Pedigrees and Karyotyping

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Pedigrees and Karyotyping

• Analyzing Inheritance Patterns and Chromosomes

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Pedigree Karyotype
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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

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Some History

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

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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.

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The Royal Family Tree
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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?

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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?

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German and Russian Influences
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Explore

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

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Karyotyping

• Analyzing Chromosomes

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EngageGenetic Disorders

• Patau Syndrome
• Edward Syndrome
• Klinfelters Syndrome
• Turner Syndrome
• Super Male Syndrome
• Super Female Syndrome

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47, XX or XY, 13

• serious eye, brain, circulatory defects as well
  as cleft palate. 15000 live births. Children
  rarely live more than a few months.
• Patau Syndrome

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Cleft Palate
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Edward Syndrome

• almost every organ system affected 110,000 live
  births. Children with full Trisomy 18 generally
  do not live more than a few months.

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Klinefelters Syndrome

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

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Turner Syndrome

• the ONLY viable monosomy

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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

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Explore 2

• Analyzing chromosomes of a normal male or female

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Normal Female
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Normal Male
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Explain
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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?

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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
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Disorders

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

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Nondisjunction
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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
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Elaborate

• Draw pedigrees from the given problems.

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The Royal Family Tree
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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.

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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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