Pedigree Charts

The family tree of genetics

Dr. Abdulmonam Saleh

 Objectives
1. Draw a family pedigree chart.
2. Describe particular traits (propositus …).
3. Identify differences between homozygous
and heterozygous trait.
4. Outline indication of performing pedigree
charts.
5. Interpret results obtained from pedigree
charts.
6. Estimate risk analysis of genetic
disorders.
 Overview
I. What is a pedigree?
a. Definition
b. Uses
II. Constructing a pedigree
a. Symbols
b. Connecting the symbols
III. Interpreting a pedigree
 What is a Pedigree?

A pedigree is a chart of the genetic

history of family over several
generations.

 Scientistsor a genetic counselor would

find out about your family history and
make this chart to analyze.
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
Pedigree Charts

II

III
 Other common
signs and symbols
used in pedigree
analysis
 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.
 Interpreting a Pedigree Chart
2. 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.
Human Genetics: Karyotypes

46 TOTAL 46 TOTAL
Chromosomes

23 23
homologous homologous
pairs pairs
 What is the difference between an Autosome
and a Sex-chromosome?

• Autosomes are the first 22

homologous pairs of human
chromosomes that do not
influence the sex of an
individual.

• Sex Chromosomes are the 23rd

pair of chromosomes that
determine the sex of an
individual.
 Autosomal Traits
• Genes located on Autosomes control
Autosomal traits and disorders.

2 Types of Traits:
• Autosomal Dominant
• Autosomal Recessive
 Autosomal Recessive Traits
• In order to express the trait, two recessive alleles
must be present.

• What would be the genotype of an individual with an

autosomal recessive trait? (A = dominant)
– aa

• What would be the genotype of an individual

without the autosomal recessive trait?
– AA or Aa
– Aa – called a Carrier because they carry the
recessive allele and can pass it on to offspring, but
they do not express the trait.
 Autosomal Dominant Traits
• If dominant allele is present on the autosome, then
the individual will express the trait.

• What would be the genotype of an individual with an

autosomal dominant trait?
– AA and Aa (Heterozygotes are affected)

• What would be the genotype of an individual

without the autosomal dominant trait?
– aa
 Sex-Linked Traits
• Sex-linked traits are produced by genes only on the X
chromosome.
– They can be Dominant or Recessive.

• What would be the genotypes of a male and female that have a

Sex-linked Dominant trait ?
• Expresses Trait: Male - XA Y Female - XA XA or XA Xa
• No Expression: Male - Xa Y Female - Xa Xa

• What would be the genotypes of a male and female that have a

Sex-linked Recessive trait ?
• Expresses Trait: Male - Xa Y Female - Xa Xa
• No Expression: Male - XA Y Female - XA XA or XA Xa
(Carrier)

• Most Sex-linked traits are Recessive!

How does it
happen?

Affected
Genotypes:
XbXb
XbY
How does it
happen?

Affected
Genotypes:
XhXh
XhY
 Pedigree Analysis
• A pedigree shows the relationship between parents
and children over the generations and how a trait is
passed down from one generation to the next.
 How to Construct a Pedigree?
• A Pedigree is a visual showing the pattern of
inheritance for a trait. (Family tree)

• Symbols and Rules:

• Male = Female =
• Affected = Unaffected = Carrier =
• Link parents together with a line and then
make a vertical line to connect to offspring.
 Autosomal Dominant Pedigree
• Draw a Pedigree showing a cross between
Heterozygous parents that have 2 boys and 2
girls. (Show all possibilities)
Genotypes of Affected and Unaffected:
• AA and Aa = Affected aa = Unaffected
Aa Aa

aa Aa Aa AA
 Autosomal Recessive Pedigree
• Draw a Pedigree showing a cross between
Heterozygous parents that have 2 boys and 2
girls. (Show all possibilities)
Genotypes of Affected and Unaffected:
• AA=Unaffected Aa=Carrier, Unaffected
aa=Affected
Aa Aa

aa Aa Aa AA
 Sex-Linked Recessive Pedigree
• Draw a Pedigree showing a cross between a normal
male and a Carrier Female.
• Genotypes of Parents:
• Male = Xr Y Female = XR Xr

XRY XR
Xr

XRY X rY XRXR XRXr

Characteristics of Autosomal Dominant, Autosomal
Recessive, and Sex-linked Recessive Traits

• In groups, analyze your notes on each type of

disorder and examine the pedigrees.

• Come up with rules/characteristics for each

type of Trait.
 Types of Pedigrees: Recessive

Affected Genotypes: bb

Unaffected Genotypes: BB or Bb

HINT: Recessive Disorders skip

generations
 Types of Pedigrees: Sex-linked
Affected Genotypes:
XbXb or XbY

Unaffected Genotypes:
XBXB or XBXb and XBY

HINT: Mainly males are affected

 Types of Pedigrees: Dominant

Affected Genotypes: BB or Bb

Unaffected Genotypes: bb
 Autosomes

Autosomes:
Any
chromosome
that’s not a sex
chromosome

•44 Autosomes
•22 pairs of
Autosomes
 Autosomal Recessive Traits
• Heterozygotes are Carriers with a normal phenotype.
• Most affected children have normal parents. (Aa x Aa)
• Two affected parents will always produce an affected child.
(aa x aa)
• Two unaffected parents will not produce affected children
unless both are Carriers. (AA x AA, AA x Aa)
• Affected individuals with homozygous unaffected mates will
have unaffected children. (aa x AA)
• Close relatives who reproduce are more likely to have affected
children.
• Both males and females are affected with equal frequency.
• Pedigrees show both male and female carriers.
 Autosomal Dominant Traits
• Heterozygotes are affected
• Affected children usually have affected parents.
• Two affected parents can produce an unaffected
child. (Aa x Aa)
• Two unaffected parents will not produce affected
children. (aa x aa)
• Both males and females are affected with equal
frequency.
• Pedigrees show no Carriers.
 Examples of Sex-Linked Recessive Disorders

• Red/Green Colorblindness – Difficulty perceiving differences between

colors (red or green, blue or yellow).
• Hemophilia – Absence of one or more proteins necessary for normal
blood clotting.
• Deafness
• Cataracts – opacity in the lens that can lead to blindness
• Night blindness – (Nyctalopia) rods do not work so that can not see in the
dark
• Glaucoma – pressure in the eye that can lead to optic nerve damage and
blindness
• Duchenne Muscular Dystrophy – progressive weakness and degeneration
of skeletal muscles that control movement due to absence of dystrophin
(protein that maintains muscle integrity). Mainly in boys, onset 3-5 yrs, by
12 years can’t walk, and later needs respirator.
 Sex-Linked Disorder
Linked to sex chromosomes

Recessive Disorders – caused

by recessive alleles
 Sex-Linked Recessive Traits
• More males than females are affected.
• An affected son can have parents who have the
normal phenotype. (XAY x XAXa)
• For a daughter to have the trait, her father must also
have it. Her mother must have it or be a carrier.
(XaY, XaXa, XAXa)
• The trait often skips a generation from the
grandfather to the grandson.
• If a woman has the trait (XaXa), all of her sons will be
affected.
• Pedigrees show only female carriers but no male
carriers.
 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.
 What is a Pedigree???

Diagram showing a family tree and patterns of

inheritance.