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Polydactyly

Polydactyly. Brachydactyly. Human Pedigree Analysis. A child that has retinoblastoma. Manute Bol had Marfan Sydrome. Michael Phelps has Marfan Sydrome. Human Pedigree Analysis. Anatomy of a Pedigree. Male (left) Female (right). Affected individuals.

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Polydactyly

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  1. Polydactyly

  2. Brachydactyly

  3. Human Pedigree Analysis

  4. A child that has retinoblastoma

  5. ManuteBol had MarfanSydrome

  6. Michael Phelps has MarfanSydrome

  7. Human Pedigree Analysis

  8. Anatomy of a Pedigree Male(left) Female(right) Affected individuals Carriers (Heterozygotes for autosomal recessive) Deceased individuals Sex unspecified

  9. Anatomy of a Pedigree Generation Mating Adoption Siblings Identical twins Fraternal twins Consanguineous marriage

  10. Autosomal dominant (e.g., retinoblastoma) Affected parent (Aa) X Affected parent (Aa) A a A a

  11. Autosomal recessive (e.g., PKU) Unaffected parent (Aa) X Affected parent (aa) A a a a

  12. Autosomal Dominant(e.g., Huntington disease)

  13. Characteristics of a Dominant Pedigree • An affected individual has at least one affected parent • As a result, dominant traits show a vertical pattern of inheritance • the trait shows up every generation • Two affected individuals may have unaffected children A a A a a

  14. Autosomal Recessive(e.g., cystic fibrosis)

  15. Characteristics of Recessive Pedigrees • In pedigrees involving rare traits, a horizontal pattern of inheritance is observed • the trait may not appear in every generation • An individual who is affected may have parents who are not affected, particularly as a result of consagineousmatings • All the children of two affected individuals are affected a a a a

  16. Pedigree of a family with some members showing the Marfan Syndrome

  17. Marfan syndrome is

  18. Marfan syndrome is

  19. Issues with genetic screening • Why carry out genetic screening at all? • When is a test accurate and comprehensive enough to be used as the basis for screening? • Once an accurate test becomes available at reasonable cost, should screening become required or optional? • If a screening program is established, who should be tested? • Should private companies and insurance companies have access to employees and client test results? • What education needs to be provided regarding test results?

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