Pedigree charts

The family tree of genetics

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Overview
Autosomal dominant
I. What is a

pedigree?
a. Definition
b. Uses

II. Constructing a
pedigree
a. Symbols
b. Connecting the
If this were autosomal recessive, you would not
symbols expect individual #7 to not express the trait. Note
that matings between non-expressing individuals
III.Interpreting a always produce non-expressing offspring. This tells
you that the expressed trait is dominant.
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What is a pedigree?

• A graphic representation of how a

trait is passed from parents to
offspring.
• A chart of the genetic history of
family over several
generations.
• A genetic counselor would find out
about your family history and
Constructing a pedigree

• Female

• Male
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Connecting pedigree symbols

Examples of connected symbols:

• Fraternal twins
• Identical twins
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Connecting pedigree symbols

Examples of connected symbols:

Parents

Siblings
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Example

What does a pedigree chart look like?

 Pedigree Chart 8

Symbols
Affected

X-linked

Carrier

Deceased
 Autosomal means inherited on chromosome 1-22 while sex-
linked means inherited on either X or Y chromosome.
 Autosomal recessive
 e.g., PKU, Tay-Sachs, albinism
 Autosomal dominant
 e.g., Huntington’s Disease
 X-linked recessive (meaning this allele is found on only the X
chromosome: can be in males or females)
 e.g., color-blindness, hemophilia
 X-linked dominant (meaning this allele is found on X
chromosomes; can be in males or females)
 e.g., hypophosphatemia
 Y-linked (meaning the allele is found on the Y chromosome
and can only be in males. 9
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Interpreting a pedigree
chart
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*.

* autosomal is a chromosome which is not a sex

chromosome.
• Trait is rare in the pedigree

• Trait often skips generations (hidden

in heterozygous carriers)

• Trait affects males and females

equally

• Possible diseases include: Cystic

fibrosis, Sickle cell anemia,
Phenylketonuria (PKU), Tay-Sachs
disease
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 Trait is common in the pedigree
 Trait is found in every generation
 Affected individual also transmit
the trait to about 1/2 of their
children (regardless of sex).
 There are few autosomal dominant
human diseases but some rare
traits have this inheritance pattern.
 For example: achondroplasia (a
sketelal disorder causing dwarfism)
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 Trait is common in the pedigree
 Trait is found in every generation
 Affected individual also transmit
the trait to about 1/2 of their
children (regardless of sex).
 There are few autosomal dominant
human diseases but some rare
traits have this inheritance pattern.
 For example: achondroplasia (a
sketelal disorder causing dwarfism)
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Half the people in the Venezuelan
village of Barranquitas are affected
- A large-scale pedigree analysis
was
conducted including 10,000 people
- Example for one

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• Trait is rare in pedigree
• Trait skips generations
• Affected fathers DO NOT
pass to their sons
• Males are more often
affected than females
• Females are carriers (passed
from mom to son) 15
• Trait is common in pedigree
• Affected fathers pass to ALL of
their daughters
• Males and females are equally
likely to
be affected
• X-linked dominant diseases are extremely
unusual
• Often, they are lethal (before birth) in males
and only seen in females ex. incontinentia
pigmenti (skin lesions)
ex. X-linked rickets (bone lesions)
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 Traits on the Y
chromosome are only
found in males,
never in females.
 The father’s traits are
passed to all sons.
 Dominance is
irrelevant: there is only
1 copy of each Y-
linked gene
(hemizygous).
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 Mitochondria are only
inherited from the
mother.

 If a female has a
mitochondrial trait,
all of her offspring
inherit it.
 If a male has a
mitochondrial trait,
none of his offspring
inherit it. 14
 We are now going to look at detailed analysis
of dominant and recessive pedigrees.
 To simplify things, we are going to only use
these two types.
 The main problems:
1. determining inheritance type
2.determining genotypes for various
individuals
3. determining the probability of an
affected
offspring between two members of 19
 We are now going to look at detailed analysis
of dominant and recessive pedigrees.
 To simplify things, we are going to only use
these two types.
 The main problems:
1. determining inheritance type
2.determining genotypes for various
individuals
3. determining the probability of an
affected
offspring between two members of 20
 1. All unaffected are dd.
 2. Affected children of an affected parent and an
unaffected parent must be heterozygous Dd, because
they inherited a d allele from the unaffected parent.
 3. The affected parents of an unaffected child must be
heterozygotes Dd, since they both passed a d allele to
their child.
 4. Outsider rule for dominant autosomal pedigrees: An
affected outsider (a person with no known parents) is
assumed to be heterozygous (Dd).
 5. If both parents are heterozygous Dd x Dd, their
affected
offspring have a 2/3 chance of being Dd and a 1/3 chance
of being DD.
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 1. all affected are rr.
 2. If an affected person (rr) mates with an unaffected
person, any unaffected offspring must be Rr
heterozygotes, because they got a r allele from their
affected parent.
 3. If two unaffected mate and have an affected child, both
parents must be Rr heterozygotes.
 4. Recessive outsider rule: outsiders are those whose
parents are unknown. In a recessive autosomal pedigree,
unaffected outsiders are assumed to be RR, homozygous
normal.
 5. Children of RR x Rr have a 1/2 chance of being RR and a
1/2 chance of being Rr. Note that any siblings who have an
rr child must be Rr.
 6. Unaffected children of Rr x Rr have a 2/3 chance of
being Rr and a 1/3 chance of being RR. 18
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Example of pedigree charts
1. Is it Autosomal or X-linked?
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Answer 1
• Autosomal
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Interpreting a pedigree
chart
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.
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Example of pedigree charts

2. Dominant or Recessive?
 Slide
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Answer 2
Dominant
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Example of pedigree charts

3. Dominant or Recessive?
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Answer 3
• Recessive
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Additional Symbols
 Slide

Queen Victoria 18

Descendants & Hemophilia

Pedigree
showing
inheritance of
hemophilia,
an X-linked
trait.
Many
descendants
in the 3rd &
4th
generations
omitted as no
mutant gene.
Offspring
whose status
is uncertain
are indicated
with a
question
mark.
 Slide
19
Problem 1
• In humans, albinism is a recessive trait.
• The disorder causes a lack of pigment
in the skin and hair.
• This results in an albino appearing very
pale with white hair and pale blue
eyes.
• This disorder also occurs in animals, a
common albino found in a laboratory is
the white rat.
• The pedigrees below trace the
inheritance of the allele that causes
albinism
Salif Keïta (born August 25, 1949) is an afro-pop singer-songwriter from Mali. He is unique not only
because of his reputation as the "Golden Voice of Africa" but because he has albinism and is a direct
descendant of the founder of the Mali Empire, Sundiata Keita.
 Problems
• 1. Given the following
genotypes, describe the
phenotypes (normal or
albino)
AA =
Aa =
aa =
• 2. Fill out the blanks on the
pedigree below.
Remember that gray
squares indicate that the
person has the two
recessive alleles (aa) and is
an albino
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Answers
1. Given the following
genotypes, describe the
phenotypes (normal or
albino)
• AA = normal
• Aa = normal
• aa = albino
aa Aa
2. Fill out the blanks on the
pedigree below. Remember
that gray squares indicate
that the person has the two
recessive alleles (aa) and Aa Aa aa
is an albino
• aa x Aa
• Aa, Aa, aa
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Problems
3. How many
children does this
family have?

4.What are the sexes

of the children?

5.Fill out the blanks

of the pedigree
below (AA, Aa, aa)
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Answers
3. How many
children does this Aa Aa
family have? 2
4.What are the sexes
of the children?
Female, Male aa Aa Aa
5.Fill out the blanks
of the pedigree
below (AA, Aa, aa)
aa Aa aa Aa
Or
aa
AA
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Problems
10. How many children
does the original couple
have?

11. How many

grandchildren?

12. What are the sexes of

the children?
 Slide
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Problems
10. How many children
does the original couple
have? 2

11. How many

grandchildren? 3

12. What are the sexes of

the children?
Female, Male
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Summary
• Pedigrees are family trees explaining 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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Additional Symbols
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Additional Symbols
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Homework
• Find out which family members (as many
as you can; siblings, parents,
grandparents, aunts, uncles, cousins,
great-grand parents, etc.) with listed
traits.
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Homework