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pre dominant protein in the body/cells
histones
what are the parts of a chromosomes
metaphase, anaphase, telophase
what are the types of chromosomes
metacentric, submetacentric, acrocentric, telocentric
we have __ haploids
23
how many X,Y chromosome in total
46
what are the mutations
nonsense, insertion, deletion, frameshift
ideal, correct
centromere is located in the middle of chromosome p and q arm are almost equal in length
metacentric
centromere is off center, one are is longer than the other
submetacentric
centromere is very close to one end of chromosome, making one arm extremely short and the other very long
acrocentric
centromere is located at the very end of chromosome , so only one arm is visible, and the other is essentially missing
telocentric
visualization of chromosome
g banding
q banding
r banding
c banding
most common used. produces characteristic dark and light bands
g banding
flourescent dye. useful for highlighting the y chromosome
q banding
reverse or g banding ; highlights gene-rich areas (gc regions)
r banding
specifically stains centromeric heterochromatin
c banding
stain used in g banding
giemsa stain (after trypsin treatment)
stain in q banding
quinacrine dye
stain in r banding
giemsa (after heat treatment at 87c)
stain for c banding
giemsa (after alkali treatment)
most common type to identify polymorphisms or mutations during analysis
karyotyping
in karyotyping process usually takes about ____
2-3 days
process of cell division by arresting the cells at metaphase
colcemid
what are the detailed karyotyping procedure
sample collection
cell culture
cell division monitoring
hypotonic treatment
fixation
slide preparation
staining
microscopic and computer analysis
source and common source in sample collection
source: blood or tissue cells
common sources: white blood cells, skin cells, amniotic fluid
obtain live cells from analysis
sample collection
induce cells to undergo cell division to make chromosomes visible
cell culture
cell should be cultured for____
2-3 days
in cell division monitoring the _____ is the most critical phase
metaphase
what should u add to prevent spindle fiber formation
colcemid
after stopping cell division, cells are treated with a ________ usually_____
hypotonic solution, potassium chloride
preserve the chromosomes and prevent degredation
fixation
reagent used in fixation
____ preserves the structure of the chromosomes
methanol
reagent used in fixation
______ stabilizes chromosomes and maintains their integrity for further analysis
salicylic acid
prepare the cells for observation
slide preparation
stains the chromosomes to reveal banding patterns that allow us to identify structural abnormalities
staining
chromosomes are examined under microscope to identify their structure, number and any abnormalities
microscope use
advanced programs are used to pair chromosomes, analyze banding patterns and detect abnormalities
computer software
extra chromosomes
trisomy
missing parts of chromosome
deletions
extra genetic material
insertions
rearranged chromosome parts
translocation
paints entire chromosome
WCP (whole chromosome painting)
binds to centromere
CEP (centromere probe)
binds specific genes
LSI (locus-specific identifier)
detects translation
wcp
detects aneuploidy
cep
detects deletions/duplications
LSI
this is a type of chromosomal identification technique where we use a comparative control dna
comparative genomic hybridization
during the hybridization process, if both match perfectly, the resulting color will be ____^
yellow
more green =
deletion
more red =
insertion/addition
CGH is always paired with_____
FISH