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Pedigrees and Karyotyping

Pedigrees and Karyotyping . Analyzing Inheritance Patterns and Chromosomes. Pedigree Karyotype. Engage. Sex-Linked Recessive – Hemophilia “The Royal Disease”

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Pedigrees and Karyotyping

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  1. Pedigrees and Karyotyping Analyzing Inheritance Patterns and Chromosomes

  2. Pedigree Karyotype

  3. Engage Sex-Linked Recessive – Hemophilia “The Royal Disease” Read the short story Alexis: The Prince Who Had Hemophilia –by:-Kelley, Laureen A.Set in the early 1900s, this is the story of the youngest child of Tsar Nicholas II of Russia, last Tsar of Russia. The story includes how Alexis's hemophilia influenced the course of events in Russia that led to the Russian Revolution

  4. Some History • Hemophilia has played an important role in Europe's history • The disease began to crop up in Great Britain's Queen Victoria’s children • It became known as the "Royal disease" because it spread to the royal families of Europe through Victoria's descendants

  5. How it Spread • it spread through the Royal Houses of Europe as monarchs arranged marriages to consolidate political alliances. • We can trace the appearance of hemophilia as it popped up in Spain, Russia, and Prussia by looking at the family tree.

  6. The Royal Family Tree

  7. Queen Victoria's son Leopold's Family • His daughter, Alice of Athlone, had one hemophilic son (Rupert) and two other children -- a boy and a girl -- whose status is unknown. • What is the chance that her other son was hemophilic? • What is the probability that her daughter was a carrier? hemophiliac?

  8. The Spanish Connection • Now for the Spanish connection: Victoria's youngest child, Beatrice, gave birth to one daughter, one normal son, and two hemophilic sons. • Looking at the pedigree of the royal family, identify which of Beatrice's children received the hemophilic gene; why can you make this conclusion? Notice that Beatrice's daughter, Eugenie, married King Alfonso XIII of Spain and had six children, one of whom was the father of Juan Carlos, the current King of Spain. • Would you predict that Juan Carlos was normal, a carrier, or a hemophilic?

  9. German and Russian Influences

  10. Explore • Explore 1 • Sex-Linked Inheritance • Explore 2 • What Do You Know About Diabetes?

  11. Karyotyping • Analyzing Chromosomes

  12. EngageGenetic Disorders • Patau Syndrome • Edward Syndrome • Klinfelter’s Syndrome • Turner Syndrome • Super Male Syndrome • Super Female Syndrome

  13. 47, XX or XY, +13 • serious eye, brain, circulatory defects as well as cleft palate. 1:5000 live births. Children rarely live more than a few months. • Patau Syndrome

  14. Cleft Palate

  15. Edward Syndrome • almost every organ system affected 1:10,000 live births. Children with full Trisomy 18 generally do not live more than a few months.

  16. Klinefelter’s Syndrome • Male sex organs; unusually small testes, sterile. Breast enlargement and other feminine body characteristics. Normal intelligence.

  17. Turner Syndrome • the ONLY viable monosomy

  18. Super Male and Super Female • - Has an XXX- Fertile females with normal intelligence • Has an XYY- Tall male with heavy acne- Some tendency to mental retardation • Aggressive tendency

  19. Explore 2 • Analyzing chromosomes of a normal male or female

  20. Normal Female

  21. Normal Male

  22. Explain

  23. Questions • How many chromosomes come from your Father? • How many chromosomes come from your Mother? • What are chromosome pairs 1-22 called? • What is chromosome pair 23 called?

  24. Parts of a chromosome • All human chromosomes have two arms • the short arm is referred to as the ____ arm (petite) • the long arm as the ___arm P Q

  25. Disorders • Name 3-4 diseases caused by a chromosomal abnormality. • What most often causes this abnormal number of chromosomes?

  26. Nondisjunction

  27. Terms to Know • If either of these gametes unites with another during fertilization, the result is ________________ (any abnormal chromosome number) • A _____________cell has one extra chromosome (2n +1). • A ___________ cell has one missing chromosome (2n - 1) Aneuploidy Trisomy Monosomy

  28. Elaborate • Draw pedigrees from the given problems.

  29. The Royal Family Tree

  30. Elaborate 2 • Clues From the Karyotype • You will become a geneticists by identifying, organizing and studying human chromosomes to determine if any chromosomal disorder is present in your patient.

  31. Evaluate • Without any assistance, identify 4 of the 6 karyotypes with the correct disorder, male or female, and normal or abnormal.

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