Genetic Pedigree Interpretation

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Genetic Pedigree Chart Interpretation
Presentation · May 2023
DOI: 10.13140/RG.2.2.33160.29444
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Mohammed Hussein Assi
Al-Mustansiriya University
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Pedigree Charts
The Family Tree of Genetics
Dr. Mohammed Hussein

M.B.Ch.B, MSC, PhD, DCH (UK), MRCPCH
Mendelian Disorders
1. Autosomal Dominant Disorders

2. Autosomal Recessive Disorders
3. X-linked Dominant Disorders
4. X-linked Recessive Disorders
Over 6000 disorders have been described

Autosomal Dominant Inheritance
Normal Affected Homozygous Affected
Usually
Fatal
Autosomal dominant inheritance
• Every affected individual has an affected

parent
• 50% chance of inheriting the abnormal gene

from affected parent
Examples of autosomal dominant disorders
Autosomal dominant disorders often affect structural proteins
• Familial hypercholesterolemia
• Achondroplasia (Dwarfism)
• Marfan syndrome
• Osteogenesis Imperfecta (brittle bone disease)
• Ehlers–Danlos syndrome
• Neurofibromatosis
• Myotonic dystrophy
• Huntington disease
• Noonan syndrome
• Otosclerosis
• Polyposis coli
• Tuberous sclerosis
Autosomal Recessive Inheritance
Normal Normal Affected
Carrier
Autosomal recessive inheritance
• Disease transmitted from two unaffected

(carrier) parents
• Two carrier parents have a 25% risk of having an

affected child
• Risk of these disorders is increased by

consanguinity and within specific populations
Autosomal recessive inheritance
• Skipped generations
Examples of autosomal recessive disorders
Autosomal dominant disorders often affect metabolic pathways
• Thalassemia
• Sickle cell disease
• Cystic fibrosis
• Phenylketonuria
• Galactosaemia
• Glycogen storage diseases
• Tay–Sachs disease
• Hurler syndrome
• Congenital adrenal hyperplasia
• Friedreich ataxia
• Oculocutaneous albinism
• Werdnig–Hoffmann disease (SMA I)
X-linked Recessive Inheritance
Seen much more commonly in males than in females
Exp: Hemophilia A in Baghdad-2019 ( 97% males, 3% females)
Females Males
Normal Unaffected Homozygous
Carrier affected Normal Affecte
d
Very rare
Usually
fatal
X-linked recessive inheritance
• 50% of sons are affected
• 50% of daughters are carrier

X-linked recessive inheritance
• All daughters are carrier
• All sons are normal

No male-to-male transmission
Examples of x-linked recessive disorders
• G6PD deficiency
• Hemophilia A and B
• Duchenne muscular dystrophy
• Becker muscular dystrophy
• Fragile X syndrome
• Hunter syndrome
• Colour blindness
X-linked dominant inheritance
Seen much more commonly in females than in males
Females Males
Homozygous
Normal Affecte Normal Affecte
affected
d d
Very rare
Usually
fatal
• 50% daughters are affected
• 50% sons are affected

• All daughters are affected
• All sons are normal No male-to-male transmission

Examples of X-linked dominant disorders
• Vitamin D resistant rickets (X-linked hypophosphatemia)

• Rett syndrome
• Fragile-X Syndrome
• Alport syndrome
• Incontinentia pigmenti
Pedigree Chart
 Is a chart that diagrams the inheritance of a trait or health
condition through generations of a family.
 Essential part of genetic evaluation
Male Affected
Male
Female Affected Female
Unrelated marriage Consanguineous marriage

Generation I
Generation II
Generation II
Generation I
Generation II
Generation III
Generation I
Generation II
Generation II
Generation I
Generation II
Generation II
Determining the Mode of Inheritance in a
Pedigree
1st Determine if the inheritance is Dominant or Recessive?
2nd Determine if the inheritance is Autosomal or X-linked?

1st Determine if the inheritance is Dominant or Recessive?
Multiple generations affected Skipped generations

Dominant Recessive
Recessive
Only (or almost only) males are affected?
Yes No
X-linked Recessive Autosomal Recessive

Dominant
Q.1: Is there male to male transmission?
Q.2: Are all daughters of an affected male affected?
Q.1→Yes Q.1→No
Q.2→Yes
Autosomal Dominant X-linked Dominant
Skipped generations → Recessive
Autosomal Recessive X-linked Recessive

Multiple generations → Dominant
Autosomal Dominant X-linked Dominant

Mitochondrial Inheritance
Pedigrees for mitochondrial diseases display a distinct mode of inheritance:
1. Transmission of the disease is only from a female.

2. All offspring of an affected female are affected.
3. None of the offspring of an affected male is affected.
Autosomal Dominant
X-linked Recessive
X-linked Dominant
Autosomal Recessive
Mitochondrial
Autosomal Dominant
Incomplete Penetrance
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Dr. Mohammed Hussein

1. Autosomal Dominant Disorders

Over 6000 disorders have been described

Normal Affected Homozygous Affected

• Every affected individual has an affected

• 50% chance of inheriting the abnormal gene

Normal Normal Affected

• Disease transmitted from two unaffected

• Two carrier parents have a 25% risk of having an

• Risk of these disorders is increased by

• 50% of sons are affected

• 50% of daughters are carrier

• All daughters are carrier

• All sons are normal

• 50% daughters are affected

• 50% sons are affected

• All daughters are affected

• All sons are normal No male-to-male transmission

• Vitamin D resistant rickets (X-linked hypophosphatemia)

Female Affected Female

Unrelated marriage Consanguineous marriage

2nd Determine if the inheritance is Autosomal or X-linked?

Multiple generations affected Skipped generations

X-linked Recessive Autosomal Recessive

Autosomal Recessive X-linked Recessive

Autosomal Dominant X-linked Dominant

Pedigrees for mitochondrial diseases display a distinct mode of inheritance:

1. Transmission of the disease is only from a female.

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