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Pedigree Charts
Chapter 14.1
Definition…
• A pedigree illustrates a family history
that shows how a trait is inherited over
several generations.
Basic Pedigree Symbols
= female
= male
= marriage (or reproductive couple)
= children
Basic Pedigree Symbols
(Continued)
= female without trait
= male without trait
= female with trait
= male with trait
Patterns of Inheritance Rules
1. Is the trait located on a sex chromosome or an autosome?
– The trait shows up only (or more often) in one sex
• Autosomal – not on a sex chromosome
• Sex Linked – located on the X chromosome
– X-linked (recessive) - sons inherit the disease from
normal parents
2. How is the trait expressed?
– Dominant - the trait is expressed in every generation
– Recessive - expression of the trait may skip generations
Example 1: Albinism
• Expressed in both sexes at approximately equal frequency.
– Thus, autosomal
• Not expressed in every generation.
– Thus, recessive
Albinism Example:
Genotype the Affected Individuals
• Assign codes for the alleles.
– Code “A” for the dominant normal allele.
– Code “a” for the recessive allele for albinism.
• Affected individuals must be homozygous for “a.”
• First generation parents must be “Aa” because they have normal
phenotypes, but affected offspring.
Albinism Example:
Genotype the Normal Individuals
• Normal individuals must have at least one “A.”
Albinism Example:
Parent-Offspring Relationships
• #1 must transmit “a” to each offspring.
• The “A” in the offspring must come from the father.
• Normal father could be either heterozygous or
homozygous for an “A.”
**
How about genotype of individual #2?
• Look at his children – homozygous OR heterozygous?
– Could be either AA or Aa
Example 2: Hemophilia
• In this pedigree, only males are affected, and sons do not
share the phenotypes of their fathers
– Thus, hemophilia is linked to X chromosome
– Thus, it is sex-linked
• Expression of hemophilia skips generations
– Thus, it is recessive
Extensive bruising of
the left forearm and
hand in a patient with
hemophilia.
Hemophilia Example:
Genotype of Affected Individuals
• Assign codes for the alleles.
– Code “h” for the recessive hemophilia allele.
– Code “H” for the normal allele.
• Affected individuals must have an “h” on an X
chromosome.
Hemophilia Example:
Father-Daughter Relationship
• All daughters of an affected father receive an X
chromosome with the “h” allele.
Hemophilia Example:
Genotype of Normal Individuals
• Normal individuals must have at least one X chromosome with the
“H” allele
Normal Phenotype:
Homozygous or Carrier (heterozygous)
• Pattern of Inheritance?
– sex-linked, recessive
• Normal Females
– Carriers must have an affected father
• Normal Males
– must be homozygous as only have 1 X chromosome
Pedigree Video
https://www.youtube.com/watch?v=Wuk
0W10EveU
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