PEDIGREE

CHARTS
A family history of a genetic condition

© 2016 Paul Billiet ODWS

 What is a pedigree chart?

 A record of the family of an individual

 Used to study the transmission of a
hereditary condition
 Useful when there are large families and a
there is a good family record over several
generations.

© 2016 Paul Billiet ODWS

 Studying human genetics

 You cannot make humans of different types

breed together
 Pedigree charts offer an ethical way of studying
human genetics
 Today genetic engineering has new tools to
offer doctors studying genetic diseases
 A genetic counsellor will still use pedigree charts
to help determine the distribution of a disease in
an affected family.

© 2016 Paul Billiet ODWS

 Symbols used in pedigree
charts
A marriage with five children, two
daughters and three sons. The middle
 Normal male son is affected by the condition
 Affected male
 Normal female
 Affected female
 Marriage.
Eldest child  Youngest child

© 2016 Paul Billiet ODWS

 Organising the pedigree
chart
 A pedigree chart of a family showing 20
individuals.

© 2016 Paul Billiet ODWS

 Organising the pedigree
chart
 Generations are identified by Roman
numerals.
I

II

III

IV
© 2016 Paul Billiet ODWS
 Organising the pedigree
chart
 Individuals in each generation are identified by Arabic
numerals numbered from the left
 Therefore the affected individuals are II3, IV2 and IV3.
I

II

III

IV
© 2016 Paul Billiet ODWS
 Tongue rolling

© 2016 Paul Billiet ODWS

  If two affected individuals give rise to an
unaffected child the affected condition is
dominant
 So roller allele is dominant (R) and non-
roller allele is recessive (r).

© 2016 Paul Billiet ODWS

 Tongue rolling

© 2016 Paul Billiet ODWS

 Tongue rolling

rr

rr

rr rr
rr

© 2016 Paul Billiet ODWS

 Tongue rolling

 All non-rollers must be genotype rr

© 2016 Paul Billiet ODWS

 Tongue rolling

rr

rr

rr rr
rr

© 2016 Paul Billiet ODWS

 Tongue rolling

rr Rr

Rr rr Rr Rr Rr

rr rr
Rr
rr

© 2016 Paul Billiet ODWS

 Tongue rolling

 If one of the parents is a roller and the

other is a non-roller all the roller children
must be heterozygous rollers (Rr)
 If a roller parent has a non-roller child
the parent must be heterozygous.

© 2016 Paul Billiet ODWS

 Tongue rolling

Unfortunately people can learn to roll their

tongues too.

© 2016 Paul Billiet ODWS

 Albinism

© 2016 Paul Billiet ODWS

 Albinism

aa

Aa Aa Aa

Aa Aa Aa
Aa

aa aa aa aa
© 2016 Paul Billiet ODWS
 Albinism - a recessive
condition
 If two unaffected individuals give rise to
an affected child, the allele for the
affected condition is recessive
 The unaffected parents are carriers
(heterozygous)
 Thus recessive conditions can skip
several generations
 Inbreeding increases the chance of
carriers producing an affected child.

© 2016 Paul Billiet ODWS

 Polydactyly

© 2016 Paul Billiet ODWS

 Dominant conditions

 If two affected parents have an unaffected child

the allele for the affected condition is dominant.

© 2016 Paul Billiet ODWS

Brachydactyly

© 2016 Paul Billiet ODWS