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GENETICS
GENETICS
Every trait (or characteristic) in your body comes from
       instructions from your mother and father




     Father                                 Mother
GENETICS
 The instructions are coded in the DNA as genes. Genes
              are located in chromosomes.




                           Genes
                           Segments of DNA that
                           code for specific traits

                For example…

                               Gene for height


                               Gene for eye-color



This is not an accurate example. It’s just used to illustrate a point.
GENETICS
                A closer look…

Half of the offspring’s chromosomes are from mommy, and
                   half are from daddy.




Father                                          Mother
GENETICS
                      A closer look…




Humans have 23 different chromosomes. We get 1 of
each from our parents, for a total of 46 in somatic cells.
GENETICS
                               A closer look…


                                                Homologues

                                    Homologues

                                                   Not
                                                   homologues



                                        A pair of the same types of
                                        chromosomes are called
                                        homologous chromosomes,
                                        or just homologues.
This picture has 22 pairs of
homologous chromosomes.
GENETICS
Chromosomes and their genes are passed to the offspring
   (children) through sperm and egg cells (gametes)



                       Egg cells



                    23 chromosomes




                     Sperm cells

   Father                                 Mother
                   23 chromosomes
GENETICS
Chromosomes and their genes are passed to the offspring
   (children) through sperm and egg cells (gametes)




   Father                                 Mother
GENETICS
           9 months later…




Father                            Mother


          The offspring is born
GENETICS
          Each gene has alternate forms, called alleles. For
        instance, the gene for eye colour may have 2 alleles:
                            brown or blue


                          Brown eyes


                                Blue eyes




      Father passed-on:                        Mother passed-on:


                                                         Blue eyes
Brown eyes
GENETICS
       Some alleles can “mask” the effects of the other allele.

                             Although the
                            mother has blue
                           eyes, the child has
                              brown eyes.




             Father                                    Mother

                In this case, brown eyes are “dominant”     Blue eyes
Brown eyes
                  As a result, blue eyes are “recessive”
GENETICS
       Some alleles can “mask” the effects of the other allele.


                                  Dominant – traits that are
                                  expressed more often.

                                  Alleles that are dominant are usually
                                  represented by a capitalized letter
                                  symbolizing that allele (i.e. B)


                                  Recessive – traits that are
                                  expressed less frequently.
                      Blue eyes
Brown eyes                        Alleles that are recessive are usually
                                  represented by a lower-case letter
                                  symbolizing that allele (i.e. b)
GENETICS
                 Dominant and Recessive Alleles:

                                    Daughter’s genetic makeup:

                                  Brown eyes          Blue eyes




  How can the daughter’s two alleles (genotype) be written?

Let the allele for brown eyes be B, and the allele for blue eyes be b

                                 Bb
                    Brown eyes          Blue eyes
GENETICS
                  Dominant and Recessive Alleles:




                                              Bb
                                 Brown eyes            Blue eyes




Notice how the daughter carries the allele for blue eyes, but she does
                       not have blue eyes.

       Thus her phenotype (observable trait) is brown eyes.
GENETICS
              Homozygous vs. heterozygous


              Bb
 Brown eyes           Blue eyes




  Since she carries two different alleles for eye colour, we
      can say that she is heterozygous for eye color.


Heterozygous – describes the genotype of an organism that
contains two different alleles (ex. Bb)
GENETICS
               Homozygous vs. heterozygous


               bb
   blue eyes          Blue eyes




        If she had blue eyes, we can say that she is
                homozygous for eye color.


Homozygous – describes the genotype of an organism that
contains two alleles that are the same (ex. BB)
GENETICS
            But wait…




Father                        Mother
         Is this possible?!
GENETICS
                   Yes this is possible
The father could have carried the recessive allele for blue
                     eyes as well…




     Father
                           bb                  Mother
      Bb                                         bb
 …although you can’t tell because he has the dominant
      brown eye allele (which “masks” blue eyes)
GENETICS
The father’s parents could have passed the blue eye allele to
                            him




     Grandpa                                   Grandma
       bb                                        BB


                            Father
                             Bb
GENETICS
         All too complicated?
Let’s take a look at how it all started…


                      Gregor Mendel (1822-1884)

                   - Known as the father of genetics
                   - Worked with pea plants
GENETICS
             Mendel’s pea plants




He observed 2 traits for each part of the plant
GENETICS
                     Mendel’s pea plants




         Mendel came up with the concept of alleles.
He noticed that alleles are hereditary, and that you can predict
    the probability of the offspring having certain alleles.
GENETICS
                  Mendel’s pea plants

He also noticed that some traits dominated over others




For instance, if you “crossed” a yellow-pea plant with a
 green-pea plant, you generally get a yellow-pea plant

                        Mendel Video
GENETICS
                            Mendel’s pea plants

           What does “crossing” the pea plants mean?
    It means to mate a plant with another plant by pollination.

       Garden peas are both self-fertilizing and cross-fertilizing.

 Self-fertilizing – a plant’s pollen grains fertilize it’s own egg cells in the
                                    ovary

Cross-fertilizing – a plant’s pollen grains fertilize another plant’s egg cells
                                in the ovary
GENETICS
                      Mendel’s pea plants
  This allowed Mendel to mate pea plants with each other as
                      well as with itself.


For example, you can mate a
purple flower pea plant with itself.




 This is called a
 Punnett Square                         MATE!
GENETICS
                Punnett Square

                        This means that mating a pea
                        plant that is heterozygous for
                        flower colour (Bb) with itself will
                        produce…

                        F1 GENOTYPE:
                        25% BB
                        50% Bb
                        25% bb

                        A 1:2:1 ratio

                        F1 PHENOTYPE:
                        75% purple flowers
                        25% white flowers

F1 stands for filius and filia, which in Latin means
                “son” or “daughter”
GENETICS Square
  Constructing a Simple Punnett

Step 1: Draw a square with a 2 by 2 grid
GENETICS Square
        Constructing a Simple Punnett
     Step 2: Choose a letter for your allele and
     record this choice

Let the allele for purple flower be represented by the letter B
GENETICS Square
           Constructing a Simple Punnett
Step 3: Consider all possible gametes produced by the
first parent. Write the alleles for these gametes across
the top of the square
                             Bb                Let the allele for
                                               purple flower be
                                               represented by the
                        B            b         letter B
GENETICS Square
          Constructing a Simple Punnett
Step 4: Consider all possible gametes produced by the
second parent. Write the alleles for these gametes down
the side of the square
                                             Let the allele for
                                             purple flower be
                                             represented by the
                       B            b        letter B




             b
bb

             b
GENETICS Square
          Constructing a Simple Punnett
Step 5: Complete the square by writing all possible allele
combinations from the cross

                                             Let the allele for
                                             purple flower be
                                             represented by the
                       B           b         letter B




             b


             b
GENETICS Square
          Constructing a Simple Punnett
Step 6: Determine the genotypic and phenotypic
proportions of the offspring
                                           Let the allele for
                                           purple flower be
                                           represented by the
                                           letter B
                       B          b
                                             F1 Genotypes:

                                             50% Bb
             b       Bb          bb          50% bb


                                             F1 Phenotypes:

                                             50% of the plants
             b       Bb          bb          have purple flowers

                                             50% of the plants
                                             have white flowers
GENETICS
A plant that is homozygous for purple flowers is crossed with a plant
that has white flowers. If the purple condition is dominant over the
white condition, what are the genotypes and phenotypes of the F1
generation?
    GIVEN:       Let the allele for flower color be presented by the letter P
                 Parent genotypes:         PP               X             pp
                 Parent gametes:           P or P           X            p or p
                             Parent # 1 gametes

                                                            Results:
                           P                      P
                                                            Therefore the results of
                                                            the PP x pp cross
Parent # 2                 Pp                 Pp            indicate that:
gametes      p
                          25%                25%            F1 genotypes: 100% are
                                                            Pp (or 4 out of 4 are Pp)
                           Pp                 Pp
             p                                              F1 phenotypes: all plants
                          25%                25%            have purple flowers
GENETICS
Sheep ranchers prefer white sheep over black sheep, because black
    fur is hard to die and is brittle. The allele for black fur is
  recessive. As a result, if a sheep rancher wishes to purchase a
white fur sheep for breeding, how does she/he know if it will make
  black fur babies (in other words, how does the rancher know if
          her/his sheep is homozygous or heterozygous?)?




 A test cross can be performed to determine the genotype of a
   dominant phenotype, which involves breeding the unknown
genotype with a homozygous recessive genotype. In this case the
   white sheep with an unknown genotype will be bred with a
            homozygous recessive black fur sheep.
WHY WERE MENDEL’S FINDINGS
       IMPORTANT?
Once we find traits that we like in an organism (for
example, a dog), we can maintain these traits by
mating closely related individuals for the purpose of
maintaining or perpetuating these characteristics (this
is called “inbreeding”)
WHY WERE MENDEL’S FINDINGS
       IMPORTANT?

-We can also mix traits that we like together from
different species (in plants)
-This process is called “hybridization”
WHY WERE MENDEL’S FINDINGS
       IMPORTANT?

           Genetic Screening:
           -we can tell if an individual
           carries an allele (or two
           alleles) for genetic disorders
           -Amniocentesis and Chorionic
           Villus Sampling (CVS)
WHY WERE MENDEL’S FINDINGS
        IMPORTANT?
AMNIOCENTESIS:


Looking at fetal
cells from the
amniotic fluid
WHY WERE MENDEL’S FINDINGS
         IMPORTANT?

CHORIONIC VILLUS
SAMPLING (CVS):


Sampling tiny
fingerlike projections
on the placenta


Can be performed
earlier (10th to 12th
week of pregnancy)
than amniocentesis
THE STORY ISN’T AS SIMPLE…
There are often
more than 2
alleles per
                     This is called
gene…
                     having multiple
                     alleles for one
…but each            gene
organism can
ONLY have two
different alleles
for a trait at any
one time
                     We usually
                     express these
                     alleles like this:
                     E1, E2, E3, E4
THE STORY ISN’T AS SIMPLE…




Codominance:
Both alleles are
expressed at the
same time
THE STORY ISN’T AS SIMPLE…




Incomplete
dominance: two
alleles are equally
dominant
THE STORY ISN’T AS SIMPLE…
SEX-LINKED TRAITS
- Traits that are
controlled by genes
located on the sex
chromosomes
(usually the X
chromosome)

Ex: Duchenne
muscular
dystrophy,
hemophilia,
Charcot-Marie-
Tooth disease and
color blindness
-Usually
represented like
this:
XR Xr
SEX-LINKED TRAITS
Females get 2 X chromosomes:




                     Protected by
                     other X
                     chromosome

Males get ONE X chromosome:




                     Disease!!!
SEX-LINKED TRAITS
  Females get 2 X chromosomes:




                 -1 gets turned off (called a
                 Barr Body)
                 -some cells have one X
                 chromosome inactive, while
                 other cells have the other
                 inactive
GENETICS
                        Dihybrid cross




So far what we have done
is a monohybrid cross,
which only involves one
trait. What if you wanted
to see how two different
traits are passed on to the
next generation?

Male RrYy x Female RrYy
GENETICS
                        Dihybrid cross




So far what we have done
is a monohybrid cross,
which only involves one
trait. What if you wanted
to see how two different
traits are passed on to the
next generation?

Male RrYy x Female RrYy

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01 mendelian genetics

  • 2. GENETICS Every trait (or characteristic) in your body comes from instructions from your mother and father Father Mother
  • 3. GENETICS The instructions are coded in the DNA as genes. Genes are located in chromosomes. Genes Segments of DNA that code for specific traits For example… Gene for height Gene for eye-color This is not an accurate example. It’s just used to illustrate a point.
  • 4. GENETICS A closer look… Half of the offspring’s chromosomes are from mommy, and half are from daddy. Father Mother
  • 5. GENETICS A closer look… Humans have 23 different chromosomes. We get 1 of each from our parents, for a total of 46 in somatic cells.
  • 6. GENETICS A closer look… Homologues Homologues Not homologues A pair of the same types of chromosomes are called homologous chromosomes, or just homologues. This picture has 22 pairs of homologous chromosomes.
  • 7. GENETICS Chromosomes and their genes are passed to the offspring (children) through sperm and egg cells (gametes) Egg cells 23 chromosomes Sperm cells Father Mother 23 chromosomes
  • 8. GENETICS Chromosomes and their genes are passed to the offspring (children) through sperm and egg cells (gametes) Father Mother
  • 9. GENETICS 9 months later… Father Mother The offspring is born
  • 10. GENETICS Each gene has alternate forms, called alleles. For instance, the gene for eye colour may have 2 alleles: brown or blue Brown eyes Blue eyes Father passed-on: Mother passed-on: Blue eyes Brown eyes
  • 11. GENETICS Some alleles can “mask” the effects of the other allele. Although the mother has blue eyes, the child has brown eyes. Father Mother In this case, brown eyes are “dominant” Blue eyes Brown eyes As a result, blue eyes are “recessive”
  • 12. GENETICS Some alleles can “mask” the effects of the other allele. Dominant – traits that are expressed more often. Alleles that are dominant are usually represented by a capitalized letter symbolizing that allele (i.e. B) Recessive – traits that are expressed less frequently. Blue eyes Brown eyes Alleles that are recessive are usually represented by a lower-case letter symbolizing that allele (i.e. b)
  • 13. GENETICS Dominant and Recessive Alleles: Daughter’s genetic makeup: Brown eyes Blue eyes How can the daughter’s two alleles (genotype) be written? Let the allele for brown eyes be B, and the allele for blue eyes be b Bb Brown eyes Blue eyes
  • 14. GENETICS Dominant and Recessive Alleles: Bb Brown eyes Blue eyes Notice how the daughter carries the allele for blue eyes, but she does not have blue eyes. Thus her phenotype (observable trait) is brown eyes.
  • 15. GENETICS Homozygous vs. heterozygous Bb Brown eyes Blue eyes Since she carries two different alleles for eye colour, we can say that she is heterozygous for eye color. Heterozygous – describes the genotype of an organism that contains two different alleles (ex. Bb)
  • 16. GENETICS Homozygous vs. heterozygous bb blue eyes Blue eyes If she had blue eyes, we can say that she is homozygous for eye color. Homozygous – describes the genotype of an organism that contains two alleles that are the same (ex. BB)
  • 17. GENETICS But wait… Father Mother Is this possible?!
  • 18. GENETICS Yes this is possible The father could have carried the recessive allele for blue eyes as well… Father bb Mother Bb bb …although you can’t tell because he has the dominant brown eye allele (which “masks” blue eyes)
  • 19. GENETICS The father’s parents could have passed the blue eye allele to him Grandpa Grandma bb BB Father Bb
  • 20. GENETICS All too complicated? Let’s take a look at how it all started… Gregor Mendel (1822-1884) - Known as the father of genetics - Worked with pea plants
  • 21. GENETICS Mendel’s pea plants He observed 2 traits for each part of the plant
  • 22. GENETICS Mendel’s pea plants Mendel came up with the concept of alleles. He noticed that alleles are hereditary, and that you can predict the probability of the offspring having certain alleles.
  • 23. GENETICS Mendel’s pea plants He also noticed that some traits dominated over others For instance, if you “crossed” a yellow-pea plant with a green-pea plant, you generally get a yellow-pea plant Mendel Video
  • 24. GENETICS Mendel’s pea plants What does “crossing” the pea plants mean? It means to mate a plant with another plant by pollination. Garden peas are both self-fertilizing and cross-fertilizing. Self-fertilizing – a plant’s pollen grains fertilize it’s own egg cells in the ovary Cross-fertilizing – a plant’s pollen grains fertilize another plant’s egg cells in the ovary
  • 25. GENETICS Mendel’s pea plants This allowed Mendel to mate pea plants with each other as well as with itself. For example, you can mate a purple flower pea plant with itself. This is called a Punnett Square MATE!
  • 26. GENETICS Punnett Square This means that mating a pea plant that is heterozygous for flower colour (Bb) with itself will produce… F1 GENOTYPE: 25% BB 50% Bb 25% bb A 1:2:1 ratio F1 PHENOTYPE: 75% purple flowers 25% white flowers F1 stands for filius and filia, which in Latin means “son” or “daughter”
  • 27. GENETICS Square Constructing a Simple Punnett Step 1: Draw a square with a 2 by 2 grid
  • 28. GENETICS Square Constructing a Simple Punnett Step 2: Choose a letter for your allele and record this choice Let the allele for purple flower be represented by the letter B
  • 29. GENETICS Square Constructing a Simple Punnett Step 3: Consider all possible gametes produced by the first parent. Write the alleles for these gametes across the top of the square Bb Let the allele for purple flower be represented by the B b letter B
  • 30. GENETICS Square Constructing a Simple Punnett Step 4: Consider all possible gametes produced by the second parent. Write the alleles for these gametes down the side of the square Let the allele for purple flower be represented by the B b letter B b bb b
  • 31. GENETICS Square Constructing a Simple Punnett Step 5: Complete the square by writing all possible allele combinations from the cross Let the allele for purple flower be represented by the B b letter B b b
  • 32. GENETICS Square Constructing a Simple Punnett Step 6: Determine the genotypic and phenotypic proportions of the offspring Let the allele for purple flower be represented by the letter B B b F1 Genotypes: 50% Bb b Bb bb 50% bb F1 Phenotypes: 50% of the plants b Bb bb have purple flowers 50% of the plants have white flowers
  • 33. GENETICS A plant that is homozygous for purple flowers is crossed with a plant that has white flowers. If the purple condition is dominant over the white condition, what are the genotypes and phenotypes of the F1 generation? GIVEN: Let the allele for flower color be presented by the letter P Parent genotypes: PP X pp Parent gametes: P or P X p or p Parent # 1 gametes Results: P P Therefore the results of the PP x pp cross Parent # 2 Pp Pp indicate that: gametes p 25% 25% F1 genotypes: 100% are Pp (or 4 out of 4 are Pp) Pp Pp p F1 phenotypes: all plants 25% 25% have purple flowers
  • 34. GENETICS Sheep ranchers prefer white sheep over black sheep, because black fur is hard to die and is brittle. The allele for black fur is recessive. As a result, if a sheep rancher wishes to purchase a white fur sheep for breeding, how does she/he know if it will make black fur babies (in other words, how does the rancher know if her/his sheep is homozygous or heterozygous?)? A test cross can be performed to determine the genotype of a dominant phenotype, which involves breeding the unknown genotype with a homozygous recessive genotype. In this case the white sheep with an unknown genotype will be bred with a homozygous recessive black fur sheep.
  • 35. WHY WERE MENDEL’S FINDINGS IMPORTANT? Once we find traits that we like in an organism (for example, a dog), we can maintain these traits by mating closely related individuals for the purpose of maintaining or perpetuating these characteristics (this is called “inbreeding”)
  • 36. WHY WERE MENDEL’S FINDINGS IMPORTANT? -We can also mix traits that we like together from different species (in plants) -This process is called “hybridization”
  • 37. WHY WERE MENDEL’S FINDINGS IMPORTANT? Genetic Screening: -we can tell if an individual carries an allele (or two alleles) for genetic disorders -Amniocentesis and Chorionic Villus Sampling (CVS)
  • 38. WHY WERE MENDEL’S FINDINGS IMPORTANT? AMNIOCENTESIS: Looking at fetal cells from the amniotic fluid
  • 39. WHY WERE MENDEL’S FINDINGS IMPORTANT? CHORIONIC VILLUS SAMPLING (CVS): Sampling tiny fingerlike projections on the placenta Can be performed earlier (10th to 12th week of pregnancy) than amniocentesis
  • 40. THE STORY ISN’T AS SIMPLE… There are often more than 2 alleles per This is called gene… having multiple alleles for one …but each gene organism can ONLY have two different alleles for a trait at any one time We usually express these alleles like this: E1, E2, E3, E4
  • 41. THE STORY ISN’T AS SIMPLE… Codominance: Both alleles are expressed at the same time
  • 42. THE STORY ISN’T AS SIMPLE… Incomplete dominance: two alleles are equally dominant
  • 43. THE STORY ISN’T AS SIMPLE…
  • 44. SEX-LINKED TRAITS - Traits that are controlled by genes located on the sex chromosomes (usually the X chromosome) Ex: Duchenne muscular dystrophy, hemophilia, Charcot-Marie- Tooth disease and color blindness -Usually represented like this: XR Xr
  • 45. SEX-LINKED TRAITS Females get 2 X chromosomes: Protected by other X chromosome Males get ONE X chromosome: Disease!!!
  • 46. SEX-LINKED TRAITS Females get 2 X chromosomes: -1 gets turned off (called a Barr Body) -some cells have one X chromosome inactive, while other cells have the other inactive
  • 47. GENETICS Dihybrid cross So far what we have done is a monohybrid cross, which only involves one trait. What if you wanted to see how two different traits are passed on to the next generation? Male RrYy x Female RrYy
  • 48. GENETICS Dihybrid cross So far what we have done is a monohybrid cross, which only involves one trait. What if you wanted to see how two different traits are passed on to the next generation? Male RrYy x Female RrYy