Pedigrees and Pedigrees and Karyotyping Karyotyping

Analyzing Inheritance Analyzing Inheritance Patterns and Chromosomes Patterns and Chromosomes

Pedigree Pedigree KaryotypeKaryotype

EngageEngageSex-Linked Recessive – HemophiliaSex-Linked Recessive – Hemophilia

““The Royal Disease” The Royal Disease” Read the short story Read the short story Alexis: The Prince Who Had Alexis: The Prince Who Had

Hemophilia Hemophilia –by:-Kelley, Laureen A.–by:-Kelley, Laureen A.Set in the early 1900s, this is the story of the Set in the early 1900s, this is the story of the

youngest child of Tsar Nicholas II of Russia, last Tsar youngest child of Tsar Nicholas II of Russia, last Tsar of Russia. The story includes how Alexis's hemophilia of Russia. The story includes how Alexis's hemophilia influenced the course of events in Russia that led to influenced the course of events in Russia that led to

the Russian Revolution the Russian Revolution

Some HistorySome History

Hemophilia has played Hemophilia has played an important role in an important role in Europe's historyEurope's history

The disease began to The disease began to crop up in Great crop up in Great Britain's Queen Britain's Queen Victoria’s childrenVictoria’s children

It became known as the It became known as the "Royal disease" because "Royal disease" because it spread to the royal it spread to the royal families of Europe families of Europe through Victoria's through Victoria's descendants descendants

How it SpreadHow it Spread it spread through the it spread through the

Royal Houses of Royal Houses of Europe as monarchs Europe as monarchs arranged marriages arranged marriages to consolidate to consolidate political alliances. political alliances.

We can trace the We can trace the appearance of appearance of hemophilia as it hemophilia as it popped up in Spain, popped up in Spain, Russia, and Prussia by Russia, and Prussia by looking at the family looking at the family tree. tree.

The Royal Family TreeThe Royal Family Tree

Queen Victoria's son Queen Victoria's son Leopold's Family Leopold's Family

His daughter, Alice of His daughter, Alice of Athlone, had one Athlone, had one hemophilic son hemophilic son (Rupert) and two (Rupert) and two other children -- a boy other children -- a boy and a girl -- whose and a girl -- whose status is unknown. status is unknown. What is the chance What is the chance

that her other son was that her other son was hemophilic? hemophilic?

What is the probability What is the probability that her daughter was that her daughter was a carrier? a carrier? hemophiliac? hemophiliac?

The Spanish ConnectionThe Spanish Connection Now for the Spanish Now for the Spanish

connection: Victoria's connection: Victoria's youngest child, Beatrice, gave youngest child, Beatrice, gave birth to one daughter, one birth to one daughter, one normal son, and two normal son, and two hemophilic sons. hemophilic sons.

Looking at the pedigree of the Looking at the pedigree of the royal family, identify which of royal family, identify which of Beatrice's children received Beatrice's children received the hemophilic gene; why can the hemophilic gene; why can you make this conclusion? you make this conclusion? Notice that Beatrice's Notice that Beatrice's daughter, Eugenie, married daughter, Eugenie, married King Alfonso XIII of Spain and King Alfonso XIII of Spain and had six children, one of whom had six children, one of whom was the father of Juan Carlos, was the father of Juan Carlos, the current King of Spain.the current King of Spain.

Would you predict that Juan Would you predict that Juan Carlos was normal, a carrier, Carlos was normal, a carrier, or a hemophilic? or a hemophilic?

German and Russian German and Russian InfluencesInfluences

ExploreExplore

Explore 1Explore 1 Sex-Linked InheritanceSex-Linked Inheritance Explore 2Explore 2 What Do You Know About What Do You Know About

Diabetes?Diabetes?

KaryotypingKaryotyping

Analyzing ChromosomesAnalyzing Chromosomes

EngageEngageGenetic DisordersGenetic Disorders Patau SyndromePatau Syndrome Edward SyndromeEdward Syndrome Klinfelter’s SyndromeKlinfelter’s Syndrome Turner SyndromeTurner Syndrome Super Male SyndromeSuper Male Syndrome Super Female SyndromeSuper Female Syndrome

47, XX or XY, +1347, XX or XY, +13

serious eye, brain, serious eye, brain, circulatory defects circulatory defects as well as cleft as well as cleft palate. 1:5000 live palate. 1:5000 live births. Children births. Children rarely live more rarely live more than a few months.than a few months.

Patau SyndromePatau Syndrome

Cleft PalateCleft Palate

Edward SyndromeEdward Syndrome

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

months. months.

Klinefelter’s SyndromeKlinefelter’s Syndrome

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

Turner SyndromeTurner Syndrome

the ONLY viable monosomythe ONLY viable monosomy

Super Male and Super Male and Super FemaleSuper Female

- Has an XXX- Has an XXX- Fertile - Fertile females with females with normal normal intelligenceintelligence

Has an XYYHas an XYY- Tall male with heavy acne- Tall male with heavy acne- Some tendency to mental - Some tendency to mental retardationretardationAggressive tendencyAggressive tendency

Explore 2Explore 2

Analyzing chromosomes of a Analyzing chromosomes of a normal male or femalenormal male or female

Normal FemaleNormal Female

Normal MaleNormal Male

ExplainExplain

QuestionsQuestions

How many chromosomes come How many chromosomes come from your Father?from your Father?

How many chromosomes come How many chromosomes come from your Mother?from your Mother?

What are chromosome pairs 1-22 What are chromosome pairs 1-22 called?called?

What is chromosome pair 23 What is chromosome pair 23 called?called?

Parts of a chromosomeParts of a chromosome

All human chromosomes have two All human chromosomes have two armsarms– the short arm is referred to as the the short arm is referred to as the

____ arm (petite)____ arm (petite)– the long arm as the ___the long arm as the ___ armarm

P

Q

DisordersDisorders

Name 3-4 diseases caused by a Name 3-4 diseases caused by a chromosomal abnormality.chromosomal abnormality.

What most often causes this What most often causes this abnormal number of abnormal number of chromosomes?chromosomes?

NondisjunctionNondisjunction

Terms to KnowTerms to Know

If either of these gametes unites with If either of these gametes unites with another during fertilization, the result is another during fertilization, the result is ________________ (any abnormal ________________ (any abnormal chromosome number)chromosome number)

A _____________cell has one extra A _____________cell has one extra chromosome (2n +1). chromosome (2n +1).

A ___________ cell has one missing A ___________ cell has one missing chromosome (2n - 1) chromosome (2n - 1)

Aneuploidy

Trisomy

Monosomy

ElaborateElaborate

Draw pedigrees from the given Draw pedigrees from the given problems.problems.

The Royal Family TreeThe Royal Family Tree

Elaborate 2Elaborate 2

Clues From the KaryotypeClues From the Karyotype– You will become a geneticists by You will become a geneticists by

identifying, organizing and studying identifying, organizing and studying human chromosomes to determine if human chromosomes to determine if any chromosomal disorder is any chromosomal disorder is present in your patient. present in your patient.

EvaluateEvaluate

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