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. 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? 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? Generation I; Individual 1: Aa Generation II; Individual 6: aa Generation III; Individual 4: aa

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

16. 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. 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. 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? Generation I; Individual 1: Generation II; Individual 1: Generation III; Individual 3:

21. 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 • Hereditoryspherocytosis • Achondroplasia • Ehlor'sDanlos (vascular type) • Acute intermittent porphyria • Hypertrophic Obstructive Cardiomyopathy (HOCM) • Von Willebrand Disease • Polydactyly • OsteogenesisImperfecta (Except Type VII) • Hereditary hemorrhagic telengiactasia (Osler-weber-rendu syndrome) • Osteopetrosis Type II (Adult type) • Hypokalemic Periodic Paralysis • 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 HippelLindau • Familial adenomatouspolyposis and PeutzJeghers Syndrome

23. Autosomal Recessive Disorders • Friedrech's Ataxia. • Gastroschisis. • Gaucher's disease. • Glanzman'sThromasthenia. • Glycogen storage diseases. • Hartnup Disease. • Krabbe Disease. • Leukocyte Adhesion Defect. • Nieman Pick Disease. • Rotor syndrome. • Shwaman Diamond syndrome. • SitusInversus. • Sickle cell Disease and Trait. • Tay-Sachs. • Thalasemia. • Werner syndrome. • Wilson's Disease. • Xerodermapigmentosa. • 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. • EndocardialFibroelastosis. • Familial Mediterranean Fever. • Fanconi Anemia.

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'sAggamaglobulinemia • Color Blindness • Complete Androgen Insensitivity • Congenital Aqueductalstenosis (hydrocephalus) • Inherited Nephrogenic Diabetes Insipidus