Pedigree Analysis: A Family Tree of Traits

Objective

Use pedigree analysis to determine how several human physical traits are inherited.

Introduction

Do you have the same hair color or eye color as your mother? Do people say you look
just like your grandfather when he was your age? When we look at members of a family
it is easy to see that some physical characteristics or traits are shared, but what are the
rules that govern the inheritance of these traits?

It was Gregor Mendel, an Augustinian friar and scientist, who first discovered in the
1860's that some traits are passed down from generation to generation, in very clear
and predictable patterns. Today we know that offspring inherit half of their DNA from
each parent. This results in two copies of every gene. Many genes come in several
different versions, called alleles. Alleles are changes in the actual DNA sequence of the
gene. When you have two identical alleles you are said to be homozygous for that
gene. People with two different alleles are heterozygous for that gene. Whatever set of
alleles a person has is called their genotype. The actual trait, such as red, black, or
blond hair, which results from a combination of alleles, is referred to as the phenotype.

Mendelian traits— the kind of characteristics Mendel first studied— are due to a single
gene. Some of such a gene's alleles are dominant, meaning that if you have even one
copy of that allele, you will display that trait. Mendel took pea plants, which bred true,
meaning for generation after generation they had the same phenotypes. (Today we
know that they bred true because they were homozygous for the traits Mendel was
looking at). He took a true-breeding purple flowered plant and crossed it to a true-
breeding white flowered plant and saw that the offspring all had purple flowers. The
purple allele was dominant— a single copy of that allele was sufficient. He then took
these offspring and crossed them to one another. This crossing is shown in Figure 1
below, where the top flowers ("Aa") are these heterozygous parents. He found that their
offspring occasionally had white flowers. That is because the white allele
was recessive, which means you need two copies of that allele to display a certain trait.
The offspring that inherited the white allele from both parents displayed the white
phenotype.
 Figure 1. Two heterozygous parents displaying the dominant phenotype can give rise to
offspring with either the dominant or the recessive phenotype depending on which alleles the
offspring inherit.

Just like Mendel observed generations of related pea plants to determine the mode of
inheritance for flower color and other physical traits, scientists can examine
generations within a family and discover the mode of inheritance for human traits. To do
this, scientists create family trees, called pedigrees, showing as many generations of a
family as they can and marking who had which phenotype. Two pedigree examples are
shown in Figure 2 below. In order for scientists to understand each other's pedigrees,
they use a standard set of symbols and notations. For example, males are always
designated by a square and females are always designated by a circle.
 Figure 2. Here are two pedigrees showing the same three generations of a family. A
specific trait is shown as a solid black circle or square. The pedigree on the left is an
example of a dominant trait in this family. The pedigree on the right depicts a recessive
trait.

In this genetics and genomics science project, you will create pedigrees for four human
physical traits to determine which phenotypes are dominant and which are recessive.
While it has been recently found that these four traits may not be Mendelian traits
(meaning they may be caused by more than one gene, based on more than two alleles,
or affected by factors other than genetics), they are still considered to be primarily
based on genetics and you can investigate them to try and determine which are
dominant and which are recessive. Here are the four traits you will investigate:

 Do you have attached earlobes or detached earlobes? See Figure 3 below for
an example of each.

Figure 3. This diagram shows the difference between detached earlobes and attached
earlobes.

 Some people's hairlines come to a V-shaped point above their forehead. This is
called a widow's peak. See Figure 4 below for an example. Do you have one or
not?
 Figure 4. Here is an example of a straight hairline versus one with a widow's peak.

 Take a look at your hands. Do you have little hairs on your second joints, also
called the mid-digits? Some people have hair on their mid-digits, called mid-digit
hair, and some people do not have any hair there, as shown in Figure 5 below.

Figure 5. This photograph shows where mid-digits on a hand are. Some people have
tiny mid-digit hairs while other people have no hairs on their mid-digits. This person has
no mid-digit hair.

 Make a fist with your thumb sticking up. Is your thumb straight or curved? A
curved thumb is also known as a hitchhiker's thumb. A slightly curved thumb is
shown in Figure 6 below.
Materials and Equipment

 Paper
 Pen
 Optional: Access to a photocopier
 Lab notebook

Experimental Procedure

Before starting this science project, you should go through your reference material and
familiarize yourself with the proper way to draw a human pedigree.

1. To start this science project, you should draw a pedigree showing the different members
of your family.
a. Include as many family members as you can get data from. The more people and
generations you include, the more likely it is that you will have enough
information to determine the mode of inheritance. Ideally you should include
multiple people from at least three generations (such as you and your siblings,
your parents and possibly their siblings, and your grandparents).
b. You might need help from your parents to figure out all the relationships.
2. If you have access to a photocopier, make three copies of the pedigree so that you have
four copies total, one for each trait you are going to evaluate. If photocopying is not an
option, manually copy the pedigree.
3. Determine the phenotype of each person on your pedigree for each of the four traits.
Use a separate pedigree for each trait. Here are some tips to consider as you fill out the
pedigrees:
a. When determining if a person's earlobes are attached or detached, keep in mind
that there can be a range of attachment. Do your best to decide if it looks like the
earlobe is attached or detached. You can write additional observations in your lab
notebook.
b. Widow's peaks can vary considerably. When determining if a person has a
widow's peak, count any sort of V-shaped hairline as a widow's peak.
i. You may need to have a person pull their hair back to look for a widow's
peak.
c. When looking to see if someone has mid-digit hair, you may need to look closely
at their hands. If they have any hair on the mid-digit, even one tiny strand, then
they have mid-digit hair.
i. If a person does not have mid-digit hair and does a lot of work with their
hands, you may want to make a note of this in your lab notebook because
doing a lot of manual hand work may also wear a person's mid-digit hair
away.
d. When determining if someone has a hitchhiker's thumb, keep in mind that
people's thumbs come in a wide range of curvedness, from completely straight to
very curved. Do your best to decide if a person's thumb looks curved or straight.
You can write additional observations in your lab notebook.
4. From your pedigrees, can you deduce the mode of inheritance for each trait or at least
some of the traits? In other words, can you tell if any of the traits are dominant or
recessive? If you do not have enough information to determine the mode of inheritance
of a particular trait, try making a pedigree for another family.