inheritance 2 pedigreesdstratto/bcor12/0214_inheritance2.pdf · – incomplete dominance –...
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Inheritance 2
• Pedigrees • Rules of Probability • Variations
– Incomplete Dominance – Co-dominance – Epistasis – Polygenic traits
• Genes are on chromosomes
• Sex linkage – Pedigrees for sex-linked
traits 14 February 2020
Pedigrees
Key Male
Female
Affected male Affected female
Mating
Offspring, in birth order (first-born on left)
If one unaffected parent tests positive and the other tests negative for a recessive allele associated with a genetic disorder then � • What is the probability that
their first child will have the disorder?
• Let’s assume that the first
child does not have the disease. What is the probability that she is a carrier?
Rules of probability
• �And� rule – The probability of both of two independent events
is the product of the probabilities
• �Or� rule: – The probability of either of two independent and
mutually exclusive events is the sum of the probabilities
Phenotype and Genotype
Sperm
Eggs
P
PPP Pp
p
pPp pp
3 1
Genotype ratio: 1:2:1 Phenotype ratio: 3:1 (because purple is dominant to white).
Pp x Pp Dominant mutations:�
gain-of-function
Recessive mutations:
loss-of-function
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Incomplete Dominance
Heterozygote is intermediate
Codominance Human Blood Groups Phenotype Genotype Type A IA IA or IA i Type B IB IB or IB i Type AB IA IB Type O ii
In type AB, IA IB are codominant.
The individual expresses both phenotypes.
Fig. 14-11
GenotypeRed blood cell
appearancePhenotype
(blood group)
IAIA or IA i A
BIBIB or IB i
IAIB AB
ii O
Epistasis: interactions among loci
Gene E determines whether dark pigment is deposited or not
Gene B determines color of pigment (Black or brown)
Black or Brown
pigment or no pigment
Yellow base color
B-E- Black bbE- Brown --ee Yellow
If no pigment is deposited (ee), it doesn�t matter what allele is present at the B locus
What phenotype ratio of offspring do you expect if you cross two heterozygous black labs (BbEe x BbEe)?
BE Be bE be BE BBEE BBEe BbEE BbEe
Be BBEe BBee BbEe Bbee
bE BbEE BbEe bbEE bbEe
be BbEe Bbee bbEe bbee
Epistasis example: In Morning Glories, two independent genes (A and B) are in the pathway that produces blue pigment. The recessive allele of each (a and b) produce nonfunctional enzymes so each recessive homozygote has white flowers.
• If you cross two different pure-breeding white strains (AAbb x aaBB), what phenotype ratio will you observe in the offspring?
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Blue pigment Enzyme A Enzyme B
Enzyme a Enzyme b
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Multiple Genes
Eggs
Sperm
Phenotypes: Number of dark-skin alleles: 0 1 2 3 4 5 6
1/64 6/64 15/64 20/64 15/64 6/64 1/64
1/8
1/8
1/8
1/8
1/8
1/8
1/8
1/8
1/8 1/8 1/8 1/8 1/8 1/8 1/8 1/8
AaBbCc AaBbCc
×
Human height is controlled by many genes
Genes are on Chromosomes
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Nettie Stevens (1861�1912) X-Y chromosomes
Thomas Morgan (1866�1945) Linked genes
The mechanism of sex determination can vary
Male Female • Mammals: XY XX • Birds & Butterflies ZZ ZW • Grasshoppers XX X • etc
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Data from T. H. Morgan, Sex-limited inheritance in Drosophila, Science 32:120–122 (1910).
Sex Linked Trait P
Generation
F1 Generation
Eggs
F2 Generation
Sperm
Sperm
Eggs
X X
X Y
w+
w+
w
w+ w+
w
w+
w+
w
w+
w+
w
w+
w
w+
w+
w
×