1. Pedigree Analysis
Biology 103

2. The key
Mating
Male
Female
Offspring
Affected
Unaffected

3. 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.

4. Generations
Individuals

5. Label each of the following as either (a) male or female
(b) Affected or unaffected
Generation I; Individual 1
Generation II; Individual 4
Generation II; Individual 7
Generation III; Individual 1

6. 3 Patterns of Inheritance
Autosomal Dominant
Autosomal Recessive
X-Linked Recessive

7. Autosomal Dominant
Affected gene is on the autosome. Affected allele is dominant. A=affected allele a=normal allele
AA=affected
Aa=affected
aa=normal

8. 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

9. X-Linked Recessive
Females
Males

10. Questions to ask yourself!
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

11. (no affected children with unaffected parents)
Is the pedigree below Autosomal Dominant, Autosomal Recessive, or X-Linked Recessive?
Autosomal Dominant
(no affected children with unaffected parents)

12. What are the genotypes for the following individuals
What are the genotypes for the following individuals? Generation I; Individual 1: Generation II; Individual 6: Generation III; Individual 4:

13. Aa aa Aa aa aa aa aa aa Aa Aa aa aa aa aa Aa aa Aa aa Aa

14. What are the genotypes for the following individuals
What are the genotypes for the following individuals? Generation I; Individual 1: Aa Generation II; Individual 6: aa Generation III; Individual 4: aa

15. (affected child with normal parents)
Is the following pedigree autosomal dominant, autosomal recessive, or x-linked recessive?
Autosomal Recessive
(affected child with normal parents)

16. (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)

17. Aa Aa aa Aa Aa Aa Aa Aa Aa Aa Aa Aa Aa Aa Aa Aa aa

18. (affected child with normal parents)
What are the genotypes for the following? Generation I; Individual 2: Aa Generation II; Individual 1: aa
Autosomal Recessive
(affected child with normal parents)

19. (affected child with normal parents & more males are affected)
Is the pedigree below autosomal dominant, autosomal recessive, or X-Linked recessive?
X-Linked Recessive
(affected child with normal parents & more males are affected)

20. What are the genotypes for the following
What are the genotypes for the following? Generation I; Individual 1: Generation II; Individual 1: Generation III; Individual 3:

21. What are the genotypes for the following
What are the genotypes for the following? Generation I; Individual 1: XaY Generation II; Individual 1: XAY Generation III; Individual 3: XAXA or XAXa

22. Autosomal Dominant Disorders
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

23. Autosomal Recessive Disorders
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.

24. X-Linked Recessive 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