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Who first observed chromosomes and when
Walther Fleming in 1882
Where were chromosomes first observed
In tumor cells
Why were chromosomes first observed in tumor cells
Because in tumor the cells divide fast and the mass or tumor grows fast due to multiplying cells
What does actively dividing cells mean
We could see a lot of active nuclei
How many chromosomes do eukaryotes have
More than one
What is the shape of eukaryotic chromosomes
Linear rather than circular
Where are eukaryotic chromosomes located
Sequestered within a nucleus
What are eukaryotic chromosomes composed of
DNA and globular proteins (histones)
What are nucleosomes
10 nm diameter beads
What is chromatin
30 nm diameter, a very thin material
What are active genes in chromosomes called
Euchromatin
What is inactive DNA in chromosomes called
Heterochromatin
How many chromosomes do humans have
46 (44 autosomes; 2 sex chromosomes)
How many chromosomes does a fruit fly have
8 (2x)
How many chromosomes does a kingfisher have
132 (2x)
How many chromosomes does tobacco have
48 (4x)
How many chromosomes does an adder’s tongue fern have
1260 (2x)
Where is extranuclear DNA found in eukaryotes
Mitochondria, chloroplasts
What is the shape of extranuclear DNA
Circular
What does extranuclear DNA code for
5% RNA and polypeptides (nonfunctional) required for the organelle replication and function
Where are plasmids found
Fungi and protozoa
What plasmid is present in S. cerevisiae
70 copies of a plasmid (2μm circle)
What is a prokaryotic chromosome
A single molecule of DNA in the form of a closed loop
Give an example of a prokaryote with both linear and circular DNA
Agrobacterium tumefaciens = 1 linear, 1 circular
Give an example of a prokaryote with two circular chromosomes
Vibrio cholerae = 2 circular
What is the bacterial chromosome
Circular molecule of DNA associated with proteins and RNA
Where is the prokaryotic chromosome located
Nucleoid
How are prokaryotic chromosomes folded
Into loops that are 50,000 – 100,000 bp
What are plasmids
Small, circular molecules of DNA
What is the size range of plasmids
Few thousand bp to million bp
What information do plasmids carry
Required for replication, cellular traits
What are fertility (F) factors
Plasmids for conjugation and transfer of genes
What are resistance (R) factors
Plasmids that carry genes for resistance to one or more antimicrobial drugs, heavy metals, or toxins
What are bacteriocin factors
Plasmids that carry genes for proteinaceous toxins (bacteriocin)
What are virulence plasmids
Plasmids that make microorganisms pathogenic and cause disease when they enter the human body
What is a telomere
The ends of the chromosomes
What is a centromere
The primary constriction of the chromosomes; divides the chromosome into a short arm (p) and a long arm (q)
What is a chromatid
A single molecule of DNA
How are chromosomes classified
By size and position of centromere
What is a metacentric chromosome
A chromosome with the centromere in the middle
What is a submetacentric chromosome
A chromosome where the centromere divides it into 1/3 and 2/3
What is an acrocentric chromosome
A chromosome with the centromere near the end
What is the rule for placing the chromosome arms
P arm is always placed upwards, Q arm is always placed downwards
Who are cytogeneticists
Scientists who recognize and identify gross chromosomal abnormalities by examining chromosomes through a microscope
What three things do cytogeneticists use to tell chromosomes apart
Chromosome size, the position of the centromere, characteristic banding patterns of alternating light and dark bands (caused by staining with dyes)
What is a normal male karyotype
46, XY
What is a normal female karyotype
46, XX
What dye is often used in the “classic” karyotype
Giemsa (G-banding)
What dye is less frequently used in karyotyping
Quinacrine
What does Giemsa bind to
Phosphate groups of DNA
What does Quinacrine bind to
Adenine-thymine rich regions
What helps identify chromosomes
Each chromosome has a characteristic banding pattern; both chromosomes in a pair have the same banding pattern
How are karyotypes arranged
With the short arm on top and the long arm on the bottom
What is the short arm of the chromosome called
P arm
What is the long arm of the chromosome called
Q arm
How are stained regions and sub-regions numbered
From proximal to distal on the chromosome arms
What is spectral karyotyping
A molecular cytogenetic technique used to simultaneously visualize all pairs of chromosomes in different colors
How are fluorescently labeled probes made
By labeling chromosome-specific DNA with different fluorophores
Why is combinatorial labeling used
Because there are a limited number of spectrally-distinct fluorophores, it generates many different colors
What instrument captures spectral differences
An interferometer attached to a fluorescence microscope
What assigns pseudo colors to each chromosome
Image processing software
What is the disadvantage of using more colors
The more colors used, the more expensive it will be
What is digital karyotyping
A technique used to quantify DNA copy number on a genomic scale
How is digital karyotyping done
By isolating and enumerating short sequences of DNA from specific loci across the genome
What is another name for digital karyotyping
Virtual karyotyping