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Pedigree Nomenclature
(Pedigree Analysis)
Ikram Ullah
M.Phil MLSc
Overview
I. What is a pedigree?
a. Definition
b. Uses
II. Constructing a pedigree
a. Symbols
b. Connecting the symbols
 Interpreting a pedigree
What is a Pedigree?
 A pedigree is a chart of the genetic history of family
over several generations.
 Scientists or a genetic counselor would find out about
your family history and make this chart to analyze.
 The term pedigree arose in the fifteenth century, from the
French pie de grue, which means “crane’s foot.”
 Charts called pedigrees display family
relationships and depict which relatives have
specific phenotypes and, sometimes, genotypes
A pedigree in genetics differs from a family tree in
genealogy
And from a genogram in social work, in that it
indicates disorders or traits as well as relationships
and ancestry
 Pedigree: In a pedigree chart, only the direct ancestors of
the person of interest are listed.
 In other words, my pedigree sheet would include my mother
and her parents.
 But it would not include my mother's siblings or her parents'
siblings.
 This is because those people are not my direct ancestors
 Family Tree: a family tree would show all of those people
who are omitted from the pedigree chart.
 It would show my aunts and uncles and cousins and my
great aunts and uncles as well.
 A family tree, therefore, gives much more information than a
pedigree sheet does
 Genogram
 A genogram is a tool for tracking family history and
relationships similar to a family tree.
 Genograms indicate gender, age, ethic origin, health status,
educational achievements, family relationships, social
relationships, and emotional relationships using a series of
color coded lines, shapes, and symbols.
Constructing a Pedigree
 Female
 Male
Connecting Pedigree Symbols
Examples of connected symbols:
 Fraternal twins
 Identical twins
Connecting Pedigree Symbols
Examples of connected symbols:
 Married Couple
 Siblings
Example
 What does a pedigree chart look like?
Symbols in a Pedigree Chart
 Affected
 X-linked
 Autosomal carrier
 Deceased
Interpreting a Pedigree Chart
1. Determine if the pedigree chart shows an
autosomal or X-linked disease.
– If most of the males in the pedigree are
affected the disorder is X-linked
– If it is a 50/50 ratio between men and
women the disorder is autosomal.
Example of Pedigree Charts
 Is it Autosomal or X-linked?
Answer
 Autosomal
Interpreting a Pedigree Chart
1. Determine whether the disorder is
dominant or recessive.
– If the disorder is dominant, one of the
parents must have the disorder.
– If the disorder is recessive, neither
parent has to have the disorder because
they can be heterozygous.
Example of Pedigree Charts
 Dominant or Recessive?
Answer
 Dominant
Example of Pedigree Charts
 Dominant or Recessive?
Answer
 Recessive
Summary
 Pedigrees are family trees that explain your
genetic history.
 Pedigrees are used to find out the
probability of a child having a disorder in a
particular family.
 To begin to interpret a pedigree, determine
if the disease or condition is autosomal or X-
linked and dominant or recessive.

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Pedigree nomenclature

  • 2. Overview I. What is a pedigree? a. Definition b. Uses II. Constructing a pedigree a. Symbols b. Connecting the symbols  Interpreting a pedigree
  • 3. What is a Pedigree?  A pedigree is a chart of the genetic history of family over several generations.  Scientists or a genetic counselor would find out about your family history and make this chart to analyze.  The term pedigree arose in the fifteenth century, from the French pie de grue, which means “crane’s foot.”
  • 4.  Charts called pedigrees display family relationships and depict which relatives have specific phenotypes and, sometimes, genotypes A pedigree in genetics differs from a family tree in genealogy And from a genogram in social work, in that it indicates disorders or traits as well as relationships and ancestry
  • 5.  Pedigree: In a pedigree chart, only the direct ancestors of the person of interest are listed.  In other words, my pedigree sheet would include my mother and her parents.  But it would not include my mother's siblings or her parents' siblings.  This is because those people are not my direct ancestors  Family Tree: a family tree would show all of those people who are omitted from the pedigree chart.  It would show my aunts and uncles and cousins and my great aunts and uncles as well.  A family tree, therefore, gives much more information than a pedigree sheet does
  • 6.  Genogram  A genogram is a tool for tracking family history and relationships similar to a family tree.  Genograms indicate gender, age, ethic origin, health status, educational achievements, family relationships, social relationships, and emotional relationships using a series of color coded lines, shapes, and symbols.
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  • 9. Constructing a Pedigree  Female  Male
  • 10. Connecting Pedigree Symbols Examples of connected symbols:  Fraternal twins  Identical twins
  • 11. Connecting Pedigree Symbols Examples of connected symbols:  Married Couple  Siblings
  • 12. Example  What does a pedigree chart look like?
  • 13. Symbols in a Pedigree Chart  Affected  X-linked  Autosomal carrier  Deceased
  • 14. Interpreting a Pedigree Chart 1. Determine if the pedigree chart shows an autosomal or X-linked disease. – If most of the males in the pedigree are affected the disorder is X-linked – If it is a 50/50 ratio between men and women the disorder is autosomal.
  • 15. Example of Pedigree Charts  Is it Autosomal or X-linked?
  • 17. Interpreting a Pedigree Chart 1. Determine whether the disorder is dominant or recessive. – If the disorder is dominant, one of the parents must have the disorder. – If the disorder is recessive, neither parent has to have the disorder because they can be heterozygous.
  • 18. Example of Pedigree Charts  Dominant or Recessive?
  • 20. Example of Pedigree Charts  Dominant or Recessive?
  • 22. Summary  Pedigrees are family trees that explain your genetic history.  Pedigrees are used to find out the probability of a child having a disorder in a particular family.  To begin to interpret a pedigree, determine if the disease or condition is autosomal or X- linked and dominant or recessive.