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The Genetics of ColorBlindness

The Genetics of Color-Blindness

Dr. Rick Hershberger http://www.rickhershberger.com

The Genetics of 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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The Genetics of ColorBlindness

Anatomy of an Eyeball

The Genetics of ColorBlindness

The Retina Contains Two Types of Light-Detecting Cells


Rods See in shades of grey - Cannot distinguish different wavelengths (colors) of light. - More sensitive to low light. Used for nightvision. Cones See in colors - Three types of cones; differ in which photoreceptor protein (opsin) they make. - L-cones sense long-wavelength (red) light
- Make the long-wavelength opsin protein

- M-cones sense medium-wavelength (green) light


- Make the medium-wavelength opsin protein

- S-cones sense short-wavelength (blue) light


- Make the short-wavelength opsin protein
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The Genetics of ColorBlindness

Photoreceptor Proteins

The Genetics of ColorBlindness

How Color-Blind People See Things

What people with normal color vision see.

What a red-green color-blind person sees.


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The Genetics of ColorBlindness

Types of Color Vision Deficiencies


Trichromacy (three-color vision) - Normal Color Vision
Anomalous Trichromacy (unusual three-color vision) - See all three primary colors. - One color is seen weakly
- Protanomaly (L-cone defect) red-weak - Deuteranomaly (M-cone defect) green-weak - Tritanomaly (S-cone defect) blue-weak

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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The Genetics of ColorBlindness

How Color-Blind People See Things

Normal

Defect in L-cone (poor red vision)

Defect in M-cone (poor green vision)

Defect in S-cone (poor blue vision)


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The Genetics of ColorBlindness

Human cells have 46 chromosomes, organized as 23 pairs.

The Genetics of ColorBlindness

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.

The Genetics of ColorBlindness

The X Chromosome and X-Linked Traits

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The Genetics of ColorBlindness

Punnett Squares for X-linked Traits


Normal Jack Color-Blind Jack
Normal

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

Color-blind boys get their trait from their carrier moms.

Color-blind dads make ALL of their daughters carriers!


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The Genetics of ColorBlindness

Incidence of Color Vision Deficiencies

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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The Genetics of ColorBlindness

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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The Genetics of ColorBlindness

Pedigrees are Genetic Family Trees


normal males females affected

Boys are square? Girls are round?

dad

mom

son

daughter

son

daughter

first born

in order of birth

last born

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The Genetics of ColorBlindness

Genotypes and Phenotypes for Recessive Traits


For traits that are controlled by genes on the 22 pairs of autosomes (non-sex chromosomes)

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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The Genetics of ColorBlindness

Professor Hershbergers Rules for Interpreting Pedigrees


Step 1: Match a genotype to each phenotype. - If the individual exhibits the recessive phenotype, he/she is aa (or XaXa for an X-linked trait) - If the individual exhibits the dominant phenotype, he/she is A_ (or XA_ for an X-linked trait). Step 2: Where possible, track alleles (genes) UP the pedigree, from child to parent. - Because children get one allele from each parent. Step 3: Where possible, track alleles (genes) DOWN the pedigree, from parent to child. - Because each parent gives one of his/her alleles to each child.
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The Genetics of ColorBlindness

You are the Genetic Counselor.


Gretchen is a carrier for red-green colorblindness. How will Gretchens choice of husband affect whether her children will be color-blind?
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The Genetics of ColorBlindness

You are the Genetic Counselor!


What if Gretchen marries a man who has normal vision?
Possible Son-in-Law
2 2

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 Genetics of ColorBlindness

You are the Genetic Counselor!


What if Gretchen marries a man who is color-blind?
Possible Son-in-Law
2 2

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 Genetics of ColorBlindness

The Answers
What happens if Gretchen marries a man who has normal vision?

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The Genetics of ColorBlindness

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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The Genetics of ColorBlindness

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

The Sonin Law


1

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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The Genetics of ColorBlindness

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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The Genetics of ColorBlindness

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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The Genetics of ColorBlindness

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

The Genetics of ColorBlindness

ANSWER: Heres what happens if Gretchen marries a man who has normal vision?
Possible Son-in-Law
Using Prof. Hs Step #3:

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 Genetics of ColorBlindness

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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The Genetics of ColorBlindness

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

The Sonin Law


1 R XYY

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

The Genetics of ColorBlindness

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

The Sonin Law


1 R XYY

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%
30

probabilities

25%

25%

25%

25%

The Genetics of ColorBlindness

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 Genetics of ColorBlindness

The Answers
What happens if Gretchen marries a man who is red-green color-blind?

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The Genetics of ColorBlindness

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%

The Genetics of ColorBlindness

How will Gretchens choice of husband affect whether her children will be color-blind?

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The Genetics of ColorBlindness

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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