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Fundamentals of
Genetics
Chapter 9
Heredity: the transmission of genetic
information from one generation to the next
information from one generation to the next.
Genes
Genes:
Provide continuity between generations that is
Provide continuity between generations that is
essential for life
Control to a large extent the structure, function, &
The info. bank of the cell
Control to a large extent the structure, function, &
development of an organism during each generation
Store the info. in a molecular code
Provide a set of instructions, a genetic
, g
program, for the development of an
individual
M d li G ti
Mendelian Genetics
Gregor Mendel
Gregor Mendel
• Trained mathematician
& natural scientist who
discovered the basic
rules of heredity
rules of heredity
• Interested in the
inheritance of animal &
plant features --- traits
or characteristics
Hybrid: offspring expressing traits from both
parents
• Experiments differed in 4 important ways from those
of other scientists:
of other scientists:
a. He concentrated on one trait at time
b. He used large #’s of organisms so that his
b. He used large # s of organisms so that his
data was statistically sound
c. He combined the results of many identical
i t
experiments
d. He used the rules of probability to analyze his
results
results
Mendel experimented with
p
Pea Plants
• He chose strains that showed 2 different forms of the
same trait.
same trait.
ex: length - tall/short green/yellow seed color
• Worked with 7 different traits in pea plants:
a. seed shape – round, wrinkled
b. seed color – yellow, green
c. flower color – colored, white
d. pod shape – inflated, constricted
d l ll
e. pod color – green, yellow
f. flower position – axial, terminal
g stem length – long short
g. stem length – long, short
Pollination: when pollen grains produced in
the male reproductive parts of a flower
the male reproductive parts of a flower,
called the anthers, are transferred to the
female reproductive part, called the stigma.
p p g
Self-pollination: when pollen is transferred
p p
from the anthers of a flower to the stigma of
either that flower or another flower of the
same plant.
Cross-pollination: occurs between flowers of
two plants.
• In his 1st experiment, he crossed pure-breeding
p , p g
plants round seeds with pure-breeding wrinkled
seeds P1 = Parental generation
All were round seeds
In his 2nd experiment, he allowed these seeds to grow &
self-pollinate F1 = Filial Generation
¾ round (75%) ¼ wrinkled (25%)
Chromosomes
Chromosomes
GENES
Sex cell Body cell
Predict:
Predict:
To make a statement with a certain amount of
confidence
confidence.
What is the probability of the number 5 coming up on
one roll of the die?
Ans. = 1/6
Prediction in heredity is expressed in terms of
probability
probability
2 types of GENES:
d i t ti t lli
dominant: exerting a controlling
influence on the expression of a trait.
recessive: the one that disappears
temporarily.
Dominant Recessive
• Assigned symbols to different genes
Assigned symbols to different genes
ex: R – dominant gene (round)
ex: R – dominant gene (round)
r – recessive gene (wrinkled)
Alleles: the 2 different forms of one gene R & r
RR purebreed for round
RR – purebreed for round
rr – purebreed for wrinkled
Homozygous: having both alleles the same
RR or rr
Heterozygous: the 2 paired alleles have different
Heterozygous: the 2 paired alleles have different
genetic information
Rr
Genotype: the genetic makeup of the organism It does
Genotype: the genetic makeup of the organism. It does
not tell us what the organism will look like
Phenotype: the description of an organism’s appearance
Mendel’s Laws
Mendel s Laws
Law of Segregation: a pair of factors is segregated, or
g g p g g ,
separated, during the formation of gametes.
Each gamete receives one trait for each pair.
Law of Independent Assortment: factors separate
Law of Independent Assortment: factors separate
independently of one another during the formation of
gametes.
PUNNETT SQUARES
PUNNETT SQUARES
A way to show which genes can combine
A way to show which genes can combine
when egg and sperm join.
capital letter  Dominant
capital letter 
lower case 
l b f F
Dominant
Recessive
ex: earlobes free
attached
F
f
FF
Ff
Pure Dominant Free
Heterozygous Free
Ff
ff
Heterozygous Free
Pure Recessive Attached
MONOHYBRID
MONOHYBRID
CROSS
CROSS
Cross a homozygous free earlobes male
Cross a homozygous free earlobes male
with a homozygous free earlobes
female.
female.
To Determine Possible
C bi i
Combinations:
1. Set up the key.
2. Determine the cross.
3. Draw a Punnett Square.
3. Draw a Punnett Square.
4. Decide what kind of genes will be in the sex
cells of each parent Write the letters for the
cells of each parent. Write the letters for the
father on top.
FF x FF
FF x FF
F F
5. Write the letters for the mother on the left
side
side.
F
F
F
6. Copy the letters that appear on top into each
box below each letter.
7. Copy the letters that appear on the side into
each box.
F F
F F
F
F
F
F
8. Look at the small boxes to determine
combination.
Expected Results: GENOTYPE - the genetic makeup of
the organism It does not tell us what it will look like
the organism. It does not tell us what it will look like.
Observed Results: PHENOTYPE – the description of an
organisms appearance.
g pp
F F FF
Genotype
FF 100% 4 out of 4
F F FF
Phenotype
FF FF
yp
Free earlobes 100% 4 out of 4
In pea plants, red flowers are dominant over
white flowers A heterozygous red flower is
white flowers. A heterozygous red flower is
allowed to self-pollinate. What are the
probable genotypic & phenotypic ratios in
p g yp p yp
the offspring of this plant?
In a pea plant, yellow seeds (A) are dominant over
green seeds (a)
green seeds (a).
In pea plants, red flowers are dominant over
white flowers A heterozygous red flower is
white flowers. A heterozygous red flower is
allowed to self-pollinate. What are the
probable genotypic & phenotypic ratios in
p g yp p yp
the offspring of this plant?
In a pea plant, yellow seeds (A) are dominant over
green seeds (a)
green seeds (a).
Determine the probable color of the seeds
d d b l t h t i
produced by pea plants whose one parent is
heterozygous yellow and the other parent is
green
green.
In guinea pigs rough coat is dominant
In guinea pigs, rough coat is dominant
and smooth coat is recessive. Two
heterozygous guinea pigs were
heterozygous guinea pigs were
crossed. What are the genotypic and
phenotypic ratios of the offspring?
phenotypic ratios of the offspring?
In the fruit fly, wings (A) are dominant over a
In the fruit fly, wings (A) are dominant over a
lack of wings (a) and red eyes (E) are
dominant over sepia eyes (e). A wingless fly
that is heterozygous for eye color is crossed
w/a fly that is heterozygous for both eye
l d f i
color and presence of wings.
What are the genotypic & phenotypic ratios of
this cross?
this cross?
Step 1: Set up the key
Step 1:
A – wings E – red eyes
Set up the key
A wings E red eyes
a - lack of wings e – sepia eyes
Step 2: Write the cross
aaEe x AaEe
Step 3: Split the letters and
Step 3: Split the letters and
separate with parenthesis
(a+a)(E+e) x (A+a)(E+e)
Step 4: Use FOIL Method to
Step 4:
determine alleles
F - first O - outer I - inner L - last
F - first O - outer I - inner L - last
(a+a)(E+e) x (A+a)(E+e)
aE + ae + aE + ae x
( )( ) ( )( )
AE + Ae + aE + ae
Step 5:
Set up Punnett Square. Place one
set of alleles on top and the other
Step 5: set of alleles on the side.
aE ae aE ae
AE
AE
A
Ae
aE
ae
Step 6: Fill in each square with
the corresponding letters
p
the corresponding letters.
aE ae aE ae
aE ae aE ae
AE AaEE AaEe AaEE AaEe
Ae AaEe Aaee AaEe Aaee
aE aaEE aaEe aaEE aaEe
aE
ae
aaEE aaEe aaEE aaEe
aaEe aaee aaEe aaee
ae aaEe aaee aaEe aaee
Step 6: Determine the Genotype &
Phenotype
Phenotype
aE ae aE ae
Genotype
AE AaEE AaEe AaEE AaEe
AaEE - 2
AaEe - 4
Ae AaEe Aaee AaEe Aaee Aaee - 2
aaEE - 2
aE aaEE aaEe aaEE aaEe
aaEE - 2
aaEe - 4
2
ae aaEe aaee aaEe aaee
aaee - 2
1:2:1:1:2:1
aE ae aE ae
AE AaEE AaEe AaEE AaEe
6:2:6:2
Ae AaEe Aaee AaEe Aaee 3:1:3:1
aE aaEE aaEe aaEE aaEe
ae aaEe aaee aaEe aaee
Phenotypes:
Wings, red eyes - 6 Wingless, red eyes - 6
Wings, sepia eyes - 2 Wingless, sepia eyes - 2
I h hit f it l (W)
In summer squash, white fruit color (W)
is dominant over yellow fruit color (w)
d di k h d f it (D) i d i t
and disk-shaped fruit (D) is dominant
over sphere-shaped fruit (d). If a
h l t t b di f hit
squash plant true-breeding for white,
disk-shaped fruit is crossed with a
plant tr e breeding for ello sphere
plant true-breeding for yellow, sphere-
shaped fruit, what will the phenotypic
and genotypic ratios be for the
and genotypic ratios be for the
offspring?
Incomplete Dominance
Incomplete Dominance
A case in which neither gene is totally
A case in which neither gene is totally
dominant to the other.
The new trait is a blend of the dominant
The new trait is a blend of the dominant
and recessive traits.
Red four o’clock flowers have the genotype RR and
white flowers have the genotype rr. What is expected in
white flowers have the genotype rr. What is expected in
the offspring from a cross between red and white
flowers?
All flowers will be PINK
What would be expected in the offspring
What would be expected in the offspring
from a cross between 2 pink four
o’clocks?
o clocks?
What would be expected in the cross
between pink four o’clocks and a
between pink four o’clocks and a
white? Pink and red?
Multiple Alleles
Multiple Alleles
More than 2 kinds of alleles for any trait
More than 2 kinds of alleles for any trait.
Resulting in more than 3 phenotypes.
N ll i di id l h l 2 f th
Normally an individual has only 2 of these
alleles for any trait – One gene from the
male the other from
male, the other from
the female.
BLOOD
Types: A
B
B
AB ABO System
O
ABO types are determined by 3 alleles:
IA IB ii
IA IB ii
• Allele IA causes the formation of blood
Allele I causes the formation of blood
factor A.
• Allele IB causes the formation of blood
• Allele IB causes the formation of blood
factor B.
All l i d t ith f t t
• Allele i does not cause either factor to
form.
GENOTYPE BLOOD TYPE
IAIA or IAi A
AA or AO
IBIB or IBi B
IAIB AB
BB or BO
AB
IAIB AB
ii O
AB
OO
The major blood types in humans are
inherited as multiple genes that also
inherited as multiple genes that also
illustrate incomplete dominance. What
would be the possible blood types of
would be the possible blood types of
the offspring in each of the following
matings?
matings?
ii x IBi IAIA x IBIB IAi x IAIB
If a mother belongs to group O and her child has
type A, which blood groups can the father not
yp , g p
belong?
X – linked Traits
X linked Traits
A trait determined by alleles that are
A trait determined by alleles that are
carried by the X chromosomes but are
absent from Y chromosomes
absent from Y chromosomes.
Recessive traits controlled by X-linked
genes are expressed in males. There are no
g p
alleles for the dominant trait to mask them.
I f l i X li k d t it
In females, a recessive X-linked trait
does not appear unless there are 2
alleles for that trait, one in each of her X
chromosomes.
Color Blindness
Color Blindness
Problem in which red & green look like shades
Problem in which red & green look like shades
of gray or other colors.
C – dominant
c recessive
c - recessive
female
CC
Cc
Red/green
Red/green
cc colorblind
CY Red/green
male
cY
g
colorblind
What would happen if a woman with Cc
genes and a man with a c gene on his X
genes and a man with a c gene on his X
chromosome had children?
C c
1 h t d/ f l
c Cc cc
1 heterozygous red/green female
1 colorblind female
1 normal male
1 colorblind male
Y CY cY
1 colorblind male
HEMOPHILIA
HEMOPHILIA
Disorder in which a person’s blood does not
Disorder in which a person s blood does not
clot. Bleeding from a cut or bruise may take
hours to stop. Almost always shows up in
male children.

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Biology_FundamentalsOfGenetics(A).pdf

  • 2.
  • 3. Heredity: the transmission of genetic information from one generation to the next information from one generation to the next. Genes Genes: Provide continuity between generations that is Provide continuity between generations that is essential for life Control to a large extent the structure, function, & The info. bank of the cell Control to a large extent the structure, function, & development of an organism during each generation Store the info. in a molecular code Provide a set of instructions, a genetic , g program, for the development of an individual
  • 4. M d li G ti Mendelian Genetics
  • 5. Gregor Mendel Gregor Mendel • Trained mathematician & natural scientist who discovered the basic rules of heredity rules of heredity • Interested in the inheritance of animal & plant features --- traits or characteristics Hybrid: offspring expressing traits from both parents
  • 6. • Experiments differed in 4 important ways from those of other scientists: of other scientists: a. He concentrated on one trait at time b. He used large #’s of organisms so that his b. He used large # s of organisms so that his data was statistically sound c. He combined the results of many identical i t experiments d. He used the rules of probability to analyze his results results Mendel experimented with p Pea Plants
  • 7. • He chose strains that showed 2 different forms of the same trait. same trait. ex: length - tall/short green/yellow seed color • Worked with 7 different traits in pea plants: a. seed shape – round, wrinkled b. seed color – yellow, green c. flower color – colored, white d. pod shape – inflated, constricted d l ll e. pod color – green, yellow f. flower position – axial, terminal g stem length – long short g. stem length – long, short
  • 8.
  • 9. Pollination: when pollen grains produced in the male reproductive parts of a flower the male reproductive parts of a flower, called the anthers, are transferred to the female reproductive part, called the stigma. p p g Self-pollination: when pollen is transferred p p from the anthers of a flower to the stigma of either that flower or another flower of the same plant. Cross-pollination: occurs between flowers of two plants.
  • 10. • In his 1st experiment, he crossed pure-breeding p , p g plants round seeds with pure-breeding wrinkled seeds P1 = Parental generation All were round seeds In his 2nd experiment, he allowed these seeds to grow & self-pollinate F1 = Filial Generation ¾ round (75%) ¼ wrinkled (25%)
  • 12. Predict: Predict: To make a statement with a certain amount of confidence confidence. What is the probability of the number 5 coming up on one roll of the die? Ans. = 1/6 Prediction in heredity is expressed in terms of probability probability
  • 13. 2 types of GENES: d i t ti t lli dominant: exerting a controlling influence on the expression of a trait. recessive: the one that disappears temporarily. Dominant Recessive
  • 14. • Assigned symbols to different genes Assigned symbols to different genes ex: R – dominant gene (round) ex: R – dominant gene (round) r – recessive gene (wrinkled) Alleles: the 2 different forms of one gene R & r RR purebreed for round RR – purebreed for round rr – purebreed for wrinkled
  • 15. Homozygous: having both alleles the same RR or rr Heterozygous: the 2 paired alleles have different Heterozygous: the 2 paired alleles have different genetic information Rr Genotype: the genetic makeup of the organism It does Genotype: the genetic makeup of the organism. It does not tell us what the organism will look like Phenotype: the description of an organism’s appearance
  • 16. Mendel’s Laws Mendel s Laws Law of Segregation: a pair of factors is segregated, or g g p g g , separated, during the formation of gametes. Each gamete receives one trait for each pair. Law of Independent Assortment: factors separate Law of Independent Assortment: factors separate independently of one another during the formation of gametes.
  • 17. PUNNETT SQUARES PUNNETT SQUARES A way to show which genes can combine A way to show which genes can combine when egg and sperm join. capital letter  Dominant capital letter  lower case  l b f F Dominant Recessive ex: earlobes free attached F f FF Ff Pure Dominant Free Heterozygous Free Ff ff Heterozygous Free Pure Recessive Attached
  • 18. MONOHYBRID MONOHYBRID CROSS CROSS Cross a homozygous free earlobes male Cross a homozygous free earlobes male with a homozygous free earlobes female. female.
  • 19. To Determine Possible C bi i Combinations: 1. Set up the key. 2. Determine the cross. 3. Draw a Punnett Square. 3. Draw a Punnett Square.
  • 20. 4. Decide what kind of genes will be in the sex cells of each parent Write the letters for the cells of each parent. Write the letters for the father on top. FF x FF FF x FF F F
  • 21. 5. Write the letters for the mother on the left side side. F F F
  • 22. 6. Copy the letters that appear on top into each box below each letter. 7. Copy the letters that appear on the side into each box. F F F F F F F F
  • 23. 8. Look at the small boxes to determine combination. Expected Results: GENOTYPE - the genetic makeup of the organism It does not tell us what it will look like the organism. It does not tell us what it will look like. Observed Results: PHENOTYPE – the description of an organisms appearance. g pp F F FF Genotype FF 100% 4 out of 4 F F FF Phenotype FF FF yp Free earlobes 100% 4 out of 4
  • 24. In pea plants, red flowers are dominant over white flowers A heterozygous red flower is white flowers. A heterozygous red flower is allowed to self-pollinate. What are the probable genotypic & phenotypic ratios in p g yp p yp the offspring of this plant? In a pea plant, yellow seeds (A) are dominant over green seeds (a) green seeds (a).
  • 25. In pea plants, red flowers are dominant over white flowers A heterozygous red flower is white flowers. A heterozygous red flower is allowed to self-pollinate. What are the probable genotypic & phenotypic ratios in p g yp p yp the offspring of this plant? In a pea plant, yellow seeds (A) are dominant over green seeds (a) green seeds (a). Determine the probable color of the seeds d d b l t h t i produced by pea plants whose one parent is heterozygous yellow and the other parent is green green.
  • 26. In guinea pigs rough coat is dominant In guinea pigs, rough coat is dominant and smooth coat is recessive. Two heterozygous guinea pigs were heterozygous guinea pigs were crossed. What are the genotypic and phenotypic ratios of the offspring? phenotypic ratios of the offspring?
  • 27.
  • 28. In the fruit fly, wings (A) are dominant over a In the fruit fly, wings (A) are dominant over a lack of wings (a) and red eyes (E) are dominant over sepia eyes (e). A wingless fly that is heterozygous for eye color is crossed w/a fly that is heterozygous for both eye l d f i color and presence of wings. What are the genotypic & phenotypic ratios of this cross? this cross?
  • 29. Step 1: Set up the key Step 1: A – wings E – red eyes Set up the key A wings E red eyes a - lack of wings e – sepia eyes Step 2: Write the cross aaEe x AaEe
  • 30. Step 3: Split the letters and Step 3: Split the letters and separate with parenthesis (a+a)(E+e) x (A+a)(E+e)
  • 31. Step 4: Use FOIL Method to Step 4: determine alleles F - first O - outer I - inner L - last F - first O - outer I - inner L - last (a+a)(E+e) x (A+a)(E+e) aE + ae + aE + ae x ( )( ) ( )( ) AE + Ae + aE + ae
  • 32. Step 5: Set up Punnett Square. Place one set of alleles on top and the other Step 5: set of alleles on the side. aE ae aE ae AE AE A Ae aE ae
  • 33. Step 6: Fill in each square with the corresponding letters p the corresponding letters. aE ae aE ae aE ae aE ae AE AaEE AaEe AaEE AaEe Ae AaEe Aaee AaEe Aaee aE aaEE aaEe aaEE aaEe aE ae aaEE aaEe aaEE aaEe aaEe aaee aaEe aaee ae aaEe aaee aaEe aaee
  • 34. Step 6: Determine the Genotype & Phenotype Phenotype aE ae aE ae Genotype AE AaEE AaEe AaEE AaEe AaEE - 2 AaEe - 4 Ae AaEe Aaee AaEe Aaee Aaee - 2 aaEE - 2 aE aaEE aaEe aaEE aaEe aaEE - 2 aaEe - 4 2 ae aaEe aaee aaEe aaee aaee - 2 1:2:1:1:2:1
  • 35. aE ae aE ae AE AaEE AaEe AaEE AaEe 6:2:6:2 Ae AaEe Aaee AaEe Aaee 3:1:3:1 aE aaEE aaEe aaEE aaEe ae aaEe aaee aaEe aaee Phenotypes: Wings, red eyes - 6 Wingless, red eyes - 6 Wings, sepia eyes - 2 Wingless, sepia eyes - 2
  • 36. I h hit f it l (W) In summer squash, white fruit color (W) is dominant over yellow fruit color (w) d di k h d f it (D) i d i t and disk-shaped fruit (D) is dominant over sphere-shaped fruit (d). If a h l t t b di f hit squash plant true-breeding for white, disk-shaped fruit is crossed with a plant tr e breeding for ello sphere plant true-breeding for yellow, sphere- shaped fruit, what will the phenotypic and genotypic ratios be for the and genotypic ratios be for the offspring?
  • 37. Incomplete Dominance Incomplete Dominance A case in which neither gene is totally A case in which neither gene is totally dominant to the other. The new trait is a blend of the dominant The new trait is a blend of the dominant and recessive traits. Red four o’clock flowers have the genotype RR and white flowers have the genotype rr. What is expected in white flowers have the genotype rr. What is expected in the offspring from a cross between red and white flowers? All flowers will be PINK
  • 38. What would be expected in the offspring What would be expected in the offspring from a cross between 2 pink four o’clocks? o clocks? What would be expected in the cross between pink four o’clocks and a between pink four o’clocks and a white? Pink and red?
  • 39. Multiple Alleles Multiple Alleles More than 2 kinds of alleles for any trait More than 2 kinds of alleles for any trait. Resulting in more than 3 phenotypes. N ll i di id l h l 2 f th Normally an individual has only 2 of these alleles for any trait – One gene from the male the other from male, the other from the female.
  • 40. BLOOD Types: A B B AB ABO System O ABO types are determined by 3 alleles: IA IB ii IA IB ii
  • 41. • Allele IA causes the formation of blood Allele I causes the formation of blood factor A. • Allele IB causes the formation of blood • Allele IB causes the formation of blood factor B. All l i d t ith f t t • Allele i does not cause either factor to form.
  • 42. GENOTYPE BLOOD TYPE IAIA or IAi A AA or AO IBIB or IBi B IAIB AB BB or BO AB IAIB AB ii O AB OO
  • 43. The major blood types in humans are inherited as multiple genes that also inherited as multiple genes that also illustrate incomplete dominance. What would be the possible blood types of would be the possible blood types of the offspring in each of the following matings? matings? ii x IBi IAIA x IBIB IAi x IAIB If a mother belongs to group O and her child has type A, which blood groups can the father not yp , g p belong?
  • 44. X – linked Traits X linked Traits A trait determined by alleles that are A trait determined by alleles that are carried by the X chromosomes but are absent from Y chromosomes absent from Y chromosomes. Recessive traits controlled by X-linked genes are expressed in males. There are no g p alleles for the dominant trait to mask them. I f l i X li k d t it In females, a recessive X-linked trait does not appear unless there are 2 alleles for that trait, one in each of her X chromosomes.
  • 45. Color Blindness Color Blindness Problem in which red & green look like shades Problem in which red & green look like shades of gray or other colors.
  • 46. C – dominant c recessive c - recessive female CC Cc Red/green Red/green cc colorblind CY Red/green male cY g colorblind
  • 47. What would happen if a woman with Cc genes and a man with a c gene on his X genes and a man with a c gene on his X chromosome had children? C c 1 h t d/ f l c Cc cc 1 heterozygous red/green female 1 colorblind female 1 normal male 1 colorblind male Y CY cY 1 colorblind male
  • 48. HEMOPHILIA HEMOPHILIA Disorder in which a person’s blood does not Disorder in which a person s blood does not clot. Bleeding from a cut or bruise may take hours to stop. Almost always shows up in male children.