Extensions to

Mendel
Complexities in
relating
genotype to
phenotype

Outline of extensions to
Mendels analysis

Single-gene inheritance

In which pairs of alleles show deviations from

complete dominance and recessiveness
In which different forms of the gene are not
limited to two alleles
Where one gene may determine more than one
trait

Multifactorial inheritance in which the

phenotype arises from the interaction of
one or more genes with the environment,
chance, and each other

Dominance is not always

complete

Crosses between true-breeding

strains can produce hybrids with
phenotypes different from both
parents

Incomplete dominance
F1 hybrids that differ from both parents
express an intermediate phenotype.
Neither allele is dominant or recessive to
the other
Phenotypic ratios are same as genotypic
ratios

Codominance

F1hybrids express phenotype of both

Summary of dominance
relationships

Fig. 3.2

Incomplete dominance in
snapdragons

Fig. 3.3

Codominant lentil coat

patterns

Fig. 3.4a

Codominant blood group

alleles

Fig. 3.4b

Do variations on dominance
relations negate Mendels
law of segregation?

Dominance relations affect phenotype and

have no bearing on the segregation of
alleles
Alleles still segregate randomly
Gene products control expression of
phenotypes differently
Mendels law of segregation still applies
Interpretation of phenotype/genotype
relation is more complex

Human blood type is an

example one trait that is
determined by multiple
alleles

no

Biochemical basis of ABO

blood group

Individual crosses between purebreeding lines for a trait controlled by

multiple alleles can be used to establish
a dominance relationship

How do multiple alleles arise?

Mutation

Pleiotropy: a single gene

influencing
more than one characteristic

Sickle-cell anemia as a
comprehensive
example
Different
Multiple alleles

Recessive lethality

Pleiotropy

Fig. 3.10

dominance
relationships

The interaction of two genes

to effect one trait

Fig. 3.11

Epistasis: effects of a gene mask the effects

of another

The homozygous recessive bb will

cause the color gene A to be blocked Homozygous dom gives different color than
heterozygous dom
Dominant: Color1(enzyme A)Color YellowEnzyme (E_) BrownEnzyme (B_)
2(enzyme B) Purple
black
Recessive: Color 1(NO enzyme A) YellNo enzyme (ee)yellow nothing for
enzyme to act on yellow
Color 1(enzyme B cant act)
YellowEnzyme (E_) brown no enzyme
colorless
(bb) brown

The Bombay phenotype another

example of recessive epistasis
How can two parents of blood
type O
Have a child that is blood type
A?
Parents genotype: ii H_ x IA_ hh
Substance H for sugars to
bind to
With hh there is no substance
h(substrate) for the sugars
from A or B types to bind to

Fig. 3.14

Biochemical basis of ABO

blood group

12:3:1 or 13:3 ratio typify

dominant epistasis

Fig. 3.15

Heterogenious traits: many genes

give rise to a phenotype

Fig. 3.16

Genetic cross can be used to determine the

mechanism of inheritance for a trait

df

Summary of multifactorial traits

Genes can interact to yield novel

phenotypes
Gene interactions can display epistasis,
where an allele of a gene can mask the
effects of another gene
One trait can be influenced by many
different genes

The same genotype does not

always yield the same
phenotype

Penetrance: the percentage of a population with a

particular genotype that show the expected phenotype.
Dominant inheritance
V-2 incomplete penetrance

Expressivity: degree with which a genotype is expressed in

a phenotype. Phenotype shows more than another
individual with the same genotype

Environment can affect

phenotypic expression of a
genotypeEnzyme is temperature
sensitive and is
functional at extremities

Continuous traits vary within a

population over a range
There are multiple genes(more
than 3) that affect the resulting
phenotype
Causes broad variation (EX:
height, skin color)
Each gene that contributes to a
continuous or quantitative trait
are referred to as quantitative
trail loci or QTLs

Mendelian explanation of
continuous variation

Fig. 3.22

Cross

Rati
o
3:1

Heterozygo
us (Aa x Aa)

Type
Normal Heterozygous cross

Incomplete Dominance: heterozygote

resembles neither homozygote (blending)
1:2:1
Codominance: both parental phenotypes
expressed
2:1

Lethality: homozygosity for either dominant or

recessive causes death

9:3:3 Normal dihybrid cross

:1
9:7
Dihybrid
(AaBb x
AaBb)

9:3:4

Complementary: recessiveness for either of

the two genes disrupts enzyme path and
prevents expression
Recessive epistasis: homozygous recessive of
one gene masks both alleles of another gene

Dominant epistasis I: dominant allele of one

12:3: gene hides effects of both alleles of another
1
gene. Dominance on one gene prevents
expression of other gene.