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Karyotype
Medical Genetics
A Human Karyotype
• Allows any region to be
identified by a descriptive
address (chromosome
number, arm, region, and
band)
System of Naming Chromosome Bands
Add a few
drops of blood.
Add
phytohemagglutinin to
stimulate mitosis.
Draw 10 to 20
ml of blood.
Incubate at 37°C
for 2 to 3 days.
Transfer to tube
containing fixative.
Transfer
cells to
tube.
Add Colcemid to
culture for 1 to 2
hours to stop mitosis
in metaphase.
Centrifuge to
concentrate cells. Add
low-salt solution to
eliminate red
blood cells and
swell lymphocytes.
Drop cells onto
microscope slide.
Examine with
microscope.
Digitized
chromosome
images processed
to make
karyotype.
Stain slide
with Giemsa.
Metaphase Chromosomes (a)
Arranged Into a Karyotype (b)
Constructing and Analyzing Karyotypes
• Different stains and dyes produce banding patterns specific
to each chromosome
• Karyotypes reveal variations in chromosomal structure and
number
• 1959: Discovery that Down syndrome is caused by an extra copy of
chromosome 21
• Chromosome banding and other techniques can identify
small changes in chromosomal structure
Information Obtained from a Karyotype
• Number of chromosomes
• Sex chromosome content
• Presence or absence of individual chromosomes
• Nature and extent of large structural abnormalities
Karyotype Procedure

More Related Content

Human Genetics_Karyotype Procedure.pptx

  • 3. • Allows any region to be identified by a descriptive address (chromosome number, arm, region, and band) System of Naming Chromosome Bands
  • 4. Add a few drops of blood. Add phytohemagglutinin to stimulate mitosis. Draw 10 to 20 ml of blood. Incubate at 37°C for 2 to 3 days. Transfer to tube containing fixative. Transfer cells to tube. Add Colcemid to culture for 1 to 2 hours to stop mitosis in metaphase. Centrifuge to concentrate cells. Add low-salt solution to eliminate red blood cells and swell lymphocytes. Drop cells onto microscope slide. Examine with microscope. Digitized chromosome images processed to make karyotype. Stain slide with Giemsa.
  • 5. Metaphase Chromosomes (a) Arranged Into a Karyotype (b)
  • 6. Constructing and Analyzing Karyotypes • Different stains and dyes produce banding patterns specific to each chromosome • Karyotypes reveal variations in chromosomal structure and number • 1959: Discovery that Down syndrome is caused by an extra copy of chromosome 21 • Chromosome banding and other techniques can identify small changes in chromosomal structure
  • 7. Information Obtained from a Karyotype • Number of chromosomes • Sex chromosome content • Presence or absence of individual chromosomes • Nature and extent of large structural abnormalities