Human Karyotyping

Human Karyotyping
Lab
2 Human Karyotyping Lab
Name: Airon Matthew F. Bantillo Date of lab: September 29, 2022

Lab partners: Acuna, Arriola, Dela Cruz JB, Due date of lab: Octorber 7, 2022
Dela Cruz Skyle, Maat, Puzon, Roque
Background: 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 has 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. Over 400,000 karyotype analyses are performed each
year in the U.S. and Canada.
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
any body 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.
(adapted from: http://www.slic.wsu.edu/bios/biol107/107Karyotypesp05.pdf)
Purpose: The purpose of this laboratory experience is:

-understand what a karyotype is and how it is performed.
-understand the reason for performing a karyotype, especially for those with a higher risk of genetic defect in their
lineage.
-to determine what genetic defect is present in a chromosome sample.
-to investigate a variety of genetic disorders that commonly occur and are studied in biology classes.
Materials: The following materials are needed to perform this laboratory experience:
-Scissors -tape
-ruler -small envelope
Procedure: The following procedure is utilized to perform this laboratory experience:

1. Using the attached sheets, complete four different karyotypes: One normal male, One normal female, two
different disorders of your choice out of the four. Additional laboratory minutes may be granted for work
above and beyond the four required karyotypes.
2. Working slowly and carefully, using scissors cut out the chromosome on one page labeled “1” and find its’ EXACT
match elsewhere on the page (it will not be numbered). Cut out this chromosome and tape BOTH chromosomes
side by side on a “data page” that has the heading filled out.
3. Continue this procedure until you have matched all chromosomes and taped each of them in the corresponding
place on the data page.
4. If you are caught short of time, use the coin envelope to store any chromosomes you may have clipped out and
not matched. DO NOT CUT OUT ALL CHROMOSOMES AND THEN ATTEMPT TO MATCH THEM!!! Cut out
only one at a time or you will lose chromosomes.
5. In the event that you have an extra chromosome, DO NOT THROW IT OUT! It is the chromosome that causes
your mutation/disorder and you must match it correctly.
6. Once your chromosomes are all cut out and included in the karyotypes, answer the questions and complete the
lab.

Questions: Answer the following questions before turning in your lab.
1. What four karyotypes did you choose to complete?
The researchers had chosen 4 sets of karyotypes which have randomly placed
chromosome pairs.
Figure 1: Chromosome pair sets

The 4 sets are named as A,B,C,D/1,2,3,4. All 4 karyotype sets are abnormal or mutated due
to an extra chromosome pair(All sets have 47 chromosomes). 3 of the karyotypes are
classified by the researchers as a case of trisomy and the remaining set is classified as a
case of an extra X chromosome. The following is the list of sets and the cases classified by
the researchers:
SET A- DOWN SYNDROME (TRISOMY-15). AN EXTRA CHROMOSOME IS INSERTED AT PAIR

#15 WHICH CAUSED A MUTATION (TEST SUBJECT: HUMAN, MALE).
SET B- KLINEFELTER SYNDROME (XXY). AN EXTRA X CHROMOSOME IS ADDED AT THE

23RD PAIR (TEST SUBJECT: HUMAN, MALE).
SET C- EDWARD'S SYNDROME (TRISOMY-18). AN EXTRA CHROMOSOME IS INSERTED AT

PAIR #18 WHICH CAUSED A MUTATION (TEST SUBJECT: HUMAN, FEMALE)
SET D- PRADER-WILLI DISORDER/SYNDROME (TRISOMY-15). AN EXTRA CHROMOSOME IS

INSERTED AT PAIR #18 WHICH CAUSED A MUTATION (TEST SUBJECT: HUMAN, MALE)

Questions: Answer the following questions before

turning in your lab.
2. How could you determine if your karyotype was male or female?
The researchers determined the karyotype's sex by looking at the 23rd

pair. The test subject is a male if its karyotype has X and Y chromosomes
(XY) as its final pair (the 23rd pair is referred to as the last pair because
in some cases, there are disorders where the patient's karyotype has 45
chromosomes and there are cases where only 22 pairs of chromosomes
exist. These disorders are called Turner syndrome or monosomy X and
DiGeorge syndrome or deletion syndrome). The test subject is determined
as a female if its karyotype has X and X chromosomes (XY) as its final
pair.
3. Complete the following table:
Karyotype #1 Karyotype #2
Individual is a Individual is a
HUMAN
___________________ HUMAN
____________________
_ Number of chromosomes:
Number of chromosomes: 47
_______
47
_______

What is the sex?
What is the sex? MALE(XY)

________________
MALE(XY)
________________
Normal or Mutated (circle one)
Normal or Mutated (circle one) If mutated, name the disorder
If mutated, name the disorder below: Klinefelter syndrome
below: Down syndrome (Trisomy (X,X,Y)
21)
Karyotype #3 Karyotype #4
Individual is a Individual is a
HUMAN
____________________ HUMAN
____________________
Number of chromosomes: Number of chromosomes:
47
_______ 47
_______
What is the sex?
What is the sex?
FEMALE(XX)
________________ MALE(XY)
________________
Normal or Mutated (circle one) Normal or Mutated (circle one)

If mutated, name the disorder If mutated, name the disorder
below: Edward's syndrome below: Prader-Willi
(Trisomy-18) Disorder/syndrome (Trisomy-15)
SET A
TRISOMY-21
(DOWN SYNDROME)
XXY
(KLINEFELTER SYNDROME)
TRISOMY-18
(EDWARD'S SYNDROME)
TRISOMY-15
(PRADER-WILLI SYNDROME)

Human Karyotyping

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Human Karyotyping

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Human Karyotyping

Name: Airon Matthew F. Bantillo Date of lab: September 29, 2022

(adapted from: http://www.slic.wsu.edu/bios/biol107/107Karyotypesp05.pdf)

Purpose: The purpose of this laboratory experience is:

Procedure: The following procedure is utilized to perform this laboratory experience:

Name: Airon Matthew F. Bantillo Date of lab: September 29, 2022

Questions: Answer the following questions before turning in your lab.

1. What four karyotypes did you choose to complete?

Figure 1: Chromosome pair sets

SET A- DOWN SYNDROME (TRISOMY-15). AN EXTRA CHROMOSOME IS INSERTED AT PAIR

SET B- KLINEFELTER SYNDROME (XXY). AN EXTRA X CHROMOSOME IS ADDED AT THE

SET C- EDWARD'S SYNDROME (TRISOMY-18). AN EXTRA CHROMOSOME IS INSERTED AT

SET D- PRADER-WILLI DISORDER/SYNDROME (TRISOMY-15). AN EXTRA CHROMOSOME IS

Name: Airon Matthew F. Bantillo Date of lab: September 29, 2022

Questions: Answer the following questions before

2. How could you determine if your karyotype was male or female?

The researchers determined the karyotype's sex by looking at the 23rd

3. Complete the following table:

What is the sex? MALE(XY)

Normal or Mutated (circle one) Normal or Mutated (circle one)

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