Practical lesson General Genetics

Practical lesson
Barr bodies
Introduction
Sex determination in humans is controlled by the presence/absence of the Y
chromosome. If an individual possesses the Y chromosome it will be a male, if not then
it will be a female. For example, individuals with Klinefelter syndrome with genotype 47,
XXY (the number is the total number of chromosomes of the individual in a diploid cell)
are male; and individuals with Turner syndrome 45, X0 are female in the same way as
individuals with 47, XXX. An abnormal number of chromosomes usually causes the
death of the individual, but there are some exceptions such as those above or Down’s
syndrome (21 trisomy), Patau syndrome (13 trisomy), and Edwards syndrome (18
trisomy).

Females have two X chromosomes and males just one. To compensate for this
difference one of the female X chromosomes can inactivate forming a condensate mass
of chromatin called the Barr body (named for its discoverer the Canadian anatomist
Murray Llewellyn Barr (1908–1995)). This Barr body can be observed in female cells
and not in male cells. Mary Lion proposed that the inactivation of X chromosomes is
random (the inactivated chromosome can be from the male or the female) and takes place
around 16 days after fertilization. This can cause a mosain in the embryo and also in the
adult female (see Figure 1).

Barr body

Zigote
Early embryo

Figure 1. Random inactivation of X chromosome

http://www.biotech.bioetica.org/clase1-18.htm

Barr bodies can be observed from a buccal smear (Figure 2). Extract cells from
the mouth by rubbing the tongue or the internal part of the cheek with a spatula and
examine under a slide. Cells can be examined to determine the number of Barr bodies per
cell. In this way it can be determined if the subject is male or female or has chromosome
abnormalities.

1
Practical lesson General Genetics

Figure 2. Bucal smear. http://salud.terra.es/web/enciclopedia

Objetives
 Being able to prepare cells for observation of Barr bodies under the
microscope.
 Being able to identify cells with Barr bodies from saliva samples.
 Being able to analyse the consequences of the existence of Barr bodies.

Materials
Products and equipment
 Acetic Orcein 1%
 Slide covers
 Slides
 Optic microscope
 Filter paper
 Forceps
 Tongue depressor

Method

1. Put a drop of distilled water on a slide

2. Collect cell sample with a tongue depressor.
3. Put the sample in the water on the slide
4. Put a drop of Orcein on the slide.
5. Mix and ensure the sample does not dry.
6. Examine under the optical microscope.

Question to solve before de lab session

1. What are the consequences of random inactivation of sex chromosomes?

Question to solve after de lab session

1. Would you use the technique described in this lab session to determine a person's
sex?