Pedigree Analysis – Mode of Inheritance

Learning Objectives:
 Determine the genotypes and phenotypes of
One of the easiest ways of observing the pattern of individuals in a pedigree
inheritance within a family group is by the construction of a  Determine the mode of inheritance for a trait
pedigree or family tree. We can use this pedigree to work out (autosomal or X-linked, dominant or recessive)
from the pattern of inheritance in a pedigree
the genotypes of all the individuals in the family. Before we
 Determine the probability of inheriting a
do this, we must determine the mode of inheritance for the particular condition, using information
trait. There are four modes of inheritance that we must be contained in a pedigree
able to determine from a pedigree:
 Autosomal dominant
 Autosomal recessive
 X-linked dominant
 X-linked recessive

Autosomal recessive and Autosomal dominant

Remember, autosomal traits are those carried on the

22 pairs of autosomal (non-sex) chromosomes.

Autosomal Recessive

Over a large number of pedigrees, there are approximately equal numbers of males and
females with the trait. The trait may disappear from a branch of the pedigree but reappear
in later generations.
Signs that a condition/trait is
AUTOSOMAL RECESSIVE:
 Two individuals that do not
have the trait have a child
with the trait  this tells you it
is recessive
 Equal chance of both sexes having the trait
 this tells you it is autosomal
 A female with the trait does not have to have
a father with the trait  this tells you it is
Examples of AUTOSOMAL RECESSIVE autosomal
conditions:  If both parents have trait, ALL of the
 Phenylketonuria (PKU) offspring will have the trait  this tells you it is
recessive
 Cystic fibrosis
So, on the pedigree, those individuals shaded
 Rh blood group
in must be homozygous recessive (eg rr).
Autosomal Dominant

Over a large number of pedigrees, there are approximately equal numbers of males and
females with the trait. Once the trait disappears from a branch of a pedigree, it does not
reappear.

Signs that a condition/trait is

Examples of AUTOSOMAL DOMINANT conditions: Individuals that do not have the trait
 Huntington disease
 Achondroplasia (form of dwarfism)
AUTOSOMAL DOMINANT:
 Two individuals that do have the
trait have a child that does not
have the trait  this tells you it is
dominant
 Equal chance of both sexes
having the trait  this tells you it is
autosomal
 Each individual with the trait has
at least one parent with the trait
 this tells you it is dominant
 An individual that does not have
the trait cannot transmit the
dominant allele.
must be homozygous recessive (eg. rr).
These are the unshaded individuals.
 Sex linked (X linked) recessive

Remember, the 23rd pair of chromosomes are the sex chromosomes.

Males are XY and females are XX.
Sex-linked traits/conditions are those carried on the X chromosome.

Sex-linked Recessive
In a large sample, more males than females show the trait. The trait may disappear from a
branch of the pedigree but reappear in later generations.

Signs that a condition/trait is

SEX-LINKED RECESSIVE
 Individuals with the trait are
usually male  this tells you it is
most likely sex-linked
 A female with the trait MUST
have a father with the trait  this
tells you it is sex-linked
 All the sons of a woman with the
trait will also have the trait  this
tells you it is sex-linked and recessive
Examples of SEX-LINKED RECESSIVE conditions:  Two parents that do not show
 Haemophilia the trait can have children with
 Colour blindness the trait  this tells you it is
recessive
 Duchenne muscular dystrophy
 All the daughters of a male with
the trait will be carriers of the
trait and will not show the trait;
the trait can appear in their sons.
Sex-linked Dominant
In a large sample, more females than males show the trait. If the trait disappears from a
branch of a pedigree, it does not reappear.

Signs that a condition/trait is

SEX-LINKED DOMINANT
Example of a SEX-LINKED DOMINANT condition:
 Vitamin D resistant rickets
 Individuals with the trait are
usually female  this tells you it is
most likely sex-linked
 A male with the trait will pass it
on to all his daughters and none
of his sons.  this tells you it is sex-
linked dominant
 A female with the trait may pass
it on to both her sons and
daughters.
 Every person with the trait has at
least one parent with the trait. 
this tells you it is dominant

How to solve pedigree problems

When you are required to identify the mode of inheritance of a trait from a pedigree, here is
a suggested starting point for this problem-solving process:

1. Is the trait dominant or recessive? Look for two parents without the trait that have a
child with the trait, which tells you the trait is recessive.
2. If the trait is recessive, you then look at the sexes affected. If the trait is
predominantly male then it is more likely to be X-linked recessive, if there are equal
numbers of both sexes with the trait it is more likely to be autosomal recessive.
3. If the trait is dominant, look for any man with the trait and see if you can find any
examples where his daughters do not have the trait. If you find this, then the trait
must be autosomal.