the genetic code in protein synthesis in 1961?

Answer 37

Crick, Sydney Brenner et al.

Question 38

What disorder is associated with the Philadelphia Chromosome?

Answer 38

Chronic myeloid leukemia

Question 39

What segregates during gamete formation

Answer 39

Paired factors

Question 40

Discovered the chromosome theory of inheritance

Answer 40

Sutton and Boveri

Question 41

What did sutton and boveri discover and when did it happen

Answer 41

Chromosome Theory of Inheritance (1902)

Question 42

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

Answer 42

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

Question 43

Transcribe FISH

Answer 43

Fluorescence in situ hybridization

Question 44

Transcribe CGH

Answer 44

Comparative genomic hybridization

Question 45

What does TSG do?

Answer 45

Makes sure that excessive and premature proliferation of cells are avoided

Question 46

What does ONC do?

Answer 46

Promotes proliferation of cells

Question 47

BCR/ABL gene fusion

Answer 47

Philadelphia chromosome

Question 48

HER-2/NEU

Answer 48

for breast cancer

Question 49

ONC

Answer 49

oncogenes

Question 50

TSG

Answer 50

Tumor suppressor genes

Question 51

Who enabled detection of numerical chromosome abberations like trisomy 21

Answer 51

Kannan and Alwi 2009

Question 52

BCR/ABL gene fusion

Answer 52

Chronic Myeloid Leukemia

Question 53

MLL gene in an 11023

Answer 53

Acute Leukemia

Question 54

TEL/AML fusion in

Answer 54

Childhood acute lymphoblastic Leukemia