Pedigree Charts

In the case of humans, it is not ethical to carry out test cross.  In humans, a pedigree chart is used
instead.  A pedigree chart is a genetic representation of a family tree that diagrams the inheritance
of a single trait or disease though several generations. The pedigree shows the relationships
between family members and indicates which individuals express or silently carry the trait in
question.

 A male is represented by a square or the symbol ♂, a female by a circle or the symbol ♀. Mating is
shown by a horizontal line (marriage line) connecting a male symbol and a female symbol; offspring
symbols are connected in a row (sibship line) beneath the mated pair. The offspring symbols appear
from left to right in the order of birth and are connected to the marriage line by a vertical line.
Possession of the character under study is shown by a solid or blackened symbol, and absence is
shown by an open or clear symbol. 
Assume that the pedigree chart above shows the inheritance of the autosomal recessive disorder
albinism where individuals with two recessive alleles have no melanin in their skin, hair or eyes.
et A represent the allele for normal melanin production

Let a represent the allele for albinism

Example 1 solutions

a. Each row of individuals in a pedigree chart represent one generation.  since there are five rows of
individuals , there are 5 generations I, II, III, IV, V.

b.  We know that the trait is a recessive disorder because in recessive disorders, it is possible for two
individuals without the disorder to have an offspring with the disorder.  if it were a dominant
disorder, at least one parent would need to carry the dominant allele and therefore have the
disorder.  In the second generation II, individuals 1 and 2 and individuals 4 and 5 are both unaffected
but they have a child with the disorder (third generation III, individual 4 and 8 respectively).

c.  Individuals who are hybrids are those heterozygous for the disorder.  In some pedigree charts, the
circles and squares are half shaded to show those that are heterozygous or carriers of the disorder. 
Most pedigree charts do not use half shaded circles or squares though.   If we were to include half
circles and squares to identify all the individuals who we were sure were hybrids
(heterozygous/carriers), we would have to half shade the following individuals:

Generation II - 1, 2, 3, 4, 5

Generation IV - 1, 2, 3 and 6

Generation V - 2

d. Although individual 6 is unaffected, he has an affected son so he must carry a recessive allele.  He
is therefore heterozygous Aa. 
Example 2

Write down the genotypes of individuals 1, 2, 4, 7 and 11 if this pedigree chart shows
the inheritance of the X sex-linked disorder haemophilia. 

Let H represent the allele for normal blood clotting

Let h represent the allele for haemophilia

1.  Xh Xh

2. XH Y

4. XH Xh

7. Xh Y

11. XH Y