EXERCISE 9

KARYOTYPE ANALYSIS

The human species have a total of 46 chromosomes in their diploid cells which
contain the genes necessary for growth and development. Of the 46 chromosomes
found in the diploid somatic cells, 22 pairs or 44 chromosomes are referred to as
autosomes, chromosomes which carry majority of the hereditary traits. The twenty-
third pair of chromosomes are the sex chromosomes. A normal female has two X
chromosomes while a normal male has one X and one Y chromosome. The X
chromosome is bigger and contains more genes which are said to be X-linked. The Y
chromosome confers maleness but carries fewer genes compared with the X
chromosome.

The chromosomes of man have all been classified according to their size, shape
and location of the centromere. These are numbered in sets from 1 through 22 and X,
Y. The numbered sets have been further categorized with respect to each other and set
up in groups as A, B, C, D, E, F, G and XX or XY.

The karyotype analysis is a very important test in screening for possible genetic
defects resulting from chromosome abnormalities. It is done by cutting chromosomes
out of an enlarged photograph of a metaphase smear and categorizing them into the
different groups. The resulting karyotype is then compared with the karyotype of a
normal individual and abnormalities in the chromosomes are then noted.

Materials:

Photograph of metaphase smears of human chromosomes

Human Chromosome Analysis sheets
Pair of scissors
Paste.

Procedure:

Each group will work on the seven cases that will be given. Each karyotype will
be constructed based on the following procedure.

1. Cut out the individual chromosomes from the given photograph of the
metaphase smear for each case. Make sure that the chromosomes from one
case are not mixed with the chromosomes from another case.
2. Paste the individual chromosomes in the given karyotype analysis sheet for
each case. Use the given karyotype of a normal individual as basis for
identifying and classifying the chromosomes into the different groups.

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3. After cutting and pasting the chromosomes from each of the seven
metaphase smears, the group will then identify the chromosomal abnormality
in each case and answer the following questions.
a. What type of chromosomal abnormality is manifested in the karyotype?
b. What is the sex of the individual?
c. Identify and discuss possible causes of the chromosomal abnormality.
d. Discuss the possible consequences/manifestations of the abnormal
chromosome condition found in the karyotype. Based on these
consequence(s), manifestation(s), would you advise the individual to have
progeny? Briefly explain your answer.

The group assigned to this activity will report to the class during the post-lab
discussion.