Pedigree Analysis Biology 103

Pedigree Analysis
Biology 103
The key
Male
Female
Offspring
Affected
Unaffected
In Words…
• Males are represented by squares.
• Females are represented by circles.
• Affected individuals are darker than
unaffected individuals.
• Mating is represented by a horizontal
line between two individuals.
• Offspring is represented by a vertical
line from a mating line.
Individuals
Label each of the following as either
(a) male or female
(b) Affected or unaffected
1. Generation I; Individual 1
2. Generation II; Individual 4
3. Generation II; Individual 7
4. Generation III; Individual 1
3 Patterns of
Inheritance
• Autosomal Dominant
• Autosomal Recessive
• X-Linked Recessive
Autosomal Dominant
Affected gene is on the autosome.
Affected allele is dominant.
A=affected allele
a=normal allele
AA=affected
Aa=affected
aa=normal
Autosomal Recessive
Affected gene is on the autosome.
Affected allele is recessive.
A=normal allele
a=affected allele
AA=normal
Aa=normal/carrier
aa=affected
X-Linked Recessive
Females
Males
Questions to ask yourself!
1. Do you have an affected child with
unaffected parents?
yes: pattern of inheritance is recessive;
go to question #2
no: pattern of inheritance is autosomal
dominant
2. Are there more males affected than
females?
yes: pattern of inheritance is
X-Linked Recessive
no: pattern of inheritance is
Autosomal Recessive
Is the pedigree below Autosomal
Dominant, Autosomal Recessive, or XLinked Recessive?
Autosomal Dominant
(no affected children with unaffected parents)
What are the genotypes for the following
individuals?
Generation I; Individual 1:
Generation II; Individual 6:
Generation III; Individual 4:
Aa
Aa aa aa
Aa aa
aa
aa
Aa
aa
aa aa
aa
Aa aa
aa
Aa
Aa aa
What are the genotypes for the following
individuals?
Generation I; Individual 1: Aa
Generation II; Individual 6: aa
Generation III; Individual 4: aa
Is the following pedigree autosomal
dominant, autosomal recessive, or xlinked recessive?
Autosomal Recessive
(affected child with normal parents)
What are the genotypes for the following?
Generation I; Individual 2:
Generation II; Individual 1:
Autosomal Recessive
(affected child with normal parents)
Aa
Aa
aa
Aa
Aa
Aa
Aa
Aa
Aa
Aa
Aa
Aa
Aa
Aa
Aa
Aa
aa
What are the genotypes for the following?
Generation I; Individual 2: Aa
Generation II; Individual 1: aa
Autosomal Recessive
(affected child with normal parents)
Is the pedigree below autosomal
dominant, autosomal recessive, or XLinked recessive?
X-Linked Recessive
(affected child with normal parents &
more males are affected)
What are the genotypes for the following?
Generation I; Individual 1:
Generation II; Individual 1:
Generation III; Individual 3:
What are the genotypes for the following?
Generation I; Individual 1: XaY
Generation II; Individual 1: XAY
Generation III; Individual 3: XAXA or
XAXa
Autosomal Dominant Disorders
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Tuberous sclerosis
Marfan syndrome
Neurofibromatosis
Huntington's disease
Retinoblastoma
Waardenburg syndrome
Myotonic dystrophy
Familial
hypercholestrolemia (LDL
receptor defect Type IIa)
Adult polycystic kidney
disease
von Hippel Lindau
Familial adenomatous
polyposis and Peutz Jeghers
Syndrome
•Hereditory spherocytosis
•Achondroplasia
•Ehlor's Danlos (vascular type)
•Acute intermittent porphyria
•Hypertrophic Obstructive
Cardiomyopathy (HOCM)
•Von Willebrand Disease
•Polydactyly
•Osteogenesis Imperfecta (Except
Type VII)
•Hereditary hemorrhagic
telengiactasia (Osler-weber-rendu
syndrome)
•Osteopetrosis Type II (Adult type)
•Hypokalemic Periodic Paralysis
Autosomal Recessive
Disorders
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Abetalipoproteinemia.
Acute fatty liver of pregnancy.
Alkaptonuria.
Bernard-Soulier syndrome.
Bloom syndrome.
Carpenter syndrome.
Chediak-Higashi syndrome.
Chondrodystrophy.
CAH.
Congenital hepatic fibrosis.
Cystic Fibrosis.
Cystinosis, Cystinuria.
Dubin-Johnson syndrome.
Endocardial Fibroelastosis.
Familial Mediterranean Fever.
Fanconi Anemia.
•Friedrech's Ataxia.
•Gastroschisis.
•Gaucher's disease.
•Glanzman's Thromasthenia.
•Glycogen storage diseases.
•Hartnup Disease.
•Krabbe Disease.
•Leukocyte Adhesion Defect.
•Nieman Pick Disease.
•Rotor syndrome.
•Shwaman Diamond syndrome.
•Situs Inversus.
•Sickle cell Disease and Trait.
•Tay-Sachs.
•Thalasemia.
•Werner syndrome.
•Wilson's Disease.
•Xeroderma pigmentosa.
X-Linked Recessive
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Lesch-Nyhan Syndrome
Duchene Muscular Dystrophy
Hunter's Disease
Menkes Disease (Kinky hair syndrome)
Glucose 6 Phosphate Dehydrogenase Deficiency
Hemophilia A and B
Fabry's Disease
Wiskott-Aldrich Syndrome
Bruton's Aggamaglobulinemia
Color Blindness
Complete Androgen Insensitivity
Congenital Aqueductal stenosis (hydrocephalus)
Inherited Nephrogenic Diabetes Insipidus