A.

Definitions of Keywords
B. Mendels Law of Inheritance: Law of Segregation; Law
of Independent Assortment
Offspring phenotypic
C. Mendelian Genetics
ratio can be predicted
1. Monohybrid Inheritance
following Mendels
2. Dihybrid Inheritance
Laws
D. Non-Mendelian Genetics
1. Codominance and Incomplete dominance
2. Multiple alleles
Offspring phenotypic
3. Sex Linkage
ratio deviates from
expected Mendelian
4. Epistasis
ratios
5. Autosomal Linkage
6. Polygenic inheritance

p3

Mendels
Laws
Mendel's observations from these
experiments can be summarized in two
Laws:
1. the Law of Segregation

(alleles of a single gene)

2. the Law of Independent Assortment

(genes on different chromosomes)

1. Monohybrid
Inheritance

p5

3: 1

appears between two

heterozygous parents
Tt x Tt

1:1 appears between a heterozygous

parent and a homozygous
recessive parent (test cross)
Tt x tt

2. Dihybrid
Inheritance
Inheritance of two genes
Two genes on different chromosomes
Gene for two traits eg. Seed Colour
and shape
Gene
for
Seed
colour

Gene
for
Seed
shape

2. Dihybrid Inheritance
Example:
Gene 1 - seed colour : yellow vs green
Gene 2 seed shape: round vs wrinkled

Parents are Pure bred/ true breeding

p6

Double
heterozygote

LawofIndependentAssortment
resulting in the various possible
combination of alleles (from the 2
genes).
Totalpossiblecombinationof
gametes=2nwherenisthehaploid
number.

Pure bred line

Parents
Phenotype

Round,Yellow

Genotype

RRYY

Gametes

Pure bred line

R
Y

R
Y

R
Y

Wrinkled, Green,
rryy

R
Y

ry

ry

ry

ry

F1
generation
Phenotype

All smooth, yellow

RrYy

Double
heterozygote

F1
generation
Phenotype

Gametes

F2
generation

Self the F1
smooth, yellow

smooth, yellow

RrYy

RrYy

RrRr
YYyy

RrRr
YYyy

LawofIndependentAssortment

Different combinations
of alleles in the gametes

LawofIndependentAssortment

During gamete formation, segregation of the alleles of one allelic pair

is independent of the segregation of the alleles of another allelic pair.

Different combinations
of alleles in the gametes

p6

Double
heterozygote

LawofIndependentAssortment
resulting in the various possible
combination of alleles (from the 2
genes).
Totalpossiblecombinationof
gametes=2nwherenisthehaploid
number.

F2 offspring:
9 Yellow, round:
3 Yellow wrinkled :
3 Green, round :
1 Green, wrinkled

Both dominant charac

1 dominant charac; 1
recessive
1 recessive charac; 1
dominant
Both recessive charac

p6

Dihybrid test cross

Purposedeterminegenotypeof
individualswithdominantcharacteristics
Try writing out the genotypes for the various
phenotypes.

Phenotypes

Round
yellow

Round
green

Wrinkled
yellow

Possible
genotypes

RRYY

RRyy

rrYY

RRYy

Rryy

rrYy

RrYY
RrYy

2. Dihybrid
Inheritance

9:3:3: 1 cross between two

double heterozygous parents
AaBb x AaBb

1:1:1:1 appears between a double

heterozygous parent and a
double homozygous recessive
parent (test cross)
AaBb x aabb

p7
Situations not covered by Mendel's Laws
(defies Mendelian ratios):
1. Not all organisms are diploid.
2. Gene may have more than 2 alleles/ multiple alleles
(Eg: ABO Blood group has 3 alleles)
3. Not always a dominant-recessive relationship
(Eg. codominance)
4. Alleles may not assort independently
(Eg. Linked genes)

Inheritance of genes
and alleles still occur
as per normal .

Difference is ..
cannot get
Mendels

p8

(1)Codominance&IncompleteDominance
The phenomenon in a heterozygote in which both
alleles of the pair under consideration are
expressed in the phenotype.
Incomplete
Dominance

Phenotypeofheterozygote
(different from either parent)

CoDominance

Red flower
x
White
flower
Intermediatetrait
between homozygous dominant
and homozygous recessive

Q: Why is this nonMendelian?

Characteristicsof
boththealleles

Incomplete dominance
R:alleleforred
colourflower
W:alleleforwhite
colourflower
Parental Genotype

F1 Genotype

F2 Genotype

RR

RRWW

Q: How are
the offspring
different
from the one
showing
codominanc
e?

RWRW

RWRWWW

p9

(2)MultipleAlleles
Definition
- where a character is controlled by a gene
which may appear in 3 or more alleles of which
only 2 may occupy the same locus on a pair of
homologous chromosomes.
Example: 1 gene with 3 alleles A1, A2 and A3

A1

A2

A1

A3

A2

A3

A2

A2

p9

Dominance Series

(Colour variation in rabbits)

Most dominant

ch

Cambridge Modular Series

recessive

3. Sex-Linked
Inheritance2 types of

p10

chromosomes
Sex chromosomes
Autosomes = all
other chromosomes

Phenotype - Male
Genotype - XY
Phenotype Female
Genotype - XX

Where do males get their

X chromosomes from?

Sex-linked inheritance

p11

How to represent sex-linked genes?

Whats a carrier?
Individual who has the
mutated/disease causing allele but
not expressing it in the phenotype.

Hh

H
X
Y

XX

Need to distinguish between males and females

H

XY

XY

HH

XX

Hh

XX

p12
Sex Linkage in Man - Red-green colour blindness

Generalisation1:
Sex- linked
recessive traits are
more common in
men than women.
Reason:
No corresponding allele on Y
chromosome to mask the effect on
the X chromosome;
therefore a male will manifest the
trait even if only 1 recessive allele is
present.
(NB: differential segment or non-pairing segment)
Advanced Biology - Simpkins

Example 3: Colourblind female, Normal male

Parents

phenotype
genotype

Generalisation 2:
Sons receive sexGametes
linked trait
from
the
C
X
Y
mother.
F1
genotype
Reason:
phenotype
Son
receive their X
chromosome from
their mother.
NOTE: A mother to
son inheritance.

CB female

Normal male

XcXcXCY
meiosis

Xc
XCXc
Normal
Carrier
female

Xc
XcY
Colourblind
Male

Let C= allele for normal vision and c = allele for colour blindness and C is
dominant over c

Generalisation3:
Example 1: Normal female, colourblind male
Sons do not inherit father's sex-linked trait.
Let C= allele for normal vision and c = allele for colour
Reason:
blindness
is dominant
over c (with sex-linked trait)
Father
passand
theirConly
X chromosome
to their daughters and Y chromosome to their sons.
Parents phenotype Normal female x CB male
MalesobtaintheirXchromosomesfromtheirmother.
genotype

F1

Daughter
Gametes
receives
c
X
Y X
fathers only
genotype
chromosome

meiosi
s
C

X C XcXCY
Female
normal vision
(carrier)

phenotype
When
will
sons
inherit
their
fathers
condition?

XcY

X C XC

Ratio:

1
1

Male receives
Son
normal
his
only X
vision
chromosome
from his :
mother

Pedigree Analysis

Pedigree
A family tree/
pedigree
shows the various
relationships
within a family.
Can be used to study
the
inheritance of trait.

p13
Different modes of inheritance

1) Autosomal dominant
2) Autosomal recessive
3) Sex-linked dominant
4) Sex-linked recessive

What is the mode of

inheritance?

p13

For Drosophila, Reciprocal

Crosses yield different
results

F1andF2resultsdifferentfor
reciprocalcrosses

NEW!
Not in
the
notes

Advanced Biology: Principles and Applications

ReciprocalcrossofwhiteandredeyedDrosophila
R=allele for red eye r = allele for white eye

Need to
distinguish
between
males and
females

What if they are not sex-linked (i.e.

the genes are found on the
autosomes)?
female,redXmale,white
eyedeyed

RR

F1

rr

All Rr
(all red-eyed)

female,whiteXmale,white
eyedeyed

RR

rr

All Rr
(all red-eyed)

NO difference in ratio after reciprocal

cross
means R and r are not sex-linked

NEW!

Sex-linkedCodominant
Let B = allele for black fur and
G = allele for ginger fur
where B & G are codominant and XBXG = tortoise-shell
a) How many classes of coat colour would you find in the
females? In males? (b) Why?
ThreeXBXB(black)XGXG(ginger)XBXG(tortoise-

shell)
TwoXBY(black)XGY(ginger)

Sex-linkedCodominant
c) Is it possible to find a tortoise-shell male? Why?
Tobetortoise-shell,requiresbothalleles(BandG)to
bepresent.Maleshaveonly1Xchromosome,socan
onlyhave1alleleatanyonetime.
But.IfcatisXBXGY???

X inactivation

Correct representation for alleles

Barr bodies are interpreted as inactivated X chromosomes in mammalian females. Since

females have two X chromosomes, the Lyon hypothesis suggests that one or the other X is
inactivated in each somatic (non-reproductive) cell during embryonic development. Cells
mitotically produced from these embryonic cells likewise have the same inactivated X
chromosome.

www.emc.maricopa.edu/.../BioBookgeninteract.h

http://www.bio.miami.edu/dana/dox/calico.html

NB: Incorrect representation for alleles becos allels are codominant.

Tortoiseshell cat

Calico cat

4. Epistasis

p14

Occurs when 2 or more

genes interact to influence
the outcome of a single trait.
OnegeneMaskingthe
expressionoftheother
Epistatic gene the gene
that mask the other

Hypostatic gene the gene

that is being masked.

(i) Recessive Epistasis

Gene 1:
Controls the color of the
pigment
B/b locus:
B = black pigment,
b = brown pigment
Gene 2:
Controls the expression
of B/b locus gene

Coat colour in Labradors

E/e locus:
locus
E = allows the deposition
of pigment,
e = prevents deposition
of pigment

(i) Recessive Epistasis

p14

Why
recessive
epistasis?

(ii) Dominant Epistasis

p14

Presenceofadominantalleleatonelocuseg.
A
Presenceofadominantalleleatonelocus
allele will inhibit the expression of alleles at the B
locus.

Think
Time

Using the typical 9:3:3:1 ratio, which classes will

show the same phenotype? What will be the
observed ratio?

9 A_B_ : 3A_bb : 3 aaB_ : 1 aabb

So, individuals with A_B_ and A_bb have
the same phenotype.
Phenotypic F2 ratio: 12:3:1

Squash fruit color is controlled by two genes.

1)Gene 1 is represented by a W/w:
W = allele that inhibits the expression of gene 2
w = allele that allows the expression of gene 2
2)Gene 2 is represented by a Y/y:
Y = allele that results in the expression of yellow
colour,
y = allele that results in the expression of green
colour

12 White: 3 yellow: 1 green

p15

(iii) Duplicate genes

2genes
codefor
thesame Compound
product.
A
(white)

GeneP
EnzymeP
EnzymeQ

Compound
B
(purple)

GeneQ
As long as any one of the enzyme is functioning, phenotype is purple

Think
Time

Using the typical 9:3:3:1 ratio, which

classes will show the same phenotype?
What will be the observed ratio?

9 P_Q_ : 3P_qq : 3 ppQ_ : 1 ppqq

(iii) Duplicate genes

(iv)Complementarygeneaction
gene P
C om pound A
(w h ite )

enzym e P

p16

gene Q
C om pound B
(w h ite )

enzym e Q

C om pound C
(p u rp le )

As long as any 1 enzyme is not functioning, phenotype is white i.e.

both enzymes have to be functioning to get purple .

Think
Time

Using the typical 9:3:3:1 ratio,

which classes will show the same
phenotype? What will be the
observed ratio?

9 P_Q_ : 3P_qq : 3 ppQ_ : 1 ppqq

Is this 9an
example
of
gene
Walnut:
3 Rose: 3
Pea:
1 Single
interaction?

What is the expected phenotypic ratio of

a cross between 2 double heterozygote?

5. Autosomal
Linkage
Inheritance of 2 genes found
on the same chromosome.

p17

Only 2typesofgametesformed if
nocrossingoveroccurs

p17

Highe
Parentaltypegametes r in
no.

4typesof
gametesformed

Recombinant
gametes

Lowe
r in
no.

Double
heterozygote

Whatistheexpectedtestcrossratioforadihybrid
inheritance?
1Gray body, normal wings: 1 Gray body, vestigial wings:
1 Black body, normal wings: 1 Black body, vestigial wings

No.!

Expected

1 Gray body, normal wings: 1 Gray body, vestigial wings:

1 Black body, normal wings: 1 Black body, vestigial wings

No.!

p 19

RightwayofdenotingLinkedgenes
Parental phenotype
red round
Parental genotype

Gametes

F1 genotype

F1 phenotype

long

Pure bred purple long X Pure bred

F
L
All

F
L

f
l

f
l

meiosis

F
L

All

F
L

f
l

f
l
All purple

F1 X F1

F
L

F
L

Gamet
es

F
L

f
l

F
L

F
L

f
l

F
L

F
L

f
l

f
l

F
L

f
l

f
l

f
l

l
Totallinkage 3 Purple, Long
i.e.nocrossing
over

: 1 Red, Round

What does this ratio remind you

F1 X F1

Gamet
es

F
L

F
L

f
l

Recombinan
ts

F
l

F
L

f
L

f
l

f
l

Parental gametes
Recombinants are a
result of crossing over.
Solve by Punnet Square

F
L

F
l

f
L

f
l

Summary SO far

Dihybrid Inheritance
2genes;2characteristics

2pairsof
homologous
chromosome

1pairof
homologous
chromosome

Independent
assortment

NOIndependent
assortment;
Geneslinked

9:3:3:1
1:1:1:1

Nofixratio;
Moreparental
types;less
recombinants

2genes;1characteristic

2pairsof
homologous
chromosome

Independent
assortment

Gene
Interaction,
new
phenotype

Epistasis
Eg.15:1;
9:3:4;
9:7

6. Polygenic
Inheritance

Occurs when many genes

control the expression of a
single trait.

p21

Additiveeffects of all these genes:

eachallelehasaspecificvaluethatitcontributesto
thefinalphenotype

Eg. 5 genes involved in height

A/a B/b C/c D/d E/e
A, B, C, D, E each contribute 2 cm to height
a, b, c, d, e contribute 1 cm each
So AaBbCcDdEe = 2+1+2+1+2+1+2+1+2+1
= 15
A1A2B1B2C1C2D1D2E1E2

Additiveeffects of all these genes:

each allele has a specific value that it contributes to the final phenotype.

Genotype RatioinF2

AABB
AABb
AAbb
AaBB
AaBb
Aabb
aaBB
aaBb
aabb

1
2
1
2
4
2
1
2
1

Metric
value

12
11
10
10
9
8
8
7
6

Environment can change the phenotypic

value for a particular genotype.

The continuously varying nature of

height.

Shortes
t

Tallest

1920

1997

A. Definitions of Keywords
B. Mendels Law of Inheritance: Law of Segregation; Law
of Independent Assortment
C. Mendelian Genetics
1. Monohybrid Inheritance
2. Dihybrid Inheritance
D. Non-Mendelian Genetics
1. Codominance and Incomplete dominance
2. Multiple alleles
3. Sex Linkage
4. Epistasis
5. Autosomal Linkage
6. Polygenic inheritance

Hardy Weinberg
Equilibrium
Based on a principle that:

NEW!
Not in
the
notes

the frequency of dominant and recessive

alleles in a population will remain constant
from generation to generation provided
some conditions are exist..
Conditions that must be fulfilled:
1. the population is large
2. mating is random
3. no mutations occurs
4. all genotypes are equally fertile
5. generations do not overlap
6. there is no migration in or out of the population

Hardy Weinberg
Equilibrium
Shows the relationship between
frequencies of alleles and genotypes
in a population. (Population Genetics)
Relationship can be represented by a
mathematical formula:
(p + q) =1
where p= frequency of the dominant allele
q= frequency of the recessive allele

NEW!

Hardy Weinberg
Equilibrium
To get the genotypic frequencies:
(p + q)2 =1
p2 + 2pq +q2 =1
Genotypic
frequencies of AA
(homozygous
dominant)

Genotypic
frequencies
of Aa
(heterozygote
s)

Genotypic
frequencies of aa
(homozygous
recessive)

Example: Albinism
A = Allele that codes for normal pigmentation
a = allele that codes for no pigmentation

p = allele freq for A

q = allele freq for a

NEW!

Example: Albinism
A = Allele that codes for normal pigmentation
a = allele that codes for no pigmentation

Applying Hardy-Weinberg equation

Example: In a population, 1 person in 10 000 is an albino.
Since albino condition is a recessive condition, then the
genotypic frequency for albinism is 1/1000
q2 = 1/1000 = 0.001
q = 0.01
Since (p+q)=1; then p = 1-0.01 = 0.99 (= frequency of the
dominant allele)
Hence frequency of the
- homozygous dominant genotype = p2 = (0.99) 2 = 0.9801
- heterozygous dominant genotype = 2pq = 2(0.99)(0.01) =
0.0198