Academia Interamericana de Panamá Sede Cerro Viento

Science

Human Karyotype Lab

Creating a Karyotype: Chromosome Study

Alan Cedeño #5
Luz Corrales #6
Juan Pablo Ponton #17

8°A

Anela Gough

September 20, 2022

Introduction
In this lab we are going to talk about karyotype.
First of all, what is a karyotype? A karyotype is an individual’s complete set of
chromosomes. The term also refers to a laboratory-produced image of a person’s
chromosomes isolated from an individual cell and arranged in numerical order. A karyotype
may be used to look for abnormalities in chromosome number or structure.
In short words, a karyotype is the arranged of chromosomes.
The karyotype is one of each species' characteristics. To make a karyotype, scientists take a
picture of the chromosomes from one cell, cut them out, and arrange them using size, banding
pattern, and centromere positions as guides.
Karyotype describes the amount of chromosome count and morphology of an organism under
the light microscope. The derivation and study of karyotypes is part of cytogenetic studies.
The autosomal chromosomes are present in two copies.
Karyotypes can be used for many things, such as studies of chromosomal iterations in
prenatal diagnostics or tumor studies. Also, to understand cellular function, taxonomic
relationships, and providing information about past evolutionary events.
The typical human karyotype contains 22 pairs of autosomal chromosomes and one pair of
sex chromosomes. The most common karyotypes for a female contain two X chromosomes
and are denoted for the sex XX. Males usually have both an X and a Y chromosome, denoted
for the sex XY.
Chromosomes were first observed in plant cells by Carl Wilhelm von Nagely in 1842. Their
behavior in animal cells was described by Walther Flemming, also the discoverer of mitosis
in 1882.
The next stage took place after the development of genetics in the early 20th century, when it
was appreciated that chromosomes were the carrier of genes. Lev Delaunay in 1922 seems to
have been the first person to define the karyotype as the phenotypic appearance of the
somatic chromosomes. The karyotype´s history can be followed in the works of C. D.
Darlington and Michael JD White.
Investigation into the human karyotype took many years to settle the most basic question:
how many chromosomes does a normal diploid human cell contain? In 1912, Hans von Wini
Warter reported 47 chromosomes in a normal human. Other people said a human karyotype
have 46 or 48 chromosomes, but the technology of that time did not help to discover which of
them was correct.
Finally, Joe Hin Tijo found the chromosome count to be 46 using new techniques available at
the time:
- Using cells in tissue culture
- Pretreating cells in a hypotonic solution, which swells them and spreads the chromosomes
- Arresting mitosis in metaphase by a solution of colchicine
- Squashing the preparation on the slide forcing the chromosomes into a single plane
- Cutting up a photomicrograph and arranging the result into an indisputable karyogram.
The work took place in 1955 and was published in 1956. The karyotype of humans includes
only 46 chromosomes.
Nowadays, it is easier to see a human karyotype and his characteristics.

Objective
 Learn what a karyotype is.
 Prepare a karyotype of a human's chromosomes.
 Analyze the karyotype to determine sex and the possibility of birth defects.

Materials
 scissors
 tape or glue stick

Procedure
1. The figure on the back of this page is a representation of G-banded chromosomes (only 1
chromosome from each chromosome pair is represented).
2. Cut out the chromosomes from the chromosome "spread" and match them to the
chromosomes shown on this page to identify the correct chromosome number. Match them
using size, length of the arms, and the location of the centromere.
3. Match homologous pairs together and then tape them down on the blank piece of white
paper in the correct order. Be sure to number each pair.
4. Note that the "X" chromosome has a single thick band on its upper end and four bands on
its lower end. The "Y" chromosome is very small and has a single thick band on the tips of its
arms at one end.

Result
Pre-Lab Questions; Summarize how a karyotype is made in 5 major steps.
 1. Cells from a human are frozen in metaphase of mitosis.
2. The cells are broken open in order to remove the chromosomes.
3. The “metaphase spread” produced by a single cell is photographed.
4. The photographed can be cut and homologous chromosomes arranged in pairs
according to size, location and length.
5. Chromosome pairs are arranged in specific order and labeled.

Discussion Questions:
1. How many chromosomes are present in this karyotype?
In this karyotype, 46 chromosomes are present.
2. How many chromosomes are present in each cell of this human (not including sex cells)?
In each cell of this human, 46 chromosomes are present.
3. What is the diploid chromosome number for your karyotype?
The diploid chromosome number is 46.
4. What is the haploid chromosome number for your karyotype (your karyotype may have 2
answers here)?
The haploid chromosome number is 23.
5. Which sex chromosomes are present in the karyotype you prepared?
In this karyotype, the sex chromosomes that are present are X and Y.
6. What sex will this unborn child be?
The sex of this unborn child will be male.
7. a) According to this karyotype, will this unborn child have a genetic disease or condition?
b) If so, what will it have?
According to this karyotype, this unborn child will not have any disease or condition.
8. When karyotyping, what 2 major pieces of information can be gained about a child before
it's born?
You can gain information such as: the sex of the child and if the child is going to have any
genetic disease or condition.

Analyze Result
To make this human karyotype, we joined each chromosome pair, more specifically
homologues chromosomes, together and then arrange them in a specific order and label. To
identify which chromosomes were homologues, we looked for different but specific
characteristics. We look for the place in which the center of the chromosomes was located (in
other words, the position if the centromeres), the size of the chromosomes their self, the
position and the amount of the alleles and genes, the length of the chromosome's arms and
other characteristics. As we were joining and forming each chromosome pair, we were
labeling them using a page of comparison, because the human karyotype has and specific
order in which chromosomes need to be arrange.
We saw that the resulting human karyotype was normal and doesn’t present any genetic
disorder, defect or disease. That means that the division of the cells were successfully
succeed and that this individual doesn’t inherit any genetic disorder. We knew that because, if
we look at the karyotype, we are able to see that each chromosome has its pair, so there are
not missing any chromosome and that there are not additional chromosomes, among others.

Conclusion
A karyotype is an individual’s complete set of chromosomes or the arranged of
chromosomes. To prepare a karyotype, first the cells from a human are frozen in metaphase
of mitosis, then the cells are broken open in order to remove the chromosomes, after the
“metaphase spread” produced by a single cell is photographed, next the photographed can be
cut and homologous chromosomes arranged in pairs according to size, location and length
and finally chromosome pairs are arranged in specific order and labeled. Also, the importance
of karyotypes is to identify genetic problems as the causes of a disorder or disease, and, in the
karyotype we made, we can see it is completely normal and don´t have any genetic disorder
or disease.