UNIT I: (Lesson 1) INTRODUCTION TO CYTOGENETICS

Question 1

A branch of genetics that
studies the
structure of
DNA within
the cell
nucleus.

Answer 1

Cytogenetics

Question 2

It is the studies the
number and morphology of
chromosomes.

Using
chromosome banding
techniques (classical
cytogenetics) or hybridization
fluorescently labeled probes
(molecular cytogenetics).

Answer 2

Cytogenetics

Question 3

Fluorescently labeled
probes (molecular
cytogenetics) is shown

Answer 3

Cytogenetics

Question 4

What are the 3 summarized Cytogenetics Development?

(Ferguson-Smith,2015)

Answer 4

A.Cell discovery
B.Chromosome structure and components discovery
C. Human cytogenetics emergence

Question 5

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.

1665

Answer 5

Robert Hooke (1635-1703)

Question 6

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

1672

Answer 6

Nehemiah
Grew (1628-1711)

Question 7

Who improved the microscope by the technique of grinding the lens. He reported the studies on free cells such as protozoa and bacteria and thus opened the door to a new world of microorganisms. He also studied blood cells.

1674

Answer 7

Anthony van Leeuwenhoek (1632-1723)

Question 8

Who 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.

1694

Answer 8

Rudolf Jacob Camerarius (1665-1721)

Question 9

Who published the information on his work of plant hybridization. He made hybrids between different varieties of tobacco and between some plant genera. By using reciprocal crosses, he showed the equal contribution of male and female parents to their offspring.

1761-1766

Answer 9

Joseph Gottlieb Kolreuter (1733-1806)

Question 10

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

1. Variation in an individual is brought about by:
   (a) conscious effort,
   (b) reaction to environment, and (c) use and disuse of the organ.
2. Heredity carries forward the changes that are acquired during the life time of the individual.

1809

Answer 10

Jean Baptiste Lamarck (1744-1829)

Question 11

Who studied plant cells and discovered nucleus in Tradescantia. He described it as a central feature of living cells?

1828

Answer 11

Robert Brown (1773-1858)

Question 12

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

1835

Answer 12

Hugo von Mohl (1805-1872)

Question 13

Who put forth the cell theory on the basis of accumulated experimental results:
* The cell is the smallest structural element of a multicellular organism and as a unit, it is itself an elementary organism.
* In a multicellular organism, every cell has a specific function to perform, and represents a working unit.
* A cell can only be produced from another cell by cell division.

1838-1839

Answer 13

Matthias Jacob Schleiden (1804-1881) and Theodor Schwann (1810-1882)

Question 14

In the Brief History of Cytogenetics, who is the 1st discovered chromosomes in pollen?

Answer 14

(1842) Karl Nägeli

Question 15

Who introduced aniline staining to observe chromosomes during cell division?

Answer 15

(1870) Walther Flemming

Question 16

Who coined the term “chromosome” after staining techniques had been developed?

Answer 16

(1888) Waldeyer

Question 17

Who 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?

Answer 17

(1923) Theophilus Painter

Question 18

In what year, Cytogenetic technique improvements (use of colchicines to
arrest cells in metaphase)

Answer 18

1950

Question 19

Who showed that human cells have 23 pairs of
chromosomes?

Answer 19

1956 Tjio and Levan

Question 20

In what year, peripheral leukocyte culture method of Moorehead et al. was
adopted by many cytogeneticists

Answer 20

1960

Question 21

Who developed the hybridization techniques in 1960s?

Answer 21

Joseph Gall and Mary Lou Pardue

Question 22

In 1865, who discovered the “paired factors”?

Answer 22

Mendel

Question 23

Mendel’s Laws:

Answer 23

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

Question 24

Who discovered the Chromosome theory of inheritance?

Answer 24

1902,Sutton & Boveri

Question 25

Chromosomal Theory of inheritance:

Answer 25

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

Question 26

First genetic linkage map, polytene chromosomes isolation from fruit fly and first plant cytogenetics:

Answer 26

1. Polytene chromosomes were first discovered in insects (Balbiani 1881)
2. Morgan, Sturtevant, Bridges and Muller made the 1st genetic linkage maps from fruit fly
3. 1920, Cyril Darlington pioneered plant cytogenetics

Question 27

In what year, DNA and not protein in chromosome is the heredity material (genetic transformation expt.)

In Chromosome Components & Structure Discovery

Answer 27

1944

Question 28

In Chromosome Components & Structure Discovery, who discovered the amount of nitrogen base in chromosome (Chargaff’s rule)?

Answer 28

Chargaff

1950

Question 29

In Chromosome Components & Structure Discovery, who iscovered the double helix?

Answer 29

Watson and Crick

1953

Question 30

In Chromosome Components & Structure Discovery, in what year is the Discovery of the genetic code in protein synthesis?

Answer 30

1961

(Crick, Brenner et al., 1961)

Question 31

True or False: The first report of CGH analysis was by Kallioniemi and colleagues in 1992 at the University of California, San Francisco, who utilized CGH in the analysis of solid tumors

Answer 31

True

Question 32

True or False: The implementation of array CGH, whereby DNA microarrays 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

Answer 32

True

Question 33

True or False: In Emergence of Human Cytogenetics, This enabled detection of numerical chromosome aberrations like trisomy 21 in Down syndrome

Answer 33

True

Question 34

How many X in Turner syndrome?

Answer 34

45

Question 35

How many XXY in Klinefelter syndrome?

Answer 35

47

Question 36

True or False: Philadelphia chromosome in a patient with chronic myeloid leukemia.
* It was also reported that cells cultured from amniotic fluid could be used to determine the chromosome content of the fetus

Answer 36

True