Gene$cs II

P Generation

Appearance: Purple flowers White flowers

Genetic makeup:

Gametes:
PP

P p
pp
PP X pp
P Generation

Appearance: Purple flowers White flowers

Genetic makeup:

Gametes:
PP

P
pp

p
PP X pp

F1 Generation

Appearance:
Genetic makeup:
Purple flowers
Pp
Pp
Gametes: 1/
2 P 1/
2 p
 Mendel’s Second Law
• Law of Independent Assortment
– The inheritance pattern of one trait will not
affect the inheritance pattern of another
e.g. no relation between a cat's color and tail
length.
– This is actually only true for genes that are not
linked to each other.
 Some examples
• If the gene for colour of pea pods has 2
alleles (green and yellow) what are the
possible genotypic and phenotypic
combinations?
 ANSWER
• 1 gene: colour of pea pods
• 2 alleles: green and yellow
• Gametes: G and Y
• Phenotype: colour of the pods, either
green or yellow
• Genotype: GG, YY or GY
HOMOZYGOUS: two identical alleles for a particular trait.
HETEROZYGOUS: two different alleles for a particular trait.
What happens when:
a) Green X green: Green pods
b) Green X yellow: Green pods
• From Mendel’s experiments we know green is dominant over
yellow.

NOMENCLATURE
1 gene = 1 letter
Dominant allele = upper case e.g. G (green allele) or + (wild type).
Recessive allele = lower case e.g. g (yellow allele) or – (mutant).

Phenotype Genotype
Green GG
Gg
Yellow gg
 Possible Crosses
• GG x GG (green x green)
• GG x Gg (green x green)
• GG x gg (green x yellow)
• Gg x Gg (green x green)
• Gg x gg (green x yellow)
• gg x gg (yellow x yellow)

• 6 different genotypic possibilities

• 3 different phenotypic possibilities.
 Investigating and predicting gene
inheritance
• Example 1
CROSS: Gg x gg (green x yellow)
GAMETES: G g and g
F1:
G g
g Gg gg
g Gg gg

PHENOTYPIC RATIO: 2 green pods : 2 yellow pods = 1:1

GENOTYPIC RATIO: 2 Gg : 2 gg = 1:1
 Investigating and predicting gene
inheritance
• Example 2
CROSS: Gg x Gg (green x green)
GAMETES: G g and G g
F1:
G g
G GG Gg
g Gg gg

PHENOTYPIC RATIO: 3 green pods : 1 yellow pods = 3:1

GENOTYPIC RATIO: 1 GG : 2 Gg : 1 gg = 1:2:1
 Pedigree Analysis
female male female male

Trait of interest is shaded e.g. cleft chin.

cc Cc

Cc cc cc cc

Study of human genetics is difficult – long time intervals between generations

small families
impossibility of experimental matings!
 Revisiting Mendel

• Physical characters are the result of the interac$on of

discrete/isolated par$cles (GENES) and both parents provide
par$cles which make up characteris$cs of the offspring.

• Offspring inherit characteris$cs of one or other parent

depending on rules of inheritance.
 Applying Mendel’s Laws

A.The Test Cross

B. Monohybrid inheritance
C.Incomplete dominance
D.Co-dominance
E.Lethal alleles
F. Dihybrid inheritance
G.Sex-linkage
H.Multiple alleles
 Test Cross
• Powerful form of experimentation
developed by Mendel to test his ideas.
– Applied in agriculture, husbandry etc.

• Cross of an individual of known phenotype

but unknown genotype with a homozygous
recessive individual.
 PROBLEM

In peas, green colour of pods is dominant over

yellow. In your vegetable garden you have a
plant that produces green pods. How can you
find out if it is homozygous or heterozygous for
that gene?
• G = green, g = yellow
• Plant is either GG or Gg – do test cross with gg
plant.

Case 1: Plant is homozygous Case 2: Plant is heterozygous

CROSS: GG x gg CROSS: Gg x gg
GAMETES: G G and g g GAMETES: G g and g g
F1: F1:
G G G g
g Gg Gg g Gg gg
g Gg Gg g Gg gg
100% green pods 50% green pods
50% yellow pods
 Types of Alleles
• Not all alleles are fully dominant or
recessive in the heterozygous condition.
• Incomplete dominant alleles: the
phenotype of the heterozygote is
intermediate between the two
homozygotes.
– e.g. plant that has one gene for flower colour
and produces white, red and pink flowers.
 Incomplete dominance
• Nomenclature – incomplete dominant
alleles are represented by lower case
letters with numerical subscripts, e.g. a1
and a2.
PROBLEM
Geranium plants can be tall, short or of medium height. Height is controlled
by one gene (2 alleles, t1 and t2). What are the genotypic and phenotypic
ratios of the progeny from a cross between two heterozygous individuals?
 ANSWER
Alleles: t1 = tall, t2 = short, t1t2 = medium
CROSS: t1t2 x t1t2
GAMETES: t1, t2 and t1, t2
F1:
t1 t2
t1 t1t1 t1t2
t2 t1t2 t2t2
PHENOTYPIC RATIO: 1 tall : 2 medium : 1 short
GENOTYPIC RATIO: 1 t1t1 : 2 t1t2 : 1 t2t2
0.25 : 0.5 : 0.25
 Codominant alleles
• The phenotype of the heterozygote is a
mixture/representative of those of the two
homozygotes.
– e.g. A-B-O blood group in humans.
• Nomenclature: Codominant alleles are
represented by upper case letters with
uppercase superscripts e.g. IA and IB.
 Lethal Alleles
• Alleles that when expressed, kill the
individual.
• Can be dominant, recessive, incomplete
dominant etc.
PROBLEM
In maize allele C is responsible for the production of chlorophyll. Allele c
does not produce chlorophyll, so when expressed, allele c causes the plants
to die because they cannot produce chlorophyll. Cross 2 individuals
heterozygous for this gene, and determine the genotypic and phenotypic
ratios of the progeny.
 ANSWER
ALLELES: C = chlorophyll, c = no chlorophyll
CROSS: Cc x Cc
GAMETES: C, c and C, c
F1:
C c
C CC Cc
c Cc cc
PHENOTYPIC RATIO: 3 chlorophyll : 1 no chlorophyll, BUT plants with no
chlorophyll will die so 100% chlorophyll.
GENOTYPIC RATIO: 1 CC : 2 Cc : 1 cc, BUT……1 : 2 : 0
 Dihybrid Inheritance
• Inheritance of two genes (each one with
two alleles) located on separate pairs of
homologous chromosomes.
PROBLEM
Consider 2 of the human facial characteristics: cleft/smooth chin (1 gene, 2 alleles)
and unattached/attached ear lobes (1 gene, 2 alleles). Each gene is under
dominant/recessive control. The two genes are located on separate pairs of
homologous chromosomes.
1. Write the 2 genes in the correct nomenclature.
2. What is the genotype of a heterozygous individual?
3. Show diagrammatically the position of these genes on the chromosomes.
4. If the above cell was to divide by meiosis, what would be the meiotic products
(gametes)?
 ANSWER
1. C = cleft, c = smooth / U = unattached, u = attached
2. Cc / Uu
3. e.g. CcUu

C c

U u

4. CU, Cu, cU, cu

 PROBLEM:
Cross CcUu x CcUu and determine the
frequency of the gametes produced by
each parent and the genotypic and
phenotypic ratios of the 1st progeny (F1).
Write your name and student number and the solu$on on a piece of paper.
(10 minutes)
Person marking, be strict as possible.

ANSWER
CROSS: CcUu x CcUu
GAMETES: CU, Cu, cU, cu and CU, Cu cU, cu
F1: CU Cu cU cu
CU CCUU CCUu CcUU CcUu
Cu CCUu CCuu CcUu Ccuu
cU CcUU CcUu ccUU ccUu
cu CcUu Ccuu ccUu ccuu

GENOTYPIC RATIO: 1 CCUU : 2 CCUu : 2 CcUU : 4 CcUu : 1 CCuu :

2 Ccuu : 1 ccUU : 2 ccUu : 1 ccuu
PHENOTYPIC RATIO: 9 cleft, unattached : 3 smooth, unattached : 3
cleft, attached : 1 smooth, attached
 Law of Multiplicative Probabilities
• The probability of two independent events
occurring together is the product of their
individual probabilities.
– e.g. probability of throwing a die and getting a 5 at
the top is 1/6 and the probability of throwing 2 dice
simultaneously and obtaining 5 on top of each is
1/6 x 1/6 = 1/36.
• Mendel’s law of independent assortment.
– Genes located on different pairs of homologous
chromosomes are inherited independently from each
other.
• So...
Back to previous problem….

Since the probability of genotype Cc producing a c gamete is 0.5 and the

probability of genotype Uu producing a u gamete is 0.5…
then the probability of genotype CcUu producing a cu gamete is 0.5 x 0.5 = 0.25

1. Monohybrid e.g. Cc: No. and type of gametes = 2 (C or c)

No. and type of genotypes = 3 (CC, Cc or cc)
No. and type of phenotypes = 2 (Cleft or smooth)
2. Dihybrid e.g. CcUu: No. and type of gametes = 4 (CU, Cu, cU and cu)
No. and type of genotypes = 9 (CCUU, CCUu, CcUU,
CcUu, CCuu, Ccuu, ccUU, ccUu, ccuu)
No. and type of phenotypes = 4 (Cleft and attached, cleft
and unattached, smooth and attached, smooth and
unattached)
No. pairs of No. gametes No. No. No. possible
alleles phenotypes genotypes gamete
combinations
n 2n 2n 3n 4n

1 2 2 3 4

2 4 4 9 16

3 8 8 27 64

4 16 16 81 256
 Examples

Genotype No. of gametes

AaBbCc 23 = 8
AaBbCcDd 24 = 16
aaBbCC 21 = 2
AaBbccdd 22 = 4

N.B. Only consider the heterozygous condition!

 PROBLEM
Determine the proportion of homozygous recessives (aa, bb, cc, dd, ee) in
the progeny of the cross AabbCcDdEe x AaBbCcddEe.

CROSS: Aa x Aa bb x Bb Cc x Cc Dd x dd Ee x Ee
½ bb ¼ bb ½ dd ¼ ee
A a
A AA Aa
a Aa aa
¼ aa
So, proportion of homozygous recessives = ¼ x ½ x ¼ x ½ x ¼
= 1/256