Question Based Discussion 3

Ilma Syifannisa
113170037
 Cytogenetic Examination
The clinical cytogenetics is the study
ofnchromosomes, their structure and their
inheritance applied to the practice of medical
genetics.
 delay of
physical

Delay of
Anomalies
Chromosomal mental
of systems
Abnomalities development
and organs.
in general

some
anomalies
of face
 a blood,
bone
marrow, or
skin sample
from an
adult
the cells are treated
mixed with plant-
with a drug called
Samples derived chemicals called
colchicine to stop the
lectins that stimulate
mitotic process at
mitosis.
metaphase

The cells are placed in a

a sample of amniotic
fluid (which contains
stray cells) or extra-
embryonic cells
(from the chorionic
villi) from an unborn
child.
the cells are fixed to a
hypotonic solution to
microscope slide,
increase the size of the
stained and then
cell so the chromosome
photographed.
will spread out
 Analysis
• (1) the length of the
arms of the
chromosome; a
pattern that is
established by the
position of the
centromere along
the arms,
• (2) shape and
• (3) general
appearance of the
chromosome, such
as size and
placement of bands.
Klinefelter’s Syndrome
FLUORESCENCE IN SITU HYBRIDIZATION
 LOCUS
SPESIFIC

FISH

CENROMERE
AND
TELOMERE
• In breast cancer patients, for example, a FISH test on
breast cancer tissue removed during a biopsy can
show whether the cells have extra copies of the
HER2 gene.
PCR
 Agarose gel Limitation
• * Poor precision
• * Low sensitivity
• * Short dynamic range < 2 logs
• * Low resolution
• * Non-automated
• * Size-based discrimination only
• * Results are not expressed as numbers
• * Ethidium bromide staining is not very
quantitative
 qPCR advantages
• amplification can be monitored real-time
• no post-PCR processing of products
– (high throughput, low contamination risk)
• ultra-rapid cycling (30 minutes to 2 hours)