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PEDIGREE

CHARTS
A family history of a genetic condition

2007 Paul Billiet ODWS

What is a pedigree chart?


Pedigree charts show a record of the family
of an individual
They can be used to study the transmission
of a hereditary condition
They are particularly useful when there are
large families and a good family record over
several generations.

2007 Paul Billiet ODWS

Symbols used in pedigree


charts

Normal male
Affected male
Normal female
Affected female
Marriage

A marriage with five children, two


daughters and three sons. The
eldest son is affected by the
condition.

Eldest child Youngest


child

2007 Paul Billiet ODWS

Organising the pedigree


chart

A pedigree chart of a family showing 20


individuals

2007 Paul Billiet ODWS

Organising the pedigree


chart
Generations

II

III
IV
2007 Paul Billiet ODWS

are identified by Roman numerals

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
2007 Paul Billiet ODWS

Interpreting a Pedigree

What can you tell from a pedigree?


Whether

a family has an autosomal or sexlinked disease or disorder


Autosomal disorder: appears in both sexes
equally
Sex-linked disorder: allele is located only on the
X or Y chromosome. Most sex-linked genes are
on the X chromosome and are recessive
So who would have an X-linked disorder more often,
boys or girls?

Whether

a disorder is dominant or recessive

Is this disorder 1) autosomal or sex


linked, 2) dominant or recessive?
Grandparents

Grandparents

Parents
Aunts, Uncles

Brother

Aunts, Uncles

You

Sex Linked! (in this


case allele is
recessive and located
on the X

Is this disorder 1) autosomal or sex


linked, 2) dominant or recessive?
Grandparents

Grandparents

Parents
Aunts, Uncles

Aunts, Uncles
Autosomal dominant!

Brother

You

Is this disorder 1) autosomal or sex


linked, 2) dominant or recessive?
Grandparents

Grandparents

Parents
Aunts, Uncles

Aunts, Uncles
Autosomal recessive!

Brother

You

Common Genetic Disorders


Color blindness
Sickle cell anemia
Cystic Fibrosis
Hemophilia
Huntingtons Disease

For more info, go to: http://www.ncbi.nlm.nih.gov/pubmedhealth/

Color Blindness
Deficiency to

percieve
colors
Problem with
color-sensing
pigments in
certain nerve
cells of the eye
About 1 in 10
men have
some form of

What are blood types?


There are 3 alleles or genes for blood type: A, B, & O. Since
we have 2 genes, there are 6 possible blood type combinations.

How common is your blood type?

46.1%
38.8%
11.1%
3.9%

Antibodies

Blood Transfusions
A blood transfusion is a procedure in which blood is given to a patient through an
intravenous (IV) line in one of the blood vessels. Blood transfusions are done to replace
blood lost during surgery or a serious injury. A transfusion also may be done if a persons
body can't make blood properly because of an illness.
Who can give you blood?

Universal Donor

People with TYPE O blood are called


Universal Donors, because they can give
blood to any blood type.
People with TYPE AB blood are called
Universal Recipients, because they can
receive any blood type.
Rh + Can receive + or Rh - Can only receive Universal Recipient

Rh Factors
Scientists sometimes study Rhesus monkeys
to learn more about the human anatomy
because there are certain similarities between
the two species. While studying Rhesus
monkeys, a certain blood protein was
discovered. This protein is also present in the
blood of some people. Other people, however,
do not have the protein.
The presence of the protein, or lack of it, is
referred to as the Rh (for Rhesus) factor.
If your blood does contain the protein, your
blood is said to be Rh positive (Rh+). If your
blood does not contain the protein, your blood
is said to be Rh negative (Rh-).
http://www.fi.edu/biosci/blood/rh.html

A+
B+
AB+
O+

ABABO-