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USE THIS POWERPOINT TO ANSWER QUESTIONS
ON PAGES 4-7 OF THE MENDELIAN GENETICS PACKET
                     GENE LOCI

                 P         a     B




                 P         a     b


    GENOTYPE:




    PHENOTYPE:
Autosomal Recessive Disorders

7. Connection: Many inherited disorders in humans are controlled by a single gene
Most such disorders are caused by
autosomal recessive alleles.

Examples include and cystic fibrosis and Tay-Sachs Disease




 Watch a simple explanation of CF here
Autosomal Recessive Disorders




                           Tay Sachs




                          Cystic
                          Fibrosis
Practice Problem
   Practice Problem: A couple is planning on having
    children and they would like to know what is the
    chance that they will have a child that is deaf. The
    ability to hear is dominant and deafness is
    recessive. Both parents are heterozygous dominant.
    Fill in the punnet square below and the genotypic
    and phenotypic results.
Autosomal Dominant Disorders

                                 Fraternal twins




 http://images.buddytv.com/userquizimages/q-1/f143fd32-3547-40fb-9104-1197d29085b83.jpg
Autosomal Dominant Disorders




                         Neurofibromatosis




                        Huntington’s Disease
Practice Problem
   Practice Problem: A couple is planning on having
    children and they would like to know what is the
    chance that they will have a child that is deaf. The
    ability to hear is dominant and deafness is
    recessive. Both parents are heterozygous dominant.
    Fill in the punnett square below and the genotypic
    and phenotypic results.
#8: Connection
  8. Connection: Fetal testing can spot many inherited
   disorders early in pregnancy
  Two types of tests are amniocentesis and chorionic villus
   sampling
Chorionic villi sampling
                     Chorionic villus
                     sampling (CVS) is
                     the removal of a
                     small piece of tissue
                     (chorionic villi)
                     from the uterus
                     during early
                     pregnancy to
                     screen the baby for
                     genetic defects.
Interested in learning more about genetic disorders?
Check out the Utah Genetics Disorders Library here.
Variations on Mendel

   9. The relationship of genotype to phenotype is rarely simple. Mendel’s principles
   are valid for all sexually reproducing species. However, often the genotype does
   not dictate the phenotype in the simple way his principles describe.
Practice Problem
   Incomplete dominance results in intermediate
    phenotypes
   Practice Problem: A certain type of flower exhibits
    incomplete dominance. Flowers that are
    homozygous dominant are red, flowers that are
    homozygous recessive are white and heterozygous
    flowers are pink. Complete the punnet square
    below for a cross between two heterozygous
    flowers.
#10
11. Codominance
   More than one dominant
    trait is present and both
    are expressed in their
    original form.
#12 Pleiotropy
   The ability of a single
    allele to have more than
    one distinguishable
    effect. For example the
    allele responsible for
    color pattern in Siamese
    cats.
http://www.thecitychicken.com/mainpagemarch24-2011c.jpg

The Frizzle Effect:
an example of pleiotropy

 In 1936, researchers Walter Landauer and
Elizabeth Upham observed that chickens that
expressed the dominant frizzle gene produced
feathers that curled outward rather than lying flat
against their bodies (Figure 2). However, this was
not the only phenotypic effect of this gene — along
with producing defective feathers, the frizzle gene
caused the fowl to have abnormal body
temperatures, higher metabolic and blood flow
rates, and greater digestive capacity.
Furthermore, chickens who had this allele also laid
fewer eggs than their wild-type
counterparts, further highlighting the pleiotropic
nature of the frizzle gene   .
                                                 http://www.nature.com/scitable/resource
                                                 action=showFullImageForTopic&imgSrc=/scitable/content/37535/poncho_MID
Pleiotropy in Humans

Marfan Syndrome
   Marfan syndrome is a condition in
    which your body's connective tissue is
    abnormal. Connective tissue helps
    support all parts of your body. It
    also helps control how your body
    grows and develops.

   Marfan syndrome most often affects
    the connective tissue of the heart and
    blood vessels, eyes, bones, lungs, and
    covering of the spinal cord. Because
    the condition affects many parts of      http://www.marfan.net.au/images/human_body.jpg
    the body, it can cause many
    complications. Sometimes the
    complications are life threatening.
   Interested? Read more here.
13. A single characteristic may be influenced by many genes. This situation creates a
continuum of phenotypes, an example is   height
Typical ‘Bell Curve’ for a polygenic trait
Some scientists suggest this accounts for behavioral traits
Not completely predetermined, but associated with genes
High blood pressure is a polygenic trait.

       Food For Thought:
   What genes could
    combine to contribute to
    high blood pressure?
High blood pressure is a polygenic trait.

   The phenotype is an interaction between a person's
    weight (one or more obesity genes), cholesterol
    level (one or more genes controlling
    metabolism), kidney function (salt transporter
    genes), smoking (a tendency to addiction), and
    probably lots of others too. Each of the contributing
    genes can also have multiple alleles.
Environmental Effect on Phenotype




Food for Thought:
What do you think is happening in this picture? Why do you think some
phenotypes are effect by the environment? Can you think of other phenotypes
that are effected by the environment?
14. Meiosis is a process by which…
Before watching the video or looking at your notes, see if you can answer the
questions on page 6 and 7 about meiosis.
STOP WHEN YOU GET TO:
THE CHROMOSOMAL BASIS
OF INHERITANCE ON PAGE 7

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Industrial Policy - 1948, 1956, 1973, 1977, 1980, 1991
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Genetic Disorders and Variations on Mendel's Principles

  • 1. USE THIS POWERPOINT TO ANSWER QUESTIONS ON PAGES 4-7 OF THE MENDELIAN GENETICS PACKET GENE LOCI P a B P a b GENOTYPE: PHENOTYPE:
  • 2. Autosomal Recessive Disorders 7. Connection: Many inherited disorders in humans are controlled by a single gene Most such disorders are caused by autosomal recessive alleles. Examples include and cystic fibrosis and Tay-Sachs Disease Watch a simple explanation of CF here
  • 3. Autosomal Recessive Disorders Tay Sachs Cystic Fibrosis
  • 4. Practice Problem  Practice Problem: A couple is planning on having children and they would like to know what is the chance that they will have a child that is deaf. The ability to hear is dominant and deafness is recessive. Both parents are heterozygous dominant. Fill in the punnet square below and the genotypic and phenotypic results.
  • 5. Autosomal Dominant Disorders Fraternal twins http://images.buddytv.com/userquizimages/q-1/f143fd32-3547-40fb-9104-1197d29085b83.jpg
  • 6. Autosomal Dominant Disorders Neurofibromatosis Huntington’s Disease
  • 7. Practice Problem  Practice Problem: A couple is planning on having children and they would like to know what is the chance that they will have a child that is deaf. The ability to hear is dominant and deafness is recessive. Both parents are heterozygous dominant. Fill in the punnett square below and the genotypic and phenotypic results.
  • 8. #8: Connection  8. Connection: Fetal testing can spot many inherited disorders early in pregnancy  Two types of tests are amniocentesis and chorionic villus sampling
  • 9.
  • 10. Chorionic villi sampling Chorionic villus sampling (CVS) is the removal of a small piece of tissue (chorionic villi) from the uterus during early pregnancy to screen the baby for genetic defects.
  • 11. Interested in learning more about genetic disorders? Check out the Utah Genetics Disorders Library here.
  • 12. Variations on Mendel 9. The relationship of genotype to phenotype is rarely simple. Mendel’s principles are valid for all sexually reproducing species. However, often the genotype does not dictate the phenotype in the simple way his principles describe.
  • 13. Practice Problem  Incomplete dominance results in intermediate phenotypes  Practice Problem: A certain type of flower exhibits incomplete dominance. Flowers that are homozygous dominant are red, flowers that are homozygous recessive are white and heterozygous flowers are pink. Complete the punnet square below for a cross between two heterozygous flowers.
  • 14. #10
  • 15. 11. Codominance  More than one dominant trait is present and both are expressed in their original form.
  • 16. #12 Pleiotropy  The ability of a single allele to have more than one distinguishable effect. For example the allele responsible for color pattern in Siamese cats.
  • 17. http://www.thecitychicken.com/mainpagemarch24-2011c.jpg The Frizzle Effect: an example of pleiotropy In 1936, researchers Walter Landauer and Elizabeth Upham observed that chickens that expressed the dominant frizzle gene produced feathers that curled outward rather than lying flat against their bodies (Figure 2). However, this was not the only phenotypic effect of this gene — along with producing defective feathers, the frizzle gene caused the fowl to have abnormal body temperatures, higher metabolic and blood flow rates, and greater digestive capacity. Furthermore, chickens who had this allele also laid fewer eggs than their wild-type counterparts, further highlighting the pleiotropic nature of the frizzle gene . http://www.nature.com/scitable/resource action=showFullImageForTopic&imgSrc=/scitable/content/37535/poncho_MID
  • 18. Pleiotropy in Humans Marfan Syndrome  Marfan syndrome is a condition in which your body's connective tissue is abnormal. Connective tissue helps support all parts of your body. It also helps control how your body grows and develops.  Marfan syndrome most often affects the connective tissue of the heart and blood vessels, eyes, bones, lungs, and covering of the spinal cord. Because the condition affects many parts of http://www.marfan.net.au/images/human_body.jpg the body, it can cause many complications. Sometimes the complications are life threatening.  Interested? Read more here.
  • 19. 13. A single characteristic may be influenced by many genes. This situation creates a continuum of phenotypes, an example is height
  • 20. Typical ‘Bell Curve’ for a polygenic trait Some scientists suggest this accounts for behavioral traits Not completely predetermined, but associated with genes
  • 21. High blood pressure is a polygenic trait. Food For Thought:  What genes could combine to contribute to high blood pressure?
  • 22. High blood pressure is a polygenic trait.  The phenotype is an interaction between a person's weight (one or more obesity genes), cholesterol level (one or more genes controlling metabolism), kidney function (salt transporter genes), smoking (a tendency to addiction), and probably lots of others too. Each of the contributing genes can also have multiple alleles.
  • 23. Environmental Effect on Phenotype Food for Thought: What do you think is happening in this picture? Why do you think some phenotypes are effect by the environment? Can you think of other phenotypes that are effected by the environment?
  • 24. 14. Meiosis is a process by which… Before watching the video or looking at your notes, see if you can answer the questions on page 6 and 7 about meiosis.
  • 25. STOP WHEN YOU GET TO: THE CHROMOSOMAL BASIS OF INHERITANCE ON PAGE 7