1 / 22

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.

clancy
Download Presentation

Polydactyly

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  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?

More Related