Unit 1 - Intro to Cyto Flashcards
branch of genetics that studies the structure of DNA within the cell nucleus
Cytogenetics
studies the number and morphology of chromosomes
Cytogenetics
2 types of cytogenetics based on techniques
classical cytogenetics
molecular cytogenetics
chromosome banding techniques
a. classical cytogenetics
b. molecular cytogenetics
classical cytogenetics
hybridization fluorescently labeled probes
a. classical cytogenetics
b. molecular cytogenetics
molecular cytogenetics
How are chromosomes arranged?
largest to smallest
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?
Robert Hooke (1635-1703)
Who published microscopic anatomy of plants and advanced a theory that the stamen corresponds to male, while pistil corresponds to female reproductive organ?
Nehemiah Grew (1628- 1711)
Who improved the microscope by the technique of grinding the lens?
Anthony van Leeuwenhoek (1632-1723)
Who reported the studies on free cells such as protozoa and bacteria and thus opened the door to a new world of microorganisms?
Anthony van Leeuwenhoek
Who showed the presence of sex in plants?
Rudolf Jacob Camerarius (1665- 1721)
Who demonstrated that in maize, seeds are not produced unless pollen is applied to the pistil?
Rudolf Jacob Camerarius
Who published the information on his work of plant hybridization?
Joseph Gottlieb Kolreuter (1733-1806)
Who concluded that pollen is the male element, while pistil is the female element?
Rudolf Jacob Camerarius
Who made hybrids between different varieties of tobacco and between some plant genera?
Joseph Gottlieb Kolreuter (1733- 1806)
Joseph Gottlieb Kolreuter (1733- 1806) used ________ ___________ to show the equal contribution of male and female parents to their offspring.
reciprocal crosses
Who proposed a theory of evolution known as theory of inheritance of acquired characters?
Jean Baptiste Lamarck (1744-1829)
According to Jean Lamarck, variation in an individual is brought about by?
(a) conscious effort
(b) reaction to environment
(c) use and disuse of the organ
According to Jean Lamarck, ________ carries forward the changes that are acquired during the life time of the individual.
heredity
Robert Brown (1773-1858) studied plant cells and discovered _________ in __________ (what book?).
nucleus
Tradescantia
central feature of living cells as described by Robert Brown
nucleus
Who described cell division and showed that cells arise through partition walls formed between preexisting cells?
Hugo von Mohl (1805-1872)
Matthias Jacob Schleiden (1804-1881) and Theodor Schwann (1810-1882) put forth the cell theory on the basis of accumulated experimental results, which are?
- The cell is the smallest structural element of a multicellular organism.
- Every cell has a specific function to perform.
- A cell can only be produced from another cell by cell division.
Who first discovered chromosomes in pollen?
Karl Nägeli
Who introduced aniline staining to observe chromosomes during cell division?
Walther Flemming
Waldeyer coined the term “____________” after staining techniques had been developed
chromosome
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.
48
discovered by Anthony van Leeuwenhoek (means microscopic organisms)
animalcules
Jean Baptiste Lamarck is a contemporary of?
Charles Darwin
Aniline staining is derived from?
coal tar
Aniline stains:
acidic or basic structures?
acidic
Which part of nucleic acids is stained by aniline?
phosphate group
DNA
a. acidophilic, acidic
b. acidophilic, basic
c. basophilic, acidic
d. basophilic, basic
c. basophilic, acidic
What did Theophilus Painter discover in human chromosomes
sex-determination genes X and Y
Greek word:
chroma - ________
soma - ________
chroma - colored
soma - body
“colored body”
Cytogenetic technique improvements (use of __________ to arrest cells in __________)
colchicines
metaphase
Tjio and Levan showed that human cells have ____ pairs of chromosomes
23
culture method of Moorehead et al. that was adopted by many cytogeneticists
peripheral leukocyte culture method
(lymphocyte for nucleus differentiation)
Colchicine interferes with the normal function of __________
microtubules
In Karyotyping:
After the blood is cultured, colchicine and hypotonic saline are added, cells are fixed onto slide, digested with ________ and stained with _________.
trypsin
giemsa
amount of blood collected for karyotyping
5 mL venous blood
Blood for Karyotyping:
culture at what temperature
for _____ days
37C
3 days
techniques initially developed by Joseph Gall and Mary Lou Pardue in 1960s
In situ hybridization techniques
In 1865, Mendel discovered “paired factors”:
3 tenets of Mendel’s Law
- “paired factors” are inherited
- “paired factors” segregate during gamete formation
- “paired factors” independently sort
1902,Sutton & Boveri discovered the Chromosome theory of inheritance:
3 tenets of Chromosomal Theory of inheritance
- Chromosomes occur in pairs & are inherited from parents
- Chromosomes segregate in gamete formation (haploid)
- Chromosome pairs segregate independently
First genetic linkage map, polytene chromosomes isolation from ________ _______ and first plant cytogenetics.
fruit flies
T/F:
Linkage maps are a Mendelian principle
false
T/F:
Linked genes do not detach
true
Polytene chromosomes were first discovered in _________ (Balbiani 1881)
insects (fruit flies)
(Drosophila larval salivary glands)
Who made the first genetic linkage map from fruit fly?
Morgan, Sturtevant, Bridges, and Muller
Who pioneered plant cytogenetics in 1920?
Cyril Darlington
part of the chromosome that is the heredity material
DNA
Chargaff discovered the amount of _________ ________ in chromosome;
what do you call this rule?
nitrogen base
Chargaff’s rule
Discovery made by Watson and Crick
double helix
Discovery of _________ ________ in protein synthesis (Crick, Brenner et al., 1961)
genetic code
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
DNA microarrays
What condition:
an extra copy of chromosome 21 (trisomy 21)
Down syndrome
What condition:
individuals have a single X chromosome (45, X) instead of the typical XX or XY
Turner syndrome
What condition:
an extra X chromosome in males
47, XXY
Klinefelter syndrome
What condition:
an extra copy of chromosome 13 (trisomy 13)
Patau syndrome
What condition:
an extra copy of chromosome 18 (trisomy 18)
Edwards syndrome
a specific chromosomal abnormality associated with chronic myeloid leukemia (CML)
Philadelphia chromosome
The Philadelphia chromosome results from a translocation between chromosomes ___ and ___
9 and 22
(translocation that can cause cancer)
cells cultured from _________ (what sample?) could be used to determine the chromosome content of the fetus
amniotic fluid
a molecular cytogenetic technique used to analyze and compare the DNA copy number variations between two genomes
Comparative Genomic Hybridization (CGH)
term used for chromosomal abnormalities characterized by an abnormal number of chromosomes in a cell
aneuploidies
In prenatal studies, chromosomal disorders non-invasive detection uses what sample?
Maternal Blood
In Prenatal Diagnosis of the Common Aneuploidies, 95% of the chromosomal aberrations causing live-born birth defects are which Aneuploidies chromosomes?
13, 18, 21, X, and Y
In Prenatal Diagnosis of the Common Aneuploidies, modern detection technique is through _____________ with uncultured _________. (Klinger et al, 1992,Ballif et al, 2000).
interphase FISH prenatal diagnosis
amniocytes
In Chromosomal Disorders Non-invasive Detection, _____________ analysis of fetal cells by FISH is a useful method for prenatal diagnosis of chromosomal disorders.
Maternal Blood Cytogenetic
In Chromosomal Disorders Non-invasive Detection, fetal nucleated
_________ which pass into the maternal circulation provide a cell source for noninvasive prenatal genetic diagnosis)
RBCs
T/F:
The identification of specific chromosomal translocations and gene rearrangements is important for determining a therapy plan, monitoring treatment, and predicting prognosis.
True
can detect chromosomal translocations in hematologic neoplasms, malignant lymphomas, and solid tumors have been identified
molecular cytogenetics
For patients with chronic myeloid leukemia, it has been shown that _________ _______ is highly sensitive in detecting the BCR/ABL fusion (Dewald et al, 1998).
interphase FISH
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).
Molecular Cytogenetics
In the Detection of Specific Translocations and Gene Rearrangements, _____ _______ for several rearranged genes in non-Hodgkin lymphomas are now commercially available.
FISH probes
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.
false
without cell culturing
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.
true
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).
true
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.
true
the analysis of genomic alterations using mainly in situ hybridization based technology
molecular cytogenetics
