Pedigrees and Karyotyping

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

Text of Pedigrees and Karyotyping

  • Pedigrees and Karyotyping Analyzing Inheritance Patterns and Chromosomes

  • Pedigree Karyotype

  • EngageSex-Linked Recessive HemophiliaThe 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

  • Some HistoryHemophilia has played an important role in Europe's historyThe disease began to crop up in Great Britain's Queen Victorias childrenIt became known as the "Royal disease" because it spread to the royal families of Europe through Victoria's descendants

  • How it Spreadit 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.

  • The Royal Family Tree

  • 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?

  • The Spanish ConnectionNow 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?

  • German and Russian Influences

  • ExploreExplore 1Sex-Linked InheritanceExplore 2What Do You Know About Diabetes?

  • KaryotypingAnalyzing Chromosomes

  • EngageGenetic DisordersPatau SyndromeEdward SyndromeKlinfelters SyndromeTurner SyndromeSuper Male SyndromeSuper Female Syndrome

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

  • Cleft Palate

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

  • Klinefelters SyndromeMale sex organs; unusually small testes, sterile. Breast enlargement and other feminine body characteristics. Normal intelligence.

  • Turner Syndromethe ONLY viable monosomy

  • Super Male and Super Female- Has an XXX - Fertile females with normal intelligenceHas an XYY - Tall male with heavy acne - Some tendency to mental retardationAggressive tendency

  • Explore 2Analyzing chromosomes of a normal male or female

  • Normal Female

  • Normal Male

  • Explain

  • QuestionsHow 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?

  • Parts of a chromosomeAll human chromosomes have two armsthe short arm is referred to as the ____ arm (petite)the long arm as the ___ armPQ

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

  • Nondisjunction

  • Terms to KnowIf 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 TrisomyMonosomy

  • ElaborateDraw pedigrees from the given problems.

  • The Royal Family Tree

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

  • EvaluateWithout any assistance, identify 4 of the 6 karyotypes with the correct disorder, male or female, and normal or abnormal.