Signature Assignment 6: Pedigree Analysis

Background

Pedigree charts can be used to determine the inheritance mechanism of a particular trait. Here you
will learn to use a pedigree chart to determine if a trait is consistent with autosomal dominant,
autosomal recessive, X-linked dominant or X-linked recessive inheritance. Note that both female and
male individuals are expected to have two copies of every autosomal gene. Female individuals will
also have two copies of every X-linked gene; however, male individuals are expected to contain only
one copy (the Y chromosome does not include X-linked genes). We will need to analyze the same
pedigree chart according to each inheritance mechanism indicating the expected genotype of each
individual on the chart. Here is a 3-step procedure to do this:

1. Write a legend using a capital letter to represent the dominant allele and the lower-case letter
to represent the recessive allele. Here we need to realize that if a trait is dominant, the
mutant allele will act in a dominant fashion over the normal allele. Oppositely, if a trait is
recessive, the mutant allele will act in recessive fashion relative to the normal allele. If the
trait is X-linked, it is a good idea to indicate this in our legend. For example, if we are analyzing
a pedigree chart according to the X-linked dominant inheritance mechanism, our legend may
be as follows: XA = mutant allele, Xa = normal allele, Y = Y chromosome without a copy of gene
A.

2. Look at each symbol on the pedigree chart and recognize that each circle represents a female,
and each square represents a male. If the symbol is filled in, it refers to an individual affected
with the mutant trait. In this step, we will look at each symbol individually without looking at
relationships between individuals. We will write down only what must be part of the
genotype of that individual. As an example below, we will think about X-linked dominant
inheritance and the following pedigree chart:

a a A
XX XY

A a
X Xa XY
If the symbol is not filled in, the individual has the normal phenotype which in this case is due to the
recessive allele. If the symbol is filled in, that individual must have at least one copy of the mutant
allele which is dominant.

3. Now we will look at the relationships between individuals on the pedigree chart to see if we
can label any more alleles and to determine if the genotypes specified in step 2 are possible
based on the rules of X-linked dominant inheritance. We have one more copy of the gene to
identify to complete the genotype of the female in the second generation. She has one copy
of the XA allele which she must have obtained from her father. She must have received her
other X chromosome from her mother and so her genotype must be X AXa. The son was
expected to receive his X chromosome from his mother and his Y chromosome from his father.
The genotypes are consistent with the pedigree chart when analyzed by X-linked dominant
inheritance.

4. We can now analyze this same pedigree chart with autosomal dominant, autosomal recessive,
and X-linked recessive inheritance. As you do this, you will recognize that this pedigree chart is
consistent with all four of these inheritance mechanisms.
Assignment:
Analyze the following pedigree chart with respect to autosomal dominant, autosomal recessive, X-
linked dominant, and X-linked recessive by indicating possible genotypes for all individuals on the
chart for each of the four inheritance mechanisms.

Autosomal Recessive Autosomal Dominant

None of the offspring can have a dominant allele

since neither parent in this pedigree is affected or
has a dominant allele; it is impossible for this to
occur because in order for a dominant allele to be
Legend passed on to the offspring, at least one parent
circle = female must possess a dominant allele.
square = male
shaded = affected Legend
unshaded = unaffected
A = dominant allele circle = female
square = male
a= recessive allele
shaded = affected
unshaded = unaffected
A = dominant allele
a = recessive allele

X-linked recessive X-linked dominant

 None of the offspring can have a dominant allele
since neither parent in this pedigree is affected
Legend or has a dominant allele; it is impossible for this
circle = female to occur because in order for a dominant allele
square = male to be passed on to the offspring, at least one
shaded = affected parent must possess a dominant allele.
unshaded = unaffected
A = dominant allele Legend
a= recessive allele
circle = female
square = male
shaded = affected
unshaded = unaffected
A = dominant allele
a = recessive allele