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Genetics 3
Ch 3
43
Biology
Undergraduate 3
02/23/2012

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Term
Incomplete Dominance
Definition
neither of the two traits
are seen in the F1 of a cross of two pure breeding traits. Examples: flower colors, blooming time in peas
Term
Codominance is when
Definition
both alternative traits are
expressed in the F1 of a cross of two pure example: spotted or dotted lentil plants.
breeding parents.
Term
There may be deviations from ______
and ________
• Variants are not restricted to two ______.
• A single gene may affect _______
• A single phenotype may be the result of __________
actions and _________.
Definition
complete dominance, recessivness. allelic forms. Multiple phenotypes.
multiple gene actions, environmental factors.
Term
In a given individual, there can be only ___________ for
a given gene _______.
• The dominance relationships are between the_________, and need not be the same for each
allele pair of a given locus.
Definition
2 alleles, locus. 2 coexisting alleles.
Term
Three different alleles for blood type in humans
Definition
I^A, I^B and i.
Term
There are 4 different blood group
phenotypes:
Definition
A, B, AB and O.
Term
Biochemical basis for blood type in humans
Definition
– Complex membrane anchored molecules that
cause a variation in the structure of the sugar
polymer on the cell surface.
– Three possibilities: Sugar type A, B or none.
Term
I^AI^A or I^A i
Definition
Type A in blood.
Term
IBIB IBi
Definition
Type B in blood
Term
IAIB
Definition
Type AB in blood
Term
ii
Definition
O
Term
Polymorphism
Definition
This is a large multiple allele series: involves three
different loci and several alleles at each locus.
Term
Polymorphism antigens:
• These antigens are carried
Definition
HLA A, B and C. by most human cells.
Term
Polymorphic antigens
_______at each locus, the relationship
between any two alleles at a given locus is always
______
Definition
20-100 alleles, codominance
Term
Polymorphism, HLA antigens create...
Definition
a powerful source of variation in human populations.
Term
Sources of new alleles.
Definition
Chance alterations arise spontaneously.
• Gamete producing cells can transmit mutations to
offspring.
Term
Mutations for new alleles. Mutattions make it possible to follow.... Stability of a mutation depends on it's... A mutation may take hold in the population to become a...
Definition
...the pattern of
transmission.
... functional
consequences.
...polymorphism.
Term
An allele frequency greater than 1% is a ________;
less than 1% is a_______
Definition
polymorphism, mutation
Term
Each individual carries ....
• The number of copies of alleles in a population

• The percentage of a given allele in the population....
Definition
...two copies of a gene.

... = 2 x #of individuals in population.

... is its allele frequency.
Term
Sometimes several alleles exist...
example: agouti gene in mouse.
– A= brown (agouti)
– a= black
– at= black with yellow belly.
• Both a and at are prone to predator attacks...
Definition
... but most are mutant:

..., hence
frequency never gets to greater than 1%.
Term
The phenomenon of a single gene determining
multiple distinct traits is known as
Definition
pleotropy.
Term
Pleotrophy examples
Definition
One gene may contribute towards several visible
characteristics.
• E.g: coat color in mice
• In addition to coat color, a specific allele at this
locus also causes lethality.
Term
Pleotropy may be the result of ...
• Example:
Definition
a single gene
product (protein)giving rise to multiple functional
characteristics.

Sickle cell syndrome
Term
Lethality can be....
Examples of latter
Definition
Prenatal or Postnatal...
– Tay-Sachs Disease: paralysis, deteriorating
nervous system, mental retardation etc.
– Deficiency in enzyme Hexosaminidase A
– Prevalent in Eastern European Jews
– Death of infants before they reach ~3 years of
age.
Term
Vast majority of traits are determined by multiple
factors:___________
• Gene interactions between ...
• Example:
Definition
-Genetic as well as environmental
-two or more genes
-Lentil Seed color
Term
Multifactorial Inheritance
F1 all same,
F2: __________
• F2 phenotypic ratio is ______
same as in Mendel’s original crosses).
• Difference: in original crosses, two independent
traits; here:
Definition
All different phenotypes
9:3:3:1
multiple phenotypes of single trait
Term
Dominance relationship for Multifactoral Inheritance
Definition
Tan is dominant to green
– Gray is dominant to green
– Brown is dominant to gray, green and tan.
– Tan and Gray are incompletely dominant,
giving rise to brown.
Term
Genotypic classes for Multifactorial traits
Definition
Genotypic classes:
– Brown: A_B_
– Tan: A_bb
– Gray: aaB_
– Green: aabb
Term
Each genotypic class may not always
dictate a
• Two or more genotypic classes may display an...
• Example:
Definition
-unique phenotype
-identical phenotype.
-Two lines of pure breeding white flowered pea plants falling into different genotypic classes:
AAbb & aaBB
Term
Complimentary Gene action
Biochemical basis: two genes work in tandem to _____
• A dominant allele of both _____
• Now the phenotypic ratio is altered from 9:3:3:1 to_____
Definition
-produce color.
-essential to produce color
- 9:7. (can also be 15:1)
Term
Complementary Gene Action in Humans
• Example _____
• At least one ______ each of _____ is required for hearing.
• Here, we see a situation where only two
genes are considered.
• Two deaf parents can give rise to a
_______
Definition
-deafness.
-dominant allele, fifty
different genes
-normally hearing offspring.
Term
Epistasis
• One gene’s allele masks the phenotype of the
• Four genotypic classes produce....
Definition
- other gene’s alleles.
- fewer than four
phenotypes.
Term
Recessive epistasis:
Definition
when the recessive allele of
one gene masks the effects of either allele of the
second gene.
Term
Dominant epistasis:
Definition
when the dominant allele of
one gene masks the effects of either allele of the
second gene.
Term
Recessive epistasis
Example 1:
• Example 2:
• Phenotypic ratios are .
Definition
-Coat color of Labrador retriever
-ABO blood groups: Bombay
phenotype.
9:3:4 in F2
Term
Dominant Epistasis
• caused by the dominant allele
• Example...
Definition
...of one gene,
masking the action of either allele of the
other gene.
-Summer Squash and Feather color of chicken
Term
penetrance.
Definition
: Genotype does not necessarily define
phenotype. The proportion of individuals with a given
genotype express the phenotype
Term
... all individuals show phenotype. ....half the individuals show phenotype.

• Example:
Definition
100% penetrance...50%
penetrance.

retinoblastoma: only 75% individuals affected.
Term
• Expressivity:
• Retinoblastoma:
Definition
the degree or intensity with which a
particular genotype is expressed in a phenotype in a given
individual.

some have both eyes affected, some only
one
Term
Modifier Genes:
Example
Definition
they have a subtle, secondary effect
which alters the phenotypes produced by the primary
genes.

• E.G. Tail length in mice. The mutant allele t causes a
shortening of the tail. Not all short tails are of the same
length: another gene affects the actual length. (Variable
expressivity).
Term
Modifying environment:
Definition
The environment may influence
the effect of a genotype on the phenotype.
• E.G.: Siamese cats: temperature dependent color of coat.
Color shows up only in extremities, where the temp is
lower (enzyme for pigment formation is active only at
lower temp.)
Term
Continuous Traits
• Variation of the same trait...
• Multiple genes affect a single trait...
• Example: Height: _____adds 6 inches to a base. a...
____adds 3 inches to a base. b
height of 5 ft. Allele a adds nothing. Allele B adds
3 inches. Allele b adds nothing
Definition
...different intensities of
skin color; different gradations in height etc.
...phenotype
depends on how many dominant alleles of each trait
one has.
-A...adds nothing
-B...adds nothing
Term
AABB =
• AaBb =
• Aa BB =
• AAbb =
Definition
6.5 ft
5 ft, 9 inches
6 ft.
6 ft.
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