Colorblindness
Colorblindness
Colorblindness
Outline
How our Eyes See Colors Defects in Human Color Vision A Gene for Red-Green Color Blindness Inheritance X-Linkage Pedigree Analysis
- Testing my Daughters Prom Date?
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Anatomy of an Eyeball
Photoreceptor Proteins
Dichromacy (two-color vision) - See only two of the three primary colors - One type of cone is totally absent or nonfunctional.
- Protanopia (L-cone absent) - Deuteranopia (M-cone absent) - Tritanopia (S-cone absent)
Rod Monochromacy (no cones at all) (no-color vision) - Sees no colors, only shades of gray.
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Normal
X and Y: Our Sex Chromosomes Our 23rd pair of chromosomes are our sex chromosomes, because they determine which sex we are. Females have two X chromosomes. Males have one X chromosome and one Y chromosome.
- If you inherit a Y chromosome, you become a male. - The SRY gene on the Y 10 chromosome controls your gender.
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Carriers exhibit the dominant trait (are unaffected) but carry the defective allele and can pass the trait on to their children.
Carrier
XR
XRXR
girl
Y
XRY
boy
Xr
XRXr
girl
Y
XRY
boy
Jill
Jill
XR Xr
XR XR
XRXr
girl
XrY
boy
XRXr
girl
XRY
boy
Why are most kinds of color-blindness more common in men than women?
Classification Anomalous Trichromacy Protanomaly (L-cone defect) Deuteranomaly (M-cone defect) Tritanomaly (S-cone defect) Dichromacy Protanopia (L-cone absent) Deuteranopia (M-cone absent) Tritanopia (S-cone absent) Rod Monochromacy (no cones)
Incidence (%) Incidence (%) in Males in Females 6.3 1.3 5.0 0.0001 2.4 1.3 1.2 0.001 0.00001 0.37 0.02 0.35 0.0001 0.03 0.02 0.01 0.03 0.00001
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Punnett Squares for X-linked Traits: Why Color-Blindness is More Common in Males Normal Jack
Carrier
Color-Blind Jack
Carrier
XR
XRXR
girl
Y
XRY
boy
Xr
XRXr
girl
Y
XRY
boy
Jill
Jill
XR Xr
XR Xr
XRXr
girl
XrY
boy
XrXr
girl
XrY
boy
For a boy to be color-blind, he only needs to inherit ONE Xr allele, from his carrier mom.
For a girl to be colorblind, she must inherit TWO Xr alleles, one from her color-blind dad and one from her carrier mom.
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dad
mom
son
daughter
son
daughter
first born
in order of birth
last born
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dominant
recessive aa
males
A_
AA or Aa
Carriers exhibit the dominant trait (are unaffected) but carry the defective allele and can pass the trait on to their children!
females
carrier
A_
AA or Aa
aa recessive XaY
dominant
For traits that are controlled by genes on the X chromosome (X-linked traits)
males
XAY
females
carrier
XAX_
XAXA or XAXa
XaXa
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Gretchen
2 3 3
Rick
The Sonin Law
1 1
noncarrier
Pam
girl
2 3 3
boy
Gretchen
Gretchens Children
noncarrier
girl
boy
1: Label the pedigree chart with the genotypes of Rick, Pam, Gretchen, the sonin-law, and Gretchens possible children. 2: Enter Gretchens and her possible mates alleles into the Punnett Square above. 3: Determine the possible genotypes of their children from the Punnett Square. 4: Enter the probabilities for each of Gretchens possible children onto the pedigree chart.
carrier
genotypes
probabilities
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Gretchen
2 3 3
Rick
The Sonin Law
1 1
noncarrier
Pam
girl
2 3 3
boy
Gretchen
Gretchens Children
noncarrier
girl
boy
1: Label the pedigree chart with the genotypes of Rick, Pam, Gretchen, the sonin-law, and Gretchens possible children. 2: Enter Gretchens and her possible mates alleles into the Punnett Square above. 3: Determine the possible genotypes of their children from the Punnett Square. 4: Enter the probabilities for each of Gretchens possible children onto the pedigree chart.
carrier
genotypes
probabilities
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The Answers
What happens if Gretchen marries a man who has normal vision?
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Using Prof. Hs ANSWER: HeresStep what happens if Gretchen marries #1: Because Rick normal vision? a man who has is a
male, he has a Y.
Possible Son-in-Law
2
1 r
XYY
Gretchen
2 3
Using Prof. Hs Step #1: Because he is color3 blind, he has the mutant Xr allele.SonThe
Rick
noncarrier
Pam
girl
2 3 3
boy
in Law
1 1
Gretchen
girl
boy
noncarrier
1 1
1: Label the pedigree chart with the genotypes of Rick, Pam, Gretchen, the sonin-law, and Gretchens possible children. 2: Enter Gretchens and her possible mates alleles into the Punnett Square above. 3: Determine the possible genotypes of their children from the Punnett Square. 4: Enter the probabilities for each of Gretchens possible children onto the pedigree chart.
carrier
genotypes
probabilities
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ANSWER: Heres what happens if Gretchen marries a man who has normal vision?
Possible Son-in-Law
2 2
Using Prof. Hs Step #1: Because Pam is a female, she has two Xs.
Gretchen
2 3 3
Using Prof. Hs Step #1: Because she is NOT colorXrY blind, she must have at least one dominant normal Rick XR allele.
XXXR XRRX X
noncarrier
Pam
girl
2 3 3
boy
girl
boy
noncarrier
1 1
1: Label the pedigree chart with the genotypes of Rick, Pam, Gretchen, the sonin-law, and Gretchens possible children. 2: Enter Gretchens and her possible mates alleles into the Punnett Square above. 3: Determine the possible genotypes of their children from the Punnett Square. 4: Enter the probabilities for each of Gretchens possible children onto the pedigree chart.
genotypes
Using Prof. Hs Step #3: 1 Because Pams father and grandfather are not color-blind, and none of her brothers or nephews are, its likely that the Xr allele does not appear in carrier her pedigree. We can assume she did not inherit the Xr allele and is 1 1 1 thus NOT a carrier.
4 4 4
Gretchen
probabilities
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ANSWER: Heres what happens if Gretchen marries a man who has normal vision?
Possible Son-in-Law
2 2
Using Prof. Hs Step #1: Because Gretchen is a female, she has two Xs.
XrY
XRXR
noncarrier
Gretchen
2 3 3
Rick
The Sonin Law
1
Pam
girl
2 3 3
boy
Gretchen
1R r X RX XX XX
Using Prof. Hs Step #1: Because she is NOT colorgirl boy blind, she must have at least one dominant normal XR allele. 1: Label the pedigree chart with the
genotypes of Rick, Pam, Gretchen, the sonin-law, and Gretchens possible children. 2: Enter Gretchens and her possible mates alleles into the Punnett Square above. 3: Determine the possible genotypes of their children from the Punnett Square. 4: Enter the probabilities for each of Gretchens possible children onto the pedigree chart.
genotypes
probabilities
nonUsing Prof. Hs Step #2: carrier carrier To be a female, she had to inherit an X chromosome from 1 her father. Her fathers only X 1 1 1 r chromosome carries the X allele. Therefore, she must have 4 4 4 4 inherited her fathers Xr allele, and is thus a carrier.
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ANSWER: Heres what happens if Gretchen marries a man who has normal vision?
Possible Son-in-Law
2 2
XrY
XRXR
noncarrier
Gretchen
2
Using Prof. Hs Step #1: 3 3 Because the Sonin-Law is a male, girl has a Y. boy he
3 3
Rick
The Sonin Law
1 R XYY
Pam
Gretchen
1R r X RX XX XX
Using Prof. Hs Step girl #1: boy Because he is NOT color-blind, he must 1: Label the pedigree chart with the XR have a normal genotypes of Rick, Pam, Gretchen, the sonallele.
in-law, and Gretchens possible children. 2: Enter Gretchens and her possible mates alleles into the Punnett Square above. 3: Determine the possible genotypes of their children from the Punnett Square. 4: Enter the probabilities for each of Gretchens possible children onto the pedigree chart.
genotypes
noncarrier
1 1
carrier
probabilities
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ANSWER: Heres what happens if Gretchen marries a man who has normal vision?
Using Prof. Hs Step #3:
Possible Son-in-Law
2 2
XrY
Gretchen
Rick
The Sonin Law
1 R XYY
Using Prof. Hs Step #3:3 3 2 Daughters get Dads X chromosome, so all daughters will girl inherit a boy R allele and have normal X 3 normal color vision. 3 2
If Gretchen marries a man XRXR with normal color vision, they will NOT have any noncolor-blind daughters, since carrier Pam all daughters will inherit their dads normal XR allele.
Gretchen
1R r X RX XX XX
girl
boy
noncarrier
1
Using Prof. Hs Step #3: Sons get chart with the 1: Label the pedigree Dads Y chromosome. genotypes of Rick, Pam, Gretchen, the sonin-law, and Gretchens possible children. 2: Enter Gretchens and her possible mates alleles into the Punnett Square above. 3: Determine the possible genotypes of their Using Prof. Hs Step #1: children from the Punnett Square. 4: Enter the probabilities for each of Males are XY. Gretchens possible children onto the Females are XX. pedigree chart.
carrier
genotypes
XY
XRX XX
XRX XX
XY
XrXr XX 0%
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probabilities
ANSWER: Heres what happens if Gretchen marries a man who has normal vision?
Possible Son-in-Law
Using Prof. Hs Step #3:
The probability that 2 any son 2 will be color-blind will be determined by their odds of Gretchen 3 inheriting 3 the XR or Xr allele 2 from Gretchen. The Sonin Law girl boy
2 3 3
The probability that any daughter R XrY XRX will be a carrier will be determined by nontheir odds of inheriting the XR or Xr Rick carrier Pam allele from Gretchen.
Gretchen
1R r X RX XX XX
1 R XYY
girl
boy
noncarrier carrier
1: Label the pedigree chart with the genotypes of Rick, Pam, Gretchen, the sonin-law, and Gretchens possible children. 2: Enter Gretchens and her possible mates alleles into the Punnett Square above. 3: Determine the possible genotypes of their children from the Punnett Square. 4: Enter the probabilities for each of Gretchens possible children onto the pedigree chart.
genotypes
XRY XY
4
XRRXR XX
4
XRXr XRX
4
XrY XY
4
XrXr XX 0%
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probabilities
The other parents alleles are used as ANSWER: Heres what happens if Gretchen marries column headings. These represent the a man who has normal vision? genotypes of the gametes formed by
Possible Son-in-Law
2
that parent. In this case, these are the Son-in-Laws possible sperm cells.
XrY
XRXR
noncarrier
Gretchen
2 3
XR
Y
The Sonin Law
Rick
Pam
XR
girl boy
3 3
Gretchen
1R r X RX XX XX
Xr
girl boy
1 R XYY
1: Label the pedigree chart with the genotypes of Rick, Pam, Gretchen, the sonin-law, and Gretchens possible children. 2: Enter Gretchens and her possible mates alleles into the Square Square above. A Punnett Punnett is used to 3: Determine the possible genotypes of their calculate the probabilities childrenof various possible from the Punnett Square. 4: Enter the probabilities for each of offspring. Gretchens possible children onto the pedigree chart.
noncarrier
carrier
One parents alleles are used as row genotypes XRY headings. These represent the Xr XY XRRXR XX XR X XR genotypes of the gametes formed by 4 4 that parent. In this 4 case, these are probabilities Gretchens possible egg cells.
XrY XY
4
XrXr XX 0%
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ANSWER: Heres what happens if Gretchen marries a man who has normal vision?
Possible Son-in-Law
2 2
Gretchen
2 3
XR
Y
XRY Y
boy
X parents Carry the one Y alleles down within each column. Rick
r
XRXR
noncarrier
Pam
XR
3
XRXR XR
girl
Gretchen
1R r X RX XX XX
Xr
XRXr XR
girl
XrY Y
boy
1: Label the pedigree chart with the genotypes of Rick, Pam, Gretchen, the sonin-law, and Gretchens possible children. Carry the other parents alleles 2: Enter Gretchens and her possible mates across within each row. alleles into the Punnett Square above. 3: Determine the possible genotypes of their children from the Punnett Square. 4: Enter the probabilities for each of Gretchens possible children onto the pedigree chart.
noncarrier
carrier
genotypes
XRY XY
4
XRRXR XX
4
XRXr XRX
4
XrY XY
4
XrXr XX 0%
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probabilities
ANSWER: Heres what happens if Gretchen marries a man who has normal vision?
Possible Son-in-Law
2 2
Gretchen
2 3
XR
Y
XRY Y
boy
XR
3
XRXR XR
girl
If Gretchen marries a man with normal colorvision, each of their children will have a 25% XrY XRXR chance of being either a male with normal color vision nona male with color-blindness Rick carrier Pam a female non-carrier a female carrier
Gretchen
1R r X RX XX XX
Xr
XRXr XR
girl
XrY Y
boy
1: Label the pedigree chart with the genotypes of Rick, Pam, Gretchen, the sonin-law, and Gretchens possible children. 2: Enter Gretchens and her possible mates alleles into the Punnett Square above. 3: Determine the possible genotypes of their children from the Punnett Square. 4: Enter the probabilities for each of Gretchens possible children onto the pedigree chart.
noncarrier
carrier
genotypes
XRY XY
4
XRRXR XX
4
XRXr XRX
4
XrY XY
4
XrXr XX 0%
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probabilities
25%
25%
25%
25%
ANSWER: Heres what happens if Gretchen marries a man who has normal vision?
Possible Son-in-Law
2
XrY
XRXR
noncarrier
Gretchen
2 3
XR
Y
XRY Y
boy The Sonin Law
Rick
Pam
XR
3
XRXR XR
girl
Gretchen
1R r X RX XX XX
Xr
XRXr XR
girl
XrY Y
boy
1 R XYY
If Gretchen marries a man with normal color-vision, half of their sons will be color-blind, none of their daughters will be color-blind, half of their daughters will be carriers.
noncarrier
carrier
genotypes
XRY XY
4
XRRXR XX
4
XRXr XRX
4
XrY XY
4
XrXr XX 0%
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probabilities
25%
25%
25%
25%
The Answers
What happens if Gretchen marries a man who is red-green color-blind?
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ANSWER: Heres what happens if Gretchen marries a man who is red-green color-blind?
Possible Son-in-Law
2
XrY
XRXR
noncarrier
Gretchen
2 3
Xr
Y
XRY Y
boy The Sonin Law
Rick
Pam
XR
3
XRXr XR
girl
Gretchen
1R r X RX XX XX
Xr
R XrXr
XrY Y
boy
1 r XYY
girl
If Gretchen marries a man with red-green color-blindness, half of their sons will be color-blind, half of their daughters will be color-blind, the other half of their daughters will be carriers.
noncarrier
carrier
genotypes
XRY XY
4
XRRXR XX
4
XRXr XRX
4
XrY XY
4
XrXr XX
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probabilities
25%
0%
25%
25%
25%
How will Gretchens choice of husband affect whether her children will be color-blind?
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How will Gretchens choice of husband affect whether her children will be color-blind?
If Gretchen marries a man with red-green color-blindness, half of their sons will be color-blind, half of their daughters will be colorblind, half of their daughters will be carriers.
If Gretchen marries a man with normal color-vision, half of their sons will be color-blind, none of their daughters will be colorblind, half of their daughters will be carriers.
Normal Son-in-Law
2
Color-Blind Son-in-Law
2
Gretchen
XR
Y
XRY
boy
Gretchen
Xr
Y
XRY
boy
XR
XRXR
girl
XR
XRXr
girl
Xr
XRXr
girl
XrY
boy
Xr
XrXr
girl
XrY
boy
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