GENETICS LABORATORY

Activity 7
KARYOTYPING

Introduction

Occasionally chromosomal material is lost or rearranged during the formation of

gametes or during cell division of the early embryo. Such changes, primarily the result of
nondisjunction or translocation, are so severe that the pregnancy ends in miscarriage or
fertilization does not occur at all. It is estimated that one in 156 live births have some kind of
chromosomal abnormality.

Some of the abnormalities associated with chromosome structure and number can be
detected by a test called a karyotype. A karyotype can show prospective parents whether they
have certain abnormalities that could be passed on to their offspring, or it may be used to learn
the cause of a child’s disability. Karyotypes can also reveal the gender of a fetus or test for
certain defects through examination of cells from uterine fluid – a procedure called
amniocentesis – or through sampling of placental membranes.

To create a karyotype, chromosomes from a cell are stained and photographed. The
photograph is enlarged and cut up into individual chromosomes. The homologous pairs are
identified and arranged in order by size (with the exception of the sex chromosomes; these
appear last). These tests are typically done on a sample of blood, although anybody cell could
be used. The cell must be undergoing mitosis – preferably in metaphase so that the
chromosomes are replicated, condensed, and visible under a microscope.

Objectives

At the end of the activity, the students are expected to:

1. understand what a karyotype is and how it is performed;
2. understand the reason for performing a karyotype, especially for those with a higher risk
of genetic defect in their lineage;
3. to determine what genetic defect is present in a chromosome sample;
4. to investigate a variety of genetic disorders that commonly occur and are studied in
biology classes.
Materials:
Scissors tape/glue
ruler

Procedure:

1. Using the attached sheets, complete four different karyotypes: One normal male, One
normal female and four different disorders.
2. Cut the chromosomes on the sheet marked Karyotype (normal) using scissors. Once the
chromosomes have been cut out, place them on a sheet of white paper so you don’t lose
them on the dark benchtop.
3. Using Fig. 1 as a guide, arrange each chromosome on the blank karyotype form. Do not
fasten the chromosomes to the karyotype form until your instructor has checked it. Keep
all paper scraps until you have identified each chromosome. The chromosomes can be
arranged in seven groups (A-G) according to length and position of the centromere.

GROUP CHARACTERISTICS
A The A group consists of six longest chromosomes;
centromeres in center
B The B group consists of four long chromosomes with
centromeres away from center
C The C group consists of 14 medium-length chromosomes
with the centromeres slightly off-center.
The female sex chromosome (X chromosome) also falls in
this group. Therefore, a male will have 15
C-Iength chromosomes and a female will have 16.
D The D group consists of six chromosomes slightly smaller
than the C's with the centromeres very near to one end.
E The E group resembles the C group but the chromosomes
are much smaller.
F The F-group chromosomes are very small with the
centromeres in the middle.
G The G group includes the four smallest chromosomes with
the centromeres so close to the ends that it is difficult to see
any short arms at all. The male sex chromosome (Y
chromosome) falls into the G group. Therefore a male will
have five G-Iength chromosomes and a female four.

4. Once you are sure that Karyotype (normal) is complete and correct, use the tape to
secure the chromosomes to the Karyotype Form and complete the form.

5. Repeat this process with Karyotype A, B, C, D. When you are finished, you will have two
normal human karyotypes (male and female) that you will use as guides when completing
your case studies.
References

Carr SM and Ines DJ. 2003. Biology 2250 Principles of Genetics. Memorial University,
Canada.
Hartwell L, Hood L, Goldberg ML, Reynolds AE, Silver LM and Veres R. 2000. Genetics
from genes to genomes. USA: Mc Graw Hill Publishing Company.
Laude RP, Barrion AA, Mendioro MS, Diaz MQ, Bebing NN and Ramirez DA. 1997.
Genetics Laboratory Manual, 8 th Revision. San Pablo City, Laguna Philippines:
7 Lakes Printing Press.
http://www.slic.wsu.edu/bios/biol107/107Karyotypesp05.pdf
 GENETICS LABORATORY

Activity 7
KARYOTYPING

WORKSHEET

Name___________________________________________Score________________________
Group Number____________________________________Date________________________

1. How would you determine if your karyotype was male or female?

________________________________________________________________
________________________________________________________________
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2. Describe each type of the chromosome based on the position of centromere.
a. Metacentric____________________________________________________
b. Submetacentric_________________________________________________

c. Acrocentric____________________________________________________
d. Telocentric____________________________________________________

3. Give importance of karyotyping

________________________________________________________________
________________________________________________________________
________________________________________________________________
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