4.

1: Mendalian genetic;
monohybrid & dihybrid
Inheritance : the genetic transmission of
characteristics from parent
of offspring.
Genes : Unit of information about
specific traits & they are passed
from parents to offspring/ Small
section of DNA that codes for a
particular protein. Each gene has a
specific location (locus) on a
chromosome.
Allele
Alternative forms of a genetic locus.
A single allele for each locus is inherited
separately from each parent (e.g. at a
locus for eye colour the allele might result
in blue or brown eyes.
3
Locus : The position on a
(plural : loci) chromosome of a gene or
other chromosome marker.

Segregation- the separation of paired
alleles or homologous chromosomes,
especially during meiosis, so that the
members of each pair appear in different
gametes.

Back cross : A crossing of a heterozygous
organism & one of its
homozygous parents.
Dominant : a gene is said to be dominant
allele if it expresses its phenotype
even in the presence of a
recessive gene.
Gamete : mature male or female
reproduction cell (sperm or
ovum) with a haploid set of
chromosome (23 for human).

Genotype : the genetic constitution of
an organism.
Phenotype : The physical appearance /
observable characteristics
of an organism.
Heterozygote : An organism or cell having
2 different alleles at
corresponding loci on
homologous
chromosomes. (Aa)
Homozygote : An organism whose
genotype is characterized
by two identical alleles of a
gene. (AA or aa).
Recessive : A gene that is expressed
allele only when it is present in 2
copies or if the other copy is
missing.
Self-cross : cross involving plants of the
same generation
Test-cross : The mating of an organism
to a double recessive in
order to determine whether
it is homozygous or
heterozygous for a
character under
consideration.

9
True breeding or pure breeding:
Organisms that are homozygous for
any given genotype & therefore pass it on
to all their progeny in a cross withy a
similar homozygote.

Reciprocal cross
Using male & female gametes for 2
different traits & alternating the source of
the gametes.
MENDELS EXPERIMENTS
Mendel was an Austrian monk who studied
the inheritance of characteristic in garden
peas ( Pisum sativum) which he grew in
the vegetable garden in his monastery.
He choose peas because:
They were easy to grow.
They had a short life cycle.
Their pollination could be controlled.
Theyve easily observable characteristics.
He studied seven characteristics of pea
plants, each of which has 2 contrasting
alternatives.
1. Seed shape : round/wrinkled
2. Seed colour : yellow/green
3. Pod shape : inflated/constricted
4. Pod colour : yellow/green
5. Flower colour : purple/white
6. Flower position : axial/terminal
7. Stem length : tall/short (dwarf)
Mendels First Law/Law of
Segregation
A pair of allelic genes that are present in an
organism for a given character, separate or
segregate from each other during meiosis, so
they end up in a different gamete. This
segregation is just a chance and there is no
choice.
For example when the tall plant which is
heterozygous produces gametes, only one (T) of
the gene pair goes into one gamete and (t) to the
other. In this process whether T gene goes to this
gamete or that gamete is purely a chance process.
However if thousand gametes are produced, 500
of them receive dominant. "T" genes and the rest
(500) receive "t" genes. Thus the segregation is
random, but in equal ratios.

Monohybrid Cross
In monohybrid inheritance, a pair of
contrasting characters was studied.
Mendel used pure breed plant for parental
generation (P).
For e.g. pea plant have one gene for
flower colour. The gene for flower colour
has two alleles : purple colur (P) & white
colour (p). Therefore, there are 3 possible
genotypes:
PP homozygous for P
Pp - heterozygous for the 2 alleles
pp homozygous for p

He crossed all purple flowers with all white
flowers.
This is a parental pure-breeding x pure
breeding.

P purple flower p- white flower
19
Mendels Conclusions on
Monohybrid Cross
The F
2
plants were a mixture of purple &
white flowers in approximate ratio of 3 : 1.
The most striking features of these results
were that:
1. there were no flower of intermediate
colour.
2. there were no white flower in F
1
generation
although they reappeared in the F
2
.

From the first observation, Mendel
concluded that characteristics are not
blended together like different colours of
paint but they are determined by definite,
discrete particles which he called factors.
From the second observation, he
concluded that the factor for white colour
must be carried in the F1 plants, but is
hidden by the factor for purple colour.
The white colour factor is expressed only
in the absence of purple colour factor.
Therefore, each character is controlled by
a pair of factors, one factor coming from
each parent.
As all F1 flowers are purple, the factor for
purple colour must be dominant to the
factor of white colour, which is the
recessive factor.
In modern genetic terms, the inheritance
factor is actually the gene.
Each character is controlled by a pair of
genes.
The different form of a gene are called
alleles.
The hereditary factors (genes) do not mix
& remain as separate particles during their
transmission from the parents to the
offspring.
24
Mendel's observations from these
experiments can be summarized in the
principles below :
Mendels first law: law of segregation -
the two alleles for a heritable character
segregate (separate) during gamete formation
and end up in different gametes.
E.g. Homologous chromosomes line up during
metaphase I of meiosis and then separate
forming haploid cells;
each homologous chromosome had one allele
for the trait and they are now in different gamete
cells.

Pairs of chromosomes separate during
meiosis I, gametes are haploid.
They carry only one copy of each
chromosome.
An Aa individual therefore produces 2
kinds of gametes, i.e. A & a.
Aa
a
A
a A a A
gametes
The inheritance of traits can be explained by
meiosis.

Test cross in monohybrid
A test cross is carried out by mating an
organism to a double recessive in
order to determine whether the
organism is homozygous or
heterozygous for a character under
consideration.
E.g. A pea plant with purple flower may
be either homozygous dominant (PP) or
heterozygous (Pp).
If all the progeny of the testcross have
purple flowers, then the purple flower
parent was probably homozygous
dominant since a PP x pp cross
produces Pp progeny.
If the progeny of the testcross contains
both purple and white phenotypes, then
the purple flower parent was
heterozygous since a Pp x pp cross
produces Pp and pp progeny in a 1:1
ratio.

Mendels Second Law/Law of
Independent Assortment
Mendel also cross peas that different in 2 contrasting
traits.
A dihybrid inheritance is the inheritance of two
characteristics that are controlled by a different genes at
different loci.
The resulting (F2) generation did not have 3:1 dominant :
recessive phenotype ratios.
Instead of 4 possible genotypes from a monohybrid
cross, dihybrid crosses have as many as 16 possible
genotypes.
Dihybrid Cross
33
Crosses With Two Traits
A dihybrid cross is a mating between parents that differ
in two traits.
Mendel performed dihybrid crosses by mating two
individuals which differed in seed color (yellow and
green) and seed shape (round and wrinkled).
Round seeds (R) are dominant over wrinkled (r) seeds.
Yellow seed color (Y) is dominant over green (y).
Plants homozygous for round yellow seeds (RRYY) were
crossed with plants homozygous for wrinkled green
seeds (rryy).
All the F1 progeny were heterozygous for both traits
(RrYy) and had round yellow seeds (the dominant
phenotypes).

34
Mendel allowed self-pollination of F1 plants
(RrYy x RrYy) to produce an F2 generation.
When he categorized peas from the F2
generation he found a ratio of 315:108:101:32
which approximates a 9:3:3:1 phenotypic ratio.
The experimental results supported the
hypothesis that each allele pair segregates
independently during gamete formation.
Mendel tried all seven of his traits in various
combinations in dihybrid crosses and found the
same 9:3:3:1 in each case.
This behavior of genes during gamete formation
is called independent assortment and the
principle is referred to as Mendel's Law of
Independent Assortment.

From the result of this experiment Mendel
construct his second Law : The Law of
Independent Assortment.
During the gamete formation, segregation of the
alleles of one allelic pair is independent of the
segregation of the alleles of another allelic pair
Variation (in the combination of alleles you
inherit) is due to:
1. crossing over (meiosis)
2. independent assortment
(meiosis)
3. random fertilization


A test cross-conducted for the dihybrid inheritance exhibited
a ratio of 1 : 1: 1: 1 of each phenotype.
Mandel confirmed the results of his second law by
performing a testcross:
F1 dihybrid x recessive parent
YyRr x yyrr

The
inheritance of
two traits on
different
chromosomes
can be
explained by
meiosis.
4.2:Crosses that deviate from the
Mendelian Inheritance
In codominance, the heterozygous & the
homozygous individuals have different
phenotypes.
The 2 alleles in the heterozygous
individuals are equally dominant & both
are expressed simultaneously
4.2.1:Codominant Allele
E.g.: 1. The ABO blood system in humans.
- the alleles I
A
& I
B
are codominant.

2. The MN blood group system in
humans.
- this grouping is due to antigen
found on the surface of the RBC.
- In this case there are 2 antigen M & N
- The production is determined by a
gene with 2 alleles:
L
M
provide ability to produce M antigen
L
N
provide ability to produce N antigen
Individual L
M
L
M
only have M antigen on their RBC
Individual L
N
L
N
only have N antigen on their RBC
Individual L
M
L
N
have both antigen M & N on their RBC

P L
M
L
M
x L
N
L
N

G

F1 L
M
L
N
F1 x F1

P L
M
L
N
x L
M
L
N

G


F2
L
M
L
N
L
N
L
M
L
N
L
M
Gametes L
M
L
N
L
M
L
M
L
M
L
M
L
N
L
N
L
M
L
N
L
N
L
N
The genotypic ratio:

1 L
M
L
M
: 2 L
M
L
N
: 1 L
N
L
N

The phenotypic ratio:

1 producing M antigen
2 producing both antigen
1 producing N antigen

This is different from Mendels
Law because there are 3
phenotypes in the ratio 1:2:1
in the F2 generation instead
of 2 phenotypes (3 : 1).
Another example of
codominance, red cows
crossed with white will
generate roan cows.
Roan refers to cows that
have red coats with
white blotches.
When the F1 roan
individuals self-fertilize,
the F2 progeny have a
phenotypic ratio of 1
red:2 roan:1 white.

One allele is not fully dominant over its
partner, so in the heterozygous condition,
the total product is intermediate between
that of the dominant & recessive alleles.
E.g. colour of snapdragon flower (Antirrhinum)
Heterozygotes for colour alleles have pink colours in
contrast to red (dominant homozygotes) & white
(recessive homozygotes).
The phenotype ratio for the monohybrid cross then
becomes 1 : 2 : 1 instead of 3 : 1.
Cross between a red flowered plant & white flowered
plant.
4.2.2: Incomplete Dominant Allele
Genotypic ratio:
1 C
R
C
R
: 2 C
R
C
W
: 1C
W
C
W

Phenotypic ratio:
1 red : 2 pink : 1 white
Epistasis
The masking of the phenotypic effect of
alleles at one gene by alleles of another
gene.
A gene is said to be epistatic when its
presence suppresses the effect of a gene
at another locus.
Epistatic genes are sometimes called
inhibiting genes because of their effect on
other genes which are described as
hypostatic.

46
For example Mouse Colour
In mice and other rodents, the gene for pigment
deposition (C) is epistatic to the gene for pigment
(melanin) production.
In other words, whether the pigment can be
deposited in the fur determines whether the coat
color can be expressed.


47
One gene for pigment (melanin) production :
B = Black fur, b= brown fur,
Another gene is the gene for pigment deposition
(C)
Homozygous recessive for pigment deposition (cc)
will result in an albino mouse regardless of the
genotype at the black (B)/brown (b) locus (BB, Bb
or bb)
CC = normal pigment production =
C dominant over c NO pigment produced
(recessive).
E.g.:A Black mouse BBCC is crossed with an
Albino mouse bbcc.
All F1 offspring will be black mice BbCc
48
Then if we cross mice from the F1 generation
(BbCc X BbCc), the gametes each mouse could produce
would be (BC, Bc, bC, and bc).

49


BC

Bc

bC

bc

BC BBCC - black BBCc - black BbCC - black BbCc - black
Bc BBcC - black BBcc - albino BbCc - black Bbcc - albino
bC BbCC - black BbCc - black bbCC - brown bbCc - brown
bc BbCc - black Bbcc - albino bbCc - brown bbcc - albino
If epistasis occurs between two
nonallelic genes, the phenotypic
ratio resulting from a dihybrid
cross will deviate from the
9:3:3:1 Mendelian ratio.

Even though both genes affect
the same character (coat color),
they are inherited separately and
will assort independently during
gamete formation.
A cross between black mice that
are heterozygous for the two
genes results in a 9:3:4
phenotypic ratio:
The F2 would be =
9 black : 3 brown : 4 albino


50
Multiple alleles can be of more than 2
forms of the allele.
E.g. human ABO blood group where it has
3 different alleles for blood type:
I
A
(Type A)
I
B
(Type B)
i (Type O)
We can only have 2 of three alleles in an
individual.
4.2.3: Multiple Alleles
They combine to
form genotypes
that result from
codominant.
The different
genotypes of
blood will produce
the following
phenotypes:

Type O Type A
P i
O
i
O
x I
A
I
A


G

F1 I
A
i
O
blood type A

F1 x F1 I
A
i
O
x I
A
i
O

G

F2
i
O
I
A
i
O
I
A
i
O
I
A
Gametes I
A
I
o
I
A
I
A
I
A
I
A
i
O
i
O
I
A
i
O
i
o
i
O
The phenotypic ratio:
3 blood type A : 1 blood type O

The genotypic ratio is:
1 I
A
I
A
: 2 I
A
i
o
: 1 i
o
i
o

Again, this shows a 1:2:1 ratio for
genotype

Lethal alleles are alleles which bring about
death.
There are 2 types of lethal alleles:
1) dominant lethal genes (cause death even in
heterozygous condition)
2) recessive lethal genes
4.2.4: Lethal Alleles
The gene yellow (in mice) show unusual patterns of
inheritance.
A) Yellow mice crossed to wild type mice give a
1 yellow to 1 wild type (1:1) ratio in the progeny.
Yellow fur is due to a single dominant allele of a
gene.
Yy (yellow) X yy (wild type)
1 Yy (yellow) : 1 yy (wild type).



Recessive lethal genes
B) Yellow mice crossed yellow mice
produce 2 yellow : 1 wild type (2:1) ratio and no
true breeding line of this allele of yellow mice exists.

Yy (yellow) X Yy (yellow)
2 Yy (yellow) : 1 yy (wild type).
Note that the YY class is missing from the 1:2:1
ratio.

Yy (yellow) X Yy (yellow)
1 YY lethal: 2 Yy(yellow) : 1 yy (wild type).



All the yellow rodents have a genotype Yy
Although the Y allele is dominant for fur colour
it is recessive for lethal characteristic.

In polygenic inheritance, the character of
an organism is controlled by more than
one gene.
The final phenotype characteristic of an
organism is the additive or cumulative
effects of these genes with each gene
contributing a small amount to the
phenotype.
A polygenic trait is a quantitative trait that
exhibits continuous variation & is easily
affected by environmental factors.
4.2.5:Polygenes/polygenic Inheritance
Variations to a polygenic trait can be
clearly observed in a population.
They are slight different between group of
individuals in a population for a polygenic
trait.
E.g. in human are height, weight, eye
colour, skin colour & intelligence.
The human skin colour is controlled by 2
pairs of alleles; P, p & H, h.
P & H are dominant alleles that contribute
to dark skin.
p & h are recessive genes.
Degree of
darkness
Phenotype Genotype
-
X
XX
XXX
XXXX
Fair
Slightly dark
Quite dark
Dark
Very dark
pphh
ppHh, Pphh
PPhh, ppHH, PpHh
PPHh, PpHH
PPHH
PPhh, ppHH, PpHh PPhh, ppHH, PpHh
Human skin
colour
Human eye colour
The condition in which different genes are
located on the same chromosome.
Linked genes tend to be inherited
together.
The dihybrid inheritance for linked genes
is similar to the mechanism for
monohybrid inheritance since the 2 linked
genes act as a single unit when passed
from parents to their offspring.
4.2.6: Linked gene
The F
2
phenotype ratio is 3 :1 & the
phenotype combination is the same as the
parents.
The dihybrid phenotype ratio is not
obtained.
A test cross result in a phenotype ratio is
not 1:1:1:1.
E.g. A dihybrid cross for a pair of
characteristics determined by 2 linked
genes is the inheritance of abdomen
shape & wing shape in Drosophila
melanogaster.

L dominant allele for wide abdomen
l recessive allele for narrow abdomen
P dominant allele for long wing
p recessive allele for vestigial wing

Wide abdomen x narrow abdomen
P long wing vestigial wing
LP/LP x lp/lp

G

F1 LP/lp LP/lp LP/lp LP/lp

F1 x F1 Lp/lp x LP/lp



F2 LP/LP LP/lp LP/lp lp/lp
Abdomen shape
Wing shape
LP
lp
LP
lp
LP
lp LP lp
Phenotypic ratio:
3 wide abdoment : 1 narrow
long wing vestigial

Genotypic ratio:
1 LP/LP : 2 LP/lp : 1 lp/lp

The slanting line (/) is used
to indicate linkage.
Effect of crossing over
Linked genes are
sometimes not
inherited together.
The exchange of
chromosomal
contents between
non-sister chromatids
of paired homologous
chromosomes takes
place at a place
known as chiasma
during prophase I
meiosis.
Resulting in cases where F2 having 2
smaller groups with characteristic that
have been rearranged (recombinant)
apart from the 2 main group with
combination of characteristic similar to that
of the P generation (non-
recombinant/parental combination).
The test cross result is not 1 : 1 : 1 : 1
for F2 genes.
E.g. Drosophila melanogaster have genes:
C dominant allele for grey
c recessive allele for black
W dominant allele for normal wing
w recessive allele for vestigial wing
( GB/NW) (BB/VW)
P: CW/CW X cw/cw

gametes:

F1: CW/cw (GB/NW)
F1 undergo CW/cw x cw/cw (test cross parent)
test cross:
Gametes:

F2 : CW/cw cw/cw Cw/cw cW/cw
GB/NM BB/VW GB/VW BB/NW
Non-recombinant / Recombinant phenotype
parental phenotype
Body
colour
Wing
shape
CW cw cw cW Cw
cw CW
Sex determination in Human
Human sex is determined by a pair of sex
chromosomes called X and Y.
Because these chromosomes do not look
alike they are called heterosomes.
All other chromosomes are called
autosomes.
Every human cell contains 23 pairs of
chromosomes.
Females have 2 large X chromosomes
(XX), male have one chromosome X & one
Y chromosome (XY).
During meiosis, the sex chromosomes pair
up & segregate into the daughter cells.
Males are heterogametic sex because they
produce different sperm: approximately
50% contain an X chromosome & 50%
have a Y.
Females produce homogametic sex
because all of their eggs contain an X
chromosome.
4.2.7: Sex Linked Genes
Genes located on the sex chromosomes
are called sex-linked genes & the pattern
of inheritance of such characteristics
follows the principle of sex determination.
Not all genes on sex chromosomes are
concerned with sex determination.
In human, the Y chromosome carries very
few genes & most of these are not
involved in sex determination.
The X chromosome carries many genes
which control non-sexual, sex-linked
characteristics such as:
- haemophilia It is a disease where blood
does not clot normally.
- colour blindness in human
- Drosophila eye colour

X
N
- normal
X
n
- haemophilia

A carrier mother and a haemophiliac father.
P: X
N
X
n
x X
n
Y

G:

F1: X
N
X
n
X
n
X
n
X
N
Y X
n
Y

The phenotypic ratio of their children will be:
1 haemophiliac female
1 carrier female
1 normal male
1 haemophiliac male
X
N
X
n
X
n
Y
Haemophilia
Colour blindness in human
Color blindness is an abnormal condition
characterized by the inability to clearly
distinguish different colors of the
spectrum. The difficulties can be mild to
severe.
It is a misleading term because people
with color blindness are not blind. Rather,
they tend to see colors in a limited range
of hues; a rare few may not see colors at
all.

Colour-blindness is a recessive gene and this is
why colour-blindness is more dominant in men
than women.
Men only have one X chromosome and if it
carries the colour-blindness gene then they are
colour- blind.
If a woman has one chromosome that carries
the gene and one that does not, then she will not
be colour-blind but is said to be a carrier.
One in twenty men are colour-blind, whilst only
one in two hundred women have the condition.
For a woman to be colour-blind, in the inherited
form, her mother must be either a carrier of the
gene or colour- blind and her father must have
been colour-blind too.
Because the colour-
blind gene is
recessive, a colour-
blind male and a
normal female will
have no colour-blind
offspring.
(see Image )
However, the
colour-blind gene
may skip a
generation because
the females are
carriers.
N on the X chromosome denotes the dominant
normal Gene.
n on the X chromosome denotes
the recessive colour-blind gene.
If a woman is colour-blind
then she will be able to
produce colour-
blind males, and female
carriers.
(see Image ) If the father is
also colour-blind all offspring
will be colour-blind. This also
means that colour-
blind females can only be
produced where both parents
are colour-blind or where the
father is colour-blind and the
mother is a carrier of the
gene, in the inherited form of
Red / Green colour-
blindness.



From this Image we
can see that a normal
male and a carrier
female will have 1 in 2
chance of producing
offspring that do not
carry the gene, but they
have a 1 in 4 chance of
producing a male that is
affected by the
condition, and the same
chance of producing a
carrier female.

Drosophila eye colour
The alleles for eye color is
on the X chromosome of
Drosophila, but not on the
Y.
Red eye color (w+) is
dominant to white eye
color (w).



P: X
w+
X
w+
x X
w
Y

G:


F1: X
w+
X
w
X
w+
X
w
X
w+
Y X
w
Y
2 Red eyed female : 1 Red eyed male: 1 white eyed male
X
w
X
w+
X
w+
Y
4.3: GENETIC MAPPING
= is a technique used to study the relative position
& sequence of genes on a chromosome & can
only be carried out if the genes are linked &
crossing over takes place.
According to Morgan, due to his study on the X
chromosome of Drosophila melanogaster
genes are arranges in a linear sequence along
the chromosome and each gene takes up a
position called locus.
The allele for each gene takes up a relatively
similar locus on the homologous chromosome.

Linked genes which are situated very
close to each other usually cannot be
separated by crossing over during meiosis
only gametes with a parental
combination are produced.
When the genes are situated far from each
other, the chance for crossing over to
occur between them is greatly increased
more gametes of the recombinant type
being produced.

The further the 2 genes are situated, the
greater is the chance for the chromatid to
break in and rejoin between the genes
during crossing over. The crossing
over frequency is directly proportional to
the distance between the 2 genes.




(a) Two pairs of sister chromatids align during meiosis. A1 and B1 are
located on the same chromosome. A2 and B2 are located on a
different chromosome. (b) DNA crossover leads to recombination if
the chiasma is located between the two loci.
The formula to determine the % of
crossing over or cross over value
(COV)
COV = total no of recombinant x 100%
total no of offspring
E.g. Test cross progeny data
Genotype No of individual
AB/ab
Ab/ab
aB/ab
AB/ab
480
480
20
20
COV = total no of recombinant x 100%
total no of offspring
= 40 x 100% = 4%
1000

One map unit = 1 morgan
Map distance = 4 units

Chromosome map

A
B
4 units
E.g. 2:
An experiment has been carried out & the
following COV between genes X, Y & Z
has been obtained.

Crossing over between cross over value
X & Y 20%
Y & Z 15%
X & Z 5%

Draw a chromosome map indicating the relative position genes X, Y & Z.
X
Z
Y
5
15
95
4.4: PEDIGREE ANALYSIS
= Family pedigree is a table, chart or
diagram representing the ancestral history
of a group of related individuals.
It describes the inter-relationships of
parents & children across the generation.
Generations are identified with Roman
numerals in a vertical sequence on the left
hand side.
96
Horizontal lines of squares & circles
show individuals in each generation,
squares for males & circles for females.
A solid horizontal line connecting a
male & female represents a marriage.
Descending vertical lines illustrate
progeny with the siblings arranged in
order of age from left to right.

97
Numbers identify members of a generation
along with their spouses.
Shaded squares & circles represents
individual expressing a particular trait.
Symbols used in a pedigree chart:
normal male
normal female
marriage
affected male
affected female
98
99
100
29/12/13 (Sunday)- due
date for genetic
inheritance essay of 25
marks (questions in Extra
exercise)
2/1/14 (Thursday)- Quiz 4
(Genetic), due date mind
map and Extra exercise
6/1/14 (Monday)- due
date genetic calculations


101
Pedigree Analysis

Introduction
A pedigree is a diagram of family relationships that uses
symbols to represent people and lines to represent
genetic relationships. These diagrams make it easier to
visualize relationships within families, particularly large
extended families. Pedigrees are often used to determine
the mode of inheritance (dominant, recessive, etc.) of
genetic diseases. A sample pedigree is below.
In the pedigree above, the
grandparents had two
children, a son and a
daughter.
The son had the trait in
question.
One of his four children also
had the trait.
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I
II
III
1 2
1
1
2
4 3
Circle = female
Square = male
Roman numerals = generations
Arabic numerals = individuals within a generation
Coloured = individuals with trait being tracked
In a pedigree, squares represent males and circles
represent females.
Horizontal lines connecting a male and female
represent mating.
Vertical lines extending downward from a couple
represent their children.
Subsequent generations are therefore written
underneath the parental generations and the oldest
individuals are found at the top of the pedigree.
If the purpose of a pedigree is to analyze the pattern of
inheritance of a particular trait, it is customary to shade
in the symbol of all individuals that possess this trait.
In the pedigree above, the grandparents had two
children, a son and a daughter.
The son had the trait in question.
One of his four children also had the trait.
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Clues (non sex-linked)
o Recessive:
individual expressing trait has 2
normal parents
two affected parents can not have an
unaffected child
o Dominant:
every affected person has at least one
affected parent
each generation will have affected
individuals
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Eg: inheritance of hemophilia in the British Royal family
- shows inheritance of single sex-linked recessive gene
PEDIGREE ANALYSIS
The pedigree for red hair inheritance in three generations illustrates the use of a
pedigree.
In generation I, two individuals (I-2 & I-3) have red hair. No individuals in generation II
show the trait, but it reappears in generation III in individuals III-2 and III-3.
The reappearance of the trait in generation III among children whose parents' hair is not
red indicates that red hair is a recessive characteristic.
If it was caused by a dominant allele, at least one of the parents would have been
carrying it, and therefore would have had red hair.
This is not the case.
With a recessive allele, both parents could be carrying it (as heterozygotes) without
showing the trait. .
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It is not always possible to tell if a recessive gene
is sex-linked or autosomal.
However, this pedigree does give us enough
information to determine that the red hair
recessive gene is autosomal.
Individual III-3 is an affected female.
If the allele was X-linked, this female would have
received it from both her parents.
This is not possible because her father (individual II-
3) would have had red hair (males only have one
allele of X-linked genes because they have a Y
chromosome instead of a second X chromosome).
The gene cannot be Y-linked because females have
the trait.
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2. Trait A Pedigree
Use the Pedigree for Trait A to determine the genetic basis
of this trait.
1. Does a dominant or recessive allele produce the
trait? Explain. Recessive because it can skip generations
unaffected individuals can have affected children
2. Is it autosomal or sex-linked? Explain. Autosomal In this
case, the male II-4 is unaffected, but passes the trait on,
so it cannot be x-linked.
3. What are the genotypes of all the individuals in the
pedigree? (Write them on the pedigree.)

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4. What is the genotype of individual IV 2?
Explain. IV-2 may be a carrier 50% chance,
although since her siblings are unaffected it is
possible that mom was not a carrier, in which
case this individual would be normal
5. What is the genotype of individual IV-
6? Explain. Must be a carrier as one of their
children is affected.

6. What is the genotype of individual I-
1? Explain I-1 is likely normal as none of his
kids are directly affected, although with a small
number of offspring, there is a possibility that
he could be a carrier.
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