Unit 1: Intro to Cytogenetics

Question 1

Branch of genetics that studies the structure of DNA within the cell nucleus

Answer 1

Cytogenetics

Question 2

Studies the number and morphology of chromosomes.

Answer 2

Cytogenetics

Question 3

Chromosome Banding Techniques

Answer 3

Classical Cytogenetics

Question 4

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.

Answer 4

1665, Robert Hooke (1635 - 1703)

Question 5

Hybridization Fluorescently Labeled Probes

Answer 5

Molecular Cytogenetics

Question 6

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

Answer 6

1672, Nehemiah Grew (1628 - 1711)

Question 7

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.

Answer 7

1761 - 1766, Joseph Gottlieb Kolreuter (1733- 1806)

Question 8

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.

Answer 8

1674, Anthony van Leeuwenhoek (1632 - 1723)

Question 9

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.

Answer 9

1694, Rudolf Jacob Camerarius (1665 - 1721)

Question 10

Proposed a theory of evolution known as theory of inheritance

Answer 10

1809, Jean Baptiste Lamarck (1744-1829)

Question 11

Theory of Inheritance of acquired characters:

Answer 11

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

Question 12

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

Answer 12

1828, Robert Brown (1773 - 1858)

Question 13

Described cell division and showed that cells arise through partition walls formed between preexisting cells.

Answer 13

1835, Hugo von Mohl (1805-1872)

Question 14

Put forth the cell theory

Answer 14

1838 - 1839, Matthias Jacob Schleiden (1804-1881) and Theodor Schwann (1810-1882)

Question 15

Cell Theory Results

Answer 15

1. Cell is the smallest structural element
2. In a multicellular organism, every cell has a specific function to perform
3. A cell can only be produced from another cell by cell division

Question 16

1st discovered chromosomes in pollen

Answer 16

1842, Karl Nageli

Question 17

Introduced aniline staining to observe chromosomes during cell division

Answer 17

1870, Walther Flemming

Question 18

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 18

1923, Theophilus Painter

Question 19

Greek word of Chromosomes

Answer 19

“Chroma” - Colored
“Soma” - Body

Question 20

Coined the term “chromosome” after staining techniques had been developed

Answer 20

1888, Waldeyer

Question 21

To describe the deeply staining properties of these structures during cytological analysis

Answer 21

Colored Body

Question 22

What was discovered in 1950

Answer 22

Cytogenetic technique improvements (use of colchicines to arrest cells in metaphase)

Question 23

Showed that human cells have 23 pairs of chromosomes

Answer 23

1956, Tijo & Levan

Question 24

What was discovered in 1960?

Answer 24

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

Question 25

1 nuclear genome = _____ genes

Answer 25

25,000

Question 26

1 mitochondria genome = __ genes

Answer 26

37

Question 27

Peripheral Leukocyte Culture Method Procedures

Answer 27

1. Extract 5 mL venous blood 2. Add phytohemagglutinin & culture medium 3. Culture at 37C for 3 days 4. Add colchicine & hypotonic saline 5. Cells fixed by alcohol 6. Spread cells onto slide by dropping 7. Digest with trypsin and stain with Giemsa 8. Analyze "metaphase spread"

Question 28

Why is Hypotonic Saline used in Peripheral Leukocyte Culture Method?

Answer 28

To make the cell swell (more visible)

Question 29

Technique developed by **Joseph Gall** and **Mary Lou Pardue** in 1960s

Answer 29

In situ hybridization

Question 30

Basic unit of inheritance

Answer 30

Gene

Question 31

Determines the gene

Answer 31

DNA

Question 32

Helps detect whether the gene is present and where it is located

Answer 32

Fluoresence In Situ Hybridization (FISH)

Question 33

Father of Genetics

Answer 33

Gregor Mendel

Question 34

In **1865**, Mendel discovered ______

Answer 34

Paired Factors

Question 35

* Aare inherited * Segregate during gamete formation * Independently sort

Answer 35

Paired Factors

Question 36

In **1902**, **Sutton & Boveri** discovered the _________

Answer 36

Chromosome Theory of Inheritance

Question 37

Chromosomes occur in pairs & are inherited from parents (the paternal & maternal chromosome)

Answer 37

Chromosomal Theory of Inheritance

Question 38

Chromosomes segregate in gamete formation (haploid)

Answer 38

Chromosomal Theory of Inheritance (Not a paired factor but rather dependent on the chromosome)

Question 39

Chromosome pairs segregate independently

Answer 39

Chromosomal Theory of Inheritance

Question 40

First genetic linkage map

Answer 40

Polytene Chromosomes Isolation from Fruit Fly and First Plant Cytogenetics

Question 41

Genetic Linkage Map of Polytene Chromosomes Isolation from Fruit Fly and First Plant Cytogenetics

Answer 41

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 42

Scientists behind Polytene Chromosomes Isolation from Fruit Fly and First Plant Cytogenetics

Answer 42

1. Thomas Hunt Morgan 2. Calvin Bridges 3. Alfred Sturtevant 4. Herman Muller

Question 43

Findings of Polytene Chromosomes Isolation from Fruit Fly and First Plant Cytogenetics

Answer 43

It proved that it is directly linked to your chromosome, which is the gene

Question 44

In 1944, *(DNA/Protein)* and not *(DNA/Protein)* in chromosome is the heredity material (Genetic Transformation Expt.)

Answer 44

DNA ; Protein

Question 45

He discovered the amount of nitrogen base in chromosome

Answer 45

Chargaff (Chargaff's Rule) (1950)

Question 46

Term used for chromosomes crossing arms then it interchanged

Answer 46

Biodiversity / Recombinant

Question 47

Discovered the double helix in 1953

Answer 47

Watson & Crick

Question 48

Discovered the genetic code in protein synthesis in 1961

Answer 48

Crick, Brenner et al.

Question 49

Described the conversion of a non-pathogenic pneumococcal bacteria to a virulent strain.

Answer 49

Frederick Griffith

Question 50

Why did the mouse die when injected with rough strain & heat-killed smooth strain?

Answer 50

Bacterial Transformation: The smooth strain gave its genetic material to rough strain because the heat didn't kill the DNA

Question 51

How did Chargaff discovered the amount of nitrogen base in a chromosome?

Answer 51

The DNA bases were almost equal in numbers. A (29.3) = T (30) C (20) = G (20.7)

Question 52

The key understanding for the double helix model

Answer 52

Rosalind Franklin's Xray Diffraction DNA

Question 53

Studies the RNA

Answer 53

Gene Expression

Question 54

Central Dogma

Answer 54

DNA → RNA → Protein

Question 55

DNA microarrays are used instead of traditional metaphase chromosome preparation

Answer 55

Array CGH

Question 56

First reported the CGH analysis, who utilized CGH in the analysis of **solid tumors**

Answer 56

Kallioniemi and colleagues

Question 57

Array CGH was pioneered by ______ in 1997 using **tumor cells** and _______ in 1998 by the use of **breast cancer cells**

Answer 57

Solinas-Tolodo et al. & Pinkel et al.

Question 58

Term used when there is a missing chromosome

Answer 58

Copy Loss

Question 59

A technique that permits the detection of chromosomal copy number changes without the need for cell culturing. It provides a global overview of chromosomal gains and losses throughout the whole genome of a tumor.

Answer 59

Comparative Genomic Hybridization

Question 60

Term used when there is an increased in chromosome

Answer 60

Copy Gain

Question 61

Extra chromosome in the 21st pair

Answer 61

Trisomy 21 / Down Syndrome

Question 62

Absence of Y chromosome

Answer 62

45, X / Turner Syndrome

Question 63

Extra X chromosomes

Answer 63

47, XXY / Klinefelter Syndrome

Question 64

With a combination of these conventional and molecular techniques, _______ has become an indispensable tool for the diagnosis of various genetic disorders, paving the way for possible treatment and management

Answer 64

Cytogenetics

Question 65

Additional copy of chromosome 13 in some or all of the body's cells

Answer 65

Trisomy 13 / Patau Syndrome

Question 66

Caused by an extra copy of chromosome 18

Answer 66

Trisomy 18 / Edward's Syndrome

Question 67

Causes chronic myeloid leukemia

Answer 67

Philadelphia Chromosome

Question 68

T/F: cells cultured from amniotic fluid could be used to determine the chromosome content of the fetus

Answer 68

true

Question 69

Prenatal diagnosis of common aneuploidies, non-invasive detection of chroma disorders using maternal blood, and studies of mosaicism are included under which importance of cytogenetics?

Answer 69

Pre-natal studies

Question 70

importance of cytogenetics

Answer 70

1. Pre-natal studies 2. human cancer studies 3. detection of subtelomeric aberrations 4. microdeletion syndrome detection

Question 71

which aneuploidies chromosomes cause 95% of chromosomal aberrations causing live-born birth defects ?

Answer 71

chromosome 13, 18, 21, X and Y

Question 72

Modern detection technique of aneuplodies chromosomes is through ?

Answer 72

interphase FISH prenatal diagnosis w/ uncultured amniocutes

Question 73

_______ is a useful and non-invasive method for prenatal diagnosis of chromosomal disorders

Answer 73

Maternal blood cytogenetic analysis of fetal cells by FISH

Question 74

Cell source for non invasive prenatal genetic diagnosis

Answer 74

Fetal nucleated RBC

Question 75

Detection of Specific Translocations and Gene Rearrangements, Analysis of Gains and Losses of Chromosomes or Chromosomal Regions in Tumors, and Testing Deletion of Tumor Suppressor Genes and Amplification of Oncogenes are under what importance of cytogenetics?

Answer 75

Human cancer studies

Question 76

Why is the identification of specific chromosomal translocations and gene rearrangements important

Answer 76

1. determining a therapy plan 2. monitoring treatment 3. predicting prognosis

Question 77

___________ can detect chromosomal translocations in hematologic neoplasms, malignant lymphomas, and solid tumors

Answer 77

Molecular Cytogenetics

Question 78

For patients with chronic myeloid leukemia, it has been shown that ______ is highly sensitive in detecting the BCR/ABL fusion

Answer 78

interphase FISH

Question 79

What is used to detect specific genes in many cases of acute leukemia?

Answer 79

molecular cytogenetics

Question 80

T/F: Almost all types of clinical specimens can be used for CGH studies of tumors

Answer 80

True

Question 81

Through the ________ approach, chromosomal aneuploidies can be detected without cell culturing in any given tissue or cell source

Answer 81

Molecular Cytogenetics interphase FISH

Question 82

T/F: Molecular cytogenetics FISH requires cell culturing to detect chromosomal aneuploidies

Answer 82

False, chromosomal aneuploidies can be detected without cell culturing in any given tissue or cell source

Question 83

Gains or losses of individual chromosomes or chromosome regions is helpful for what?

Answer 83

1. correlation to tumors and its different stages 2. used for prognosis

Question 84

T/F: Deletion of tumor supressor genes and amplification of oncogenes can be detected by FISH or CGH studies

Answer 84

True

Question 85

analysis of genomic alterations using mainly in situ hybridization based technology

Answer 85

Molecular cytogenetics

Question 86

Molecular cytogenetics employ ________ to analyze genomic alterations

Answer 86

in situ hybridization