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Pedigrees and Karyotypes

Pedigrees and Karyotypes. Pedigree. A chart that shows the presence or absence of a trait according to the relationships within a family across generations. A square represents a male. A circle represents a female. A vertical line and a bracket connect the parents to their children.

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Pedigrees and Karyotypes

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  1. Pedigrees and Karyotypes

  2. Pedigree • A chart that shows the presence or absence of a trait according to the relationships within a family across generations A square represents a male. A circle represents a female. A vertical line and a bracket connect the parents to their children. A horizontal line connecting a male and female represents a marriage. A half-shaded circle or square indicates that a person is a carrier of the trait. A circle or square that is not shaded indicates that a person neither expresses the trait nor is a carrier of the trait. A completely shaded circle or square indicates that a person expresses the trait.

  3. Modes of Inheritance • Autosomal Dominant • Ex Achondroplasia Dwarfism, Huntington’s Disease, Inherited colon & breast cancer, hypercholesterolemia • Autosomal Recessive • Ex Sickle Cell Disease, Cysic Fibrosis, Phenylketonuria (PKU), Recessive blindness, Tay Sachs

  4. Modes of Inheritance • X-linked Dominant • Ex Hypophosphatemic rickets, Rett Syndrome, Incontinentiapigmenti (lethal in males), congenital generalized hypertrichosis (wolf man syndrome) • X-linked Recessive • Ex Dushene Muscular Dystrophy, hemophilia, color blindness

  5. Autosomal Dominant • Transmitted directly from one generation to the next. • Males and Females affected equally • NEVER SKIPS A GENERATION • Never any carriers

  6. Autosomal Recessive • Only expressed when in homozygous form • Males and females affected equally • May skip many generations before showing up • ¼ chance being affected when carriers mate

  7. X-linked Dominant • Females affected more frequently • Daughters of affected males : 100% chance & sons: unaffected • Offspring of affected females : 50% chance

  8. X-linked Recessive • Males affected more frequently because they only have one X chromosome • Typical transmission from carrier female

  9. X-linked Recessive Continued • Sometimes carriers are not depicted on the pedigree

  10. What mode of Inheritance?

  11. What Mode of Inheritance? Cystic Fibrosis

  12. What Mode of Inheritance Huntington’s Disease

  13. What Mode of Inheritance? Hypertrichosis

  14. What Mode of Inheritance? Sickle Cell Anemia

  15. What Mode of Inheritance? Duchenne Muscular Dystrophy

  16. What Mode of Inheritance? Tay-Sachs

  17. Karyotypes

  18. Definition A karyotype is the characteristic chromosome match (or complement) of a eukaryote species

  19. Human Male

  20. Human Female

  21. Human Gametes

  22. Down Syndrome

  23. Klinefelter Syndrome

  24. Turner Syndrome

  25. What is Wrong Here?

  26. Dog Karyotype

  27. Mouse Karyotype

  28. Chromosome Number By Species

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