Warm Up

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Warm Up

• Copy the notebook info into your notebook
• Table of Contents
• March 19th 7.L.2.2 Pedigree
• Notes
• March 19th 7.L.2.2 Pedigree
• How do Pedigrees help determine inheritance of
  genetic traits and diseases?

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Pedigrees

• What is a pedigree?
• -Pedigrees are family trees which show which
  individuals in the family get certain diseases or
  have certain traits.

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• Why are pedigrees important?
• Scientists use pedigrees to track/trace the
  passing on of genes and traits over generations.
• Pedigrees help determine how genetic diseases are
  passed through families

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• Pedigrees show generations kind of like a
  family tree

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Pedigrees show generationsEach row represents a
generation

• Generation 1
• Generation 2
• Generation 3

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Pedigrees show gender
Shape Gender
circle Female
square Male
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Pedigrees Show Marriage/ MatingA horizontal line
connecting a circle and a square means the male
and female are married
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Pedigrees show childrenVertical Line connect
parents and children
Parents Children
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Pedigrees shown Genotypes / Affectedness
shaded / colored has traita colored in
shape always has the recessive traitunless
otherwise statedTwo lower cases in genotype
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• half shaded carrier / heterozygous

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• Clear shape homozygous dominant genotype
• Heterozygous if child is colored in
• Genotype written as E? (letter and ?)

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• Shaded homozygous recessive
• Half heterozygous
• Clear Homozygous Dominant or Heterozygous
  (depends on childs genotype)

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Pedigrees show Death

• Circle or Square with diagonal line means person
  has died

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• http//www.youtube.com/watch?vWuk0W10EveU

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Rules of Logic for Reading A Pedigree

• 1. If neither parent show the trait
• a. the trait cannot be dominant.
• b. the trait could be recessive and either parent
  or both could be heterozygous carriers.
• 2. If one parent shows the trait
• a. the trait could be dominant and the affected
  parent could be heterozygous while the unaffected
  parent is not a carrier
• b. the trait could be recessive and the affected
  parent is homozygous while the unaffected parent
  could be a heterozygous carrier
• 3. If both parents show the trait
• a. the trait could be dominant and both parents
  could be heterozygous carriers which
• means that some of the children could be
  unaffected
• b. the trait could be recessive meaning that both
  parents would have to be homozygous and
• all the children would have to be affected

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• Pedigree 1 shows a family of parrots. One of the
  offspring shows the trait for blue feathers. (R
  red feathers, r blue feathers)
• Do you think blue feathers are dominant or
  recessive?
• recessive
• 2. What must the genotypes of the parents be?
• Rr
• 3. What two genotypes could the other offspring
  have?
• RR or Rr

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1. Father has green leaves
2. Male gg, female Gg

1. Bb
2. bb
3. Bb or BB

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Reading a Pedigree

• How many males are there?
• How many females are there?
• How many children did the first
• generation parents have?
• 4. How many sets of married couples
• Does the pedigree show?
• How many carriers does the pedigree show?
• 6. How many affected individuals does the
  pedigree show?

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• How many males are there?
• 4
• How many females are there? 5
• 3. How many children did the first
• generation parents have? 3
• 4. How many sets of married couples
• Does the pedigree show?
• 3
• How many carriers does the pedigree show? 0
• How many affected individuals does the pedigree
  show? 1

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Practice

• Genetics Pedigree Worksheet
• 1 gt no dimples dd (colored in no dimples)
• 2 gt unibrow ee (colored in unibrow)
• 3 gt colored in dd

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Warm Up

• Put Pedigree HW worksheet on desk
• Answer front side of handout (the side that says
  Warm Up)
• READ KEY AT THE BOTTOM OF THE PAPER

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Colored FreeBlank Attached
F Dominant, Free f Recessive, Attached
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Review Exit Ticket

• How many generations?
• 3
• The chart shows a total of 5 female offspring.
  How many of these women are carriers of
  colorblindness? 2
• Of the 3 male offspring, how many have
  colorblindness? 2

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Notes

• Table of Contents
• March 20th Pedigree Day 2
• Notes
• March 20th Pedigree Day 2
• How do you interpret a pedigree chart?

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Identifying People in Pedigrees

• Roman Number of Generation and then Number in row
• IV 1
• II 7

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Review HW
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• a. How many males are there? 8
• b. How many males have hemophilia? 3
• 2. A circle represents a female. If it is
  darkened, she has hemophilia if open she is
  normal.
• a. How many female are there? 8
• b. How many females have hemophilia? 2
• 3. A marriage is indicated by a horizontal line
  connecting a circle to a square.
• a. How many marriages are there? 3
• 4. A line perpendicular to a marriage line
  indicates the offspring. If the line ends with
  either a circle or a square, the couple had only
  one child. However, if the line is connected to
  another horizontal line, then several children
  were produced, each indicated by a short vertical
  line connected to the horizontal line. The first
  child born appears to the left and the last born
  to the right.
• a. How many children did the first couple (couple
  in row I) have? 2
• b. How many children did the third couple (couple
  in row III) have? 7
• 5. Level I represent the first generation, level
  II represents the second generation.
• a. How many generations are there? 4
• b. How many members are there in the fourth
  generation? 7

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• I
• II
• III
• 6. Write the generation on the pedigree numbers
  (roman numerals).
• 7. Which members of the family above are
  afflicted with Huntingtons Disease? I-1, II-2,
  II-3, II-7, III-3
• 8. There are no carriers for Huntingtons
  Disease- you either have it or you dont.
• With this in mind, is Huntingtons disease caused
  by a dominant or recessive trait? dominant
• 9. How many children did individuals I-1 and I-2
  have? 6

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• 10. How many girls did II-1 and II-2 have? 2 How
  many have Huntingtons Disease? 2
• 11. How is individual III-2 and II-4 related?
  niece-uncle
• I-2 and III-5? grandma-grandson
• 12. Write the genotypes of each individual on the
  pedigree.

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• I
• II
• III
• IV
• 13. Write the generation on the pedigree numbers
  (roman numerals).
• The pedigree to the above shows the passing on of
  Hitchhikers Thumb in a family. Is this trait
  dominant or recessive? recessive
• 14. How do you know? Because parents III-4 and
  III-5 had to have kids IV-2 and IV-4
• 15. How are individuals III-1 and III-2 related?
  mating
• 16. Name 2 individuals that have hitchhikers
  thumb. IV-2 and IV-4
• 17. Name 2 individuals that were carriers of
  hitchhikers thumb.
• III-4 and III-5
• 18. Write the genotypes for each individual on
  the pedigree.

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• a. Which characteristic is dominant? Black
• b. Which characteristic is recessive? White
• c. Determine the genotypes of all individuals.
  You will have three A?. Write your Genotypes
  beneath each individual.

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Interpreting a Pedigree

• Generations
• - Each row represents a generation.
• Each generation is marked using Roman Numerals
• (I, II, III, IV)

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Interpreting a Pedigree

• On a pedigree the trait is shown by the colored
  shapes
• Generally if a shape is colored that person has
  the trait

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Parent Genotype Based on Child

• If one or more child has the trait
• AND
• Parent shapes are blank
• Parent genotype heterozygous

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Determining if the trait is Dominant or
Recessive

• If one parent has disorder (colored) disorder is
  dominant
• If neither parent has to have the disorder
  (blank) but children do, the disorder is
  recessive and parents are heterozygous.

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• Parent with disorder (colored in) dominant
• Parent without disorder (blank) recessive

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• Dominant
• Or
• Recessive?
• Dominant because
• The father has it

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Dominant or Recessive

• Recessive because parents do not have it

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Dominant or Recessive?

• Recessive because parents do not have it

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Dominant or Recessive?

• Dominant because one parent has it

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Practice

• Problem 1 and Problem 2

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Problem 1

1. I , II 1, II3, II 7, III3
2. Dominant
3. 6
4. 2 Huntington's 1
5. Uncle Grandmother1

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Problem 2

• Recessive
• Because the parents do not have it
• Married
• IV 1, IV3
• III 1, III 2

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Problem 3

• Create a pedigree for the following
• 1. Joe Marries Sue- they are carriers for the
  jumping disease
• 2. They have 4 kids Jack, Zack, Luke and Sara
• 3. Zack and Sara have the jumping disease
  (recessive)
• 4. Jack marries Amy, she has the disease
• 5. They have Lorie, who is also affected
• 6. Sara marries Dan who is a carrier. Sara is
  pregnant

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B. Punnett Square
R r r Rr rr r Rr rr

• Sara rr
• Dan Rr
• There is a 50 chance
• Their baby will have
• The disease

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• A. Make a pedigree for the family below.
• 1. Matt and Jennifer get married Matt has hairy
  toes (recessive)
• 2. They have 2 kids, Adam and Faith
• 3. Adam has hairy toes and Faith is a carrier
• 4. Faith marries Alex. They have 1 son. He does
  not have hairy toes.
• B. What is Jennifers Genotype? How do you know?
• C. What is Alexs Genotype? How do you know?

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Exit

• How many generations are in this pedigree?
• Is the trait in this pedigree dominant or
  recessive?
• What are the genotypes of III 5 and III 6?
• How many males are in generation II?
• How many females are there total?

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Chromosomes Determine Gender

• XX Female
• XY Male

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a trait that is found on either the X or Y
chromosome
Sex Linked Trait
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Hemophilia is an example of a sex linked trait.
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a disease where your blood doesnt clot.
Hemophilia
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Hemophilia only occurs when all of the X
chromosomes have a copy of the recessive gene.
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XHXhfemale carrier
XhXhfemale hemophiliac
XHYnormal male
XhYhemophiliac male
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SICKLE CELL ANEMIA
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Difference between normal cells sickle cells
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Sickle Cell
SS normal
Ss carrier (SC trait)
ss sickle cells (lethal)
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Sickle Cells tend to get stuck easily in the
circulatory system.
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Why would African Americans be so much more
likely to have Sickle Cell?
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Regular red blood cells infected by malaria
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chart that shows the relationships within a
family
PEDIGREE
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Sample Pedigree
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Sample Pedigree
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Pedigree Basics

• Males are squares, females are circles, and
  unborn babies are triangles or octagons
• Shaded figures represent individuals with the
  trait, a carrier could be 1/2 shaded
• Generations are numbered with roman numerals (I,
  II, II, IV) from top to bottom
• People within generations are numbered (1,2,3)
  from left to right

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a protein produced by white blood cells in the
body in response to the presence of an antigen,
for example, a bacterium or virus
ANTIBODY
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a substance, usually a protein, on the surface
of a cell or bacterium that stimulates the
production of an antibody
ANTIGEN
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Blood Groups
Blood group A You have A antigens on the surface
of your red blood cells and B antibodies in your
blood plasma.
Blood group B You have B antigens on the surface
of your red blood cells and A antibodies in your
blood plasma.
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Blood Groups
Blood group ABYou have both A and B antigens on
the surface of your red blood cells and no A or B
antibodies at all in your blood plasma.
Blood group 0 You have neither A or B antigens on
the surface of your red blood cells but you have
both A and B antibodies in your blood plasma.
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Rh Factors
Many people have a Rh factor on the surface of
their red blood cells. This is also an antigen
and those who have it are called Rh. Those who
haven't are called Rh-.
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Possible Blood Groups

• You can belong to either of following 8 blood
  groups

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Transfusions
The transfusion will work if a person who is
going to receive blood has a blood group that
doesn't have any antibodies against the donor
blood's antigens.
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People with blood group 0 are called "universal
donors" and people with blood group AB are called
"universal receivers.
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http//www.nobel.se/medicine/educational/landstein
er/index.html
PRACTICE TRANSFUSIONS
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200 B.C. Humans clone trees by cuttings
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1950 Humans clone frogs
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1980s Humans clone mice!
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1997 HUMANS CLONE SHEEP!!!
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1998 Humans clone 8 copies of a cow!!!
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20??
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moving genes from one chromosome of one organism
to the chromosome of another
GENETIC ENGINEERING
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Fat Gene
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making an exact copy of another cell / organism
CLONING
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Dollythe first cloned sheep
Ian Wilmut, the dude that did it
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Check out this short movie that talks about
cloning
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A dividing cell
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Read NYTimes Article "Despite Warnings, 3 Vow to
Go Ahead on Human Cloning"
a. What did three proponents of human cloning
announce on August 7, 2001? b. Where did they
make this announcement? c. Why did some
scientists at the symposium object to the
proponents' announcement? d. Why did Dr. Alan
Colman object to the research by these
proponents being done in secret? e. According to
the article, what was the consensus among the
panel and most of those who testified before it?

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Read NYTimes Article "Despite Warnings, 3 Vow to
Go Ahead on Human Cloning"
f. Who was "Dolly"?g. What animals have been
successfully cloned? h. According to the
article, what is involved in cloning a human?
i. How did the three proponents say they would
address the possibility of genetic
abnormalities? j. How did other experts at the
symposium respond to this statement? k. Why do
the proponents need to conduct their research
secretly?
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• http//www.biology.arizona.edu/human_bio/activitie
  s/karyotyping/karyotyping.html

• http//www.pathology.washington.edu/galleries/Cyto
  gallery/cytogallery.html

• http//www.biology.iupui.edu/biocourses/N100/2k2hu
  mancsomaldisorders.html

• http//www.biology.washington.edu/bsa/karyotypeS.h
  tml

• http//worms.zoology.wisc.edu/zooweb/Phelps/karyot
  ype.html

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A technique used to determine the genetic traits
of a baby before it is born
AMNIOCENTESIS
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Klinefelter Syndrome

• Have male genitalia and internal ducts, but
  underdeveloped testes
• Do not produce sperm
• Slight enlargement of the breasts
• 47,XXY
• 1 out of every 500 male births

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Turner Syndrome

• Has female external genitalia
• Underdeveloped ovaries
• Short (under 5 feed)
• Webbed Neck
• Broad, Shield-like chest
• 45,X
• 1 out of every 3000 female births

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Cri-du-Chat Syndrome

• Partial monosomy (part of 1 chromosome is lost)
• Loss of about 1/3 of the short arm of chromosome
  5
• Anatomical malfomrations (gastrointestinal and
  cardiac complications)
• Mentally retarded
• Abnormal development of the larynx which makes
  the babys cry sound like a cats cry
• 1 in 50,000 live births

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Down Syndrome

• BKA trisomy 21 (47, 21) 3 copies of the 21st
  chromosome
• Short
• Small round heads
• Protruding, furrowed tongues which cause mouth to
  remain partially open
• Retarded (IQ below 70)
• Shortened life expectancy (lt50)
• Prone to reparatory disease and heart
  malformations
• Have 15x higher chance of getting leukemia
• Chance of having a baby with Down syndrome goes
  up as the mother gets older

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