202003291612342405monisha Pedigree Analysis

Pedigree Analysis
Dr. Monisha Banerjee

Professor
Molecular & Human Genetics Lab
Department of Zoology
University of Lucknow
Lucknow
What is a Pedigree?
 A pedigree is a
pictorial representation I
of a family history. 1 2
 It is an important tool II
1 2 3 4 5
for studying inherited
diseases and other III
1 2 3 4 5 6 7 8 9
traits.
 Pedigree analysis uses IV
1 2 3 4 5 6
family trees and
information about
affected individuals .
Most common signs and symbols
used in pedigree analysis
A Typical Pedigree
Mating
Normal Normal
I Female
Male
1st born
II
Affected
Siblings
Basic patterns of inheritance
• Autosomal, recessive
• Autosomal, dominant
• X-linked, recessive
• X-linked, dominant (very rare)
• Y-linked
Autosomal vs. sex-linked traits
Autosomal traits are caused by genes on

autosomes (chromosome #1- #22)
e.g., we speak of autosomal recessive or
autosomal dominant traits or diseases.
Sex-linked traits are caused by genes on
the sex chromosome (X or Y)
e.g., we speak of X-linked recessive or X-
linked dominant traits or diseases.
Recessive inheritance
If d is the disease allele and D is

normal, then only dd genotypes
are affected
Typically not seen in every
generation
Affected offspring can be born to
unaffected parents
Dominant inheritance
If D is the disease allele and d is
normal, then only dd genotypes are
disease free*
Dominant trait/disease found in every
generation*
Affected offspring never** born to
unaffected parents
*Assuming 100% penetrance

**Assuming no new mutation
Autosomal recessive
Trait is rare in
pedigree
Trait often skips

generations (hidden
in heterozygous
carriers)
Trait affects males

and females equally
Autosomal recessive diseases in humans
Most common ones

• Cystic fibrosis
• Sickle cell anemia
• Phenylketonuria (PKU)
• Tay-Sachs disease
Autosomal dominant
Trait is common in the pedigree.

Trait is found in every generation.
 Appears in both sexes in equal frequency.
Affected individuals transmit the trait to ~1/2 of their
children (regardless of sex).
Autosomal Dominant disease in humans
ACHONDROPLASIA
(a sketelal disorder causing dwarfism)
Huntington’s disease
X-linked recessive
Trait is rare in pedigree.

Trait skips generations.
Affected sons are usually born
to unaffected but carrier
mothers.
Affected fathers DO NOT pass
trait to their sons.
Males are more often affected
than females.
Female carrier mates with normal male
Sperm
Fx M X-linked
XNXA XNY XN Y recessive
disease
XN
F M
XNXN XNY
normal normal
Eggs
XA
F M
XAXN XAY
carrier affected
Half* her daughters will be carriers

Half* her sons will be affected
X-linked recessive diseases
 Hemophilia in European royalty
Duchenne Muscular Dystrophy
Glucose-6-Phosphate Dehydrogenase deficiency

Partial pedigree analysis of haemophilia in royal
families of Europe
Only males develop the disease!

X-linked dominant
Trait is found in every
generation
 Affected sons must have an
affected mother
Affected mother if
heterogygous will pass the
trait to ½ of the sons and ½
of their daughters
Affected fathers pass trait to
ALL of their daughters
Males and females are
equally likely to be affected
X-linked dominant disease
Affected males mates with normal females
Sperm
FxM
XNXN XAY XA Y
XN
F M
XNXA XNY
affected normal
Eggs
XN
F M
XNXA XNY
affected normal
• All his daughters will be affected

• None of his sons will be affected
X-linked dominant diseases
X-linked dominant diseases are extremely

unusual
Often, they are lethal (before birth) in males
and only seen in females
eg. Incontinentia pigmenti (skin lesions)
eg. X-linked rickets (bone lesions)
eg. Hypophosphatemia
Y-Linked Inheritance
 Traits are found in every

generation
 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).
Goals of Pedigree Analysis
 Determine the mode of inheritance:
dominant, recessive, partial dominance,
sex-linked, autosomal, mitochondrial,
maternal effect.
 Predict the risk of disease in future

offspring in a family (genetic counseling).
Thank you

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Pedigree Analysis

Dr. Monisha Banerjee

Autosomal traits are caused by genes on

If d is the disease allele and D is

*Assuming 100% penetrance

Trait often skips

Trait affects males

Most common ones

Trait is common in the pedigree.

Trait is rare in pedigree.

Half* her daughters will be carriers

Glucose-6-Phosphate Dehydrogenase deficiency

Only males develop the disease!

• All his daughters will be affected

X-linked dominant diseases are extremely

 Traits are found in every

 Predict the risk of disease in future

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