(M) Cytogenic techniques (manual based) Flashcards
study of the physical size and structure of chromosomes
cytogenetics
A specialized laboratory discipline that examines the structure and behavior of chromosomes at the cellular level
cytogenetics
Which phase is the best for studying the physical characteristics of chromosomes
cell cultures that are halted near metaphase
why are cell cultures halted near metaphase the best for studying the physical characteristics of chromosomes
chromosomes are most compact
what are the chromosomes stained in the form of?
(cell cultures haltd near metaphase)
dyads or bivalent
study of ______ _______ ______ and number can be vital for understanding a variety of genetic abnormalities that are produced by mutations that alter chromosomes
normal chromosome structure
What are the two techniques used to visualize chromosome changes
- classical / standard cytogenic method
- Fluorescent in situ hybridization (FISH)
this method allows visualization of loss or gain of genetic material that contains at least 4 megabases of DNA
classical / standard cytogenic method
DNA needs to contain at least how many bases for standard cytogenetic method?
4 megabases
This is the gold standard in providing a whole genome scan
standard cytogenic method
What does classical cytogenetics require
viable, nucleated cells in cell cycle
how long are the nucleated cells cultured for classical cytogenetics?
one day to two or more weeks
T or F
All abnormalities can be detected using the classical cytogenetic technique as it has the best microscopic resolutions
F ( certain abnormalities may not be detected due to limitations in microscopic resolutions)
This visualization method allows much smaller changes in chromosomes to be seen
Fluorescent in situ hybridization (FISH)
What is the principal molecular technique currently used in the clinical lab?
Fluorescent in situ hybridization
What is the other name for FISH?
molecular cytogenetics
What was FISH originally developed for?
to enhance the resolution of chromosome observation
This is the complete set of chromosomes in the cells of an organism
Karyotype
how many somatic pairs of chromosomes do we have
22 pairs
how many pairs of chromosome do humans have in total?
23
how many pairs of sex chromosomes do we have?
one pair
T or F
Changes in karyotype is indifferent with the changes of the phenotype of the individual
F (it is correlated with the changes)
how are the different types of chromosomes distinguished?
using dyes
What do dark bands represent
heterochromatins
T or F
heterochromatins are rich in protein-encoding genes
F (have few protein-encoding genes)
What do you call the light bands / staining
euchromatins
what do euchromatins contain
active genes
how are chromosomes identified
(3)
- based on their length
- banding patterns
- location of centromere
how are chromosomes arranged in a karyotype
from largest to smallest, followed by sex chromosomes
A routine specimen for most cytogenetic studies of adults and children
heparinized peripheral blood
how is heparinized peripheral blood sample obtained?
standard phlebotomy technique
what is the handling and transport condition for heparinized peripheral blood smear?
room temp
used for studying hematologic disorders as the sample is the origin of the disease
bone marrow aspirates
what is the handling and transport condition for bone marrow aspirates
room temp
used for fibroblast cultures
skin biopsies
what is the handling and transport condition for skin biopsies
ice
These specimens are not routine, and are obtained after death or fetal loss
tissues like
* kidney
* liver
* muscle
* lung
what is the handling and transport condition for kidney, liver, muscle, and lung
ice
two samples used for prenatal analysis
amniotic fluid
chorionic villus
what is the handling and transport condition for amniotic fluid
room temp
what the handling and transport condition for chorionic villus
room temp
where is chorionic villus extracted from?
developing placenta
This sample is used for rapid karyotyping
fetal blood from umbilical cord
what is the handling and transport condition for fetal blood
room temp