Karyotyping Lab

How do Scientists Read Chromosomes?

To "read" a set of human chromosomes, scientists first use three key features to identify their similarities and differences:
1. Size. This is the easiest way to tell two different chromosomes apart.
2. Banding pattern. The size and location of Giemsa bands on chromosomes make each chromosome pair unique.
3. Centromere position. Centromeres are regions in chromosomes that appear as a constriction. They have a special role in the
separation of chromosomes into daughter cells during cell division (mitosis and meiosis).

The position of the centromere relative to the end of the chromosome helps scientists tell chromosomes apart. Centromere position
can be described three ways: metacentric, submetacentric or acrocentric.

Using these key features, scientists match up the 23 pairs -- one set from the mother and one set from the father.

Karyotypes
A complete set of a person’s chromosomes is called a karyotype. A karyotype can be used to detect any chromosome abnormalities.
These abnormalities can be caused by either missing, additional, or rearranged chromosomes within a person’s cells. These
chromosomal abnormalities can cause serious physical disabilities. There are several methods of studying a karyotype. One way is
to visually match up each pair of chromosomes based on length, centromere location, and banding patterns to see if any are missing
or added. The picture below shows a normal set of chromosomes each matched up with its homolog. As you can see, the only pair
that does not match are the sex chromosomes. The person whose karyotype is shown is a male because there is one X and one Y
chromosome.

Chromosome Abnormalities
By examining a person’s karyotype and comparing it to a normal
karyotype, some genetic disorders can be identified. There are two key
ways in which a genetic disorder is caused. One is through
chromosome abnormalities, which involve large amounts of genetic
information. These abnormalities can be identified by examining a
person’s karyotype. Chromosome abnormalities can be caused by
different events. Sometimes a person is born with an extra copy of a
chromosome or missing a copy of a chromosome. This occurs by a
process known as nondisjunction during cellular meiosis. Meiosis as
you know is the process cells use to divide and make eggs and sperm.
Nondisjunction occurs when matching chromosomes that have lined up
along the middle of the cell during metaphase do not properly separate
during anaphase. Instead of one copy going to each daughter cell, one
daughter cell gets both copies of that chromosome and another
daughter cell does not get any copies of that particular chromosome. A
zygote formed from one of these cells will either have 47 or 45 total
chromosomes, respectively.

Patau Syndrome (Trisomy 13)

Symptoms: Severe mental retardation, split in the iris, opening in the roof of the mouth (cleft palate), cleft lip, weak muscle tone,
skeletal abnormalities, heart defects.
Mortality: Rarely live past infancy

Edward Syndrome (Trisomy 18)

Symptoms: low birth weight, small abnormally shaped head, small jaw/mouth, clenched fists with overlapping fingers, mental
retardation, heart defects, organ abnormalities
Mortality: only 5-10% of those born live to be one year old
Cause: three copies of chromosome 18 in each cell
Down Syndrome (Trisomy 21)
Symptoms: low muscle tone, flattened facial profile, upward slanting eyes, developmental delay, and a single crease across the palm
of the hand.
Mortality: This is not a fatal disorder and many people with Down’s syndrome can have a good quality of life. The average life
expectancy is now 55 years old.
Cause: three copies of chromosome 21 in each cell.

Cause: three copies of chromosome 13 in each cell.

Klinefelter Syndrome (XXY)

Symptoms: Infertility, decrease in facial and body hair, some trouble with language, tall, social problems.
Prevalence: 1 out of every 500-1000 males.
Cause: Male with an extra X chromosome.

Triple X Syndrome (Trisomy X)

Symptoms: Usually no noticeable problems. Sometimes it can cause a person to be taller than average, and has an increased risk for
learning disabilities.
Cause: 3 copies of the X chromosome in each cell.

XYY Karyotype
Symptoms: Usually none. Sometimes they are taller than average and have an increased risk of learning disabilities.
Cause: Males that have an extra Y chromosome in each cell.

Turner Syndrome Other name: Monosomy X

Symptoms: Short stature, loss of ovarian function, do not undergo puberty, webbed neck, skeletal abnormalities, kidney problems,
swelling of the hands and feet, and characteristic facial features.
Cause: Girls with one normal X chromosome and the other is missing or incomplete.

PROCEDURE

Activity 1: Practice karyotyping.

http://learn.genetics.utah.edu/content/begin/traits/karyotype/

Activity 2: Diagnose disorders

http://learn.genetics.utah.edu/content/begin/traits/predictdisorder/

Activity 3: Perform karyotyping.

http://www.biology.arizona.edu/human_bio/activities/karyotyping/karyotyping.html
Introduction  Patient history  Patient 1… Print the completed patient 1 karyotype
page

Patient 2… Print the completed patient 2 karyotype

page

Patient 3… Print the completed patient 3 karyotype

page

Complete all 7 questions  neatly put all your work together  submit for evaluation.