Topic 4.

Theoretical Genetics
Definitions
 Segregation

Through meiosis
Yellow pea plants and fertilization,
must be heterozygous. some offspring peas
The yellow phenotype are homozygous
is expressed. recessive – they
express a green
color.
Monohybrid
Cross
Crossing a single trait

F Genotype:

Gametes:

Punnett
square:

F Genotypes:

Phenotypes:

Phenotype
Ratio:
Monohybrid
Cross
Crossing a single trait

F Genotype:
Key to alleles:
Gametes: Y = yellow
y = green

Punnett
square:

F Genotypes:

Phenotypes:

Phenotype
Ratio:
Monohybrid
Cross
Crossing a single trait

F Genotype:
Key to alleles:
Gametes: Y = yellow
y = green

Punnett
square:

F Genotypes:

Phenotypes:

Phenotype
Ratio:
Monohybrid
Cross
Crossing a single trait

F Genotype:
Key to alleles:
Gametes: Y = yellow
y = green

Punnett
square:

F Genotypes:

Phenotypes:

Phenotype
Ratio:
 Test Cross – used to determine the genotype of an
unknown individual. The unknown is crossed with a known homozygous
recessive
Key to alleles:
Phenotype:
F R = red flower
r = white
Genotype:

Possible Outcomes:

Phenotypes:

F Unknown parent = RR Unknown parent = Rr

Phenylkentonuria
(PKU)

Is PKU dominant or recessive? How do you

know?
Phenylkentonuria (PKU)
Phenylketonuria (PKU) is a rare condition in which a baby is born without the
ability to properly break down an amino acid called phenylalanine. It is a
recessive mis-sense mutation.
 Key to alleles:
Pedigree Charts T = has enzyme
t = no enzyme
Pedigree Charts Key to alleles:
T = has enzyme
t = no enzyme
Pedigree Chart Practice

Female Male

affected

Not affected

decease
d

Autosomal or Sex Linked?

- Autosomal: Male C can only pass on
Dominant or one X chromosome. If it were carried on
Recessive? X then daughter H would be affected as
- Dominant: A and B well.
are both affected but
have produced an
unaffected D and F,
therefore A and B must
be carrying healthy
recessive alleles.
 MULTIPLE
ALLELES
Genes which have more than two
alleles

© 2007 Paul Billiet ODWS

 Genes and their alleles

 About 30% of the genes in humans

are di-allelic, that is they exist in two
forms, (they have two alleles)
 About 70% are mono-allelic, they
only exist in one form and they show
no variation
 A very few are poly-allelic having
more than two forms

© 2007 Paul Billiet ODWS

 Combinations

 Di-allelic genes can generate 3 genotypes

 Genes with 3 alleles can generate 6
genotypes (3+2+1)
 Genes with 4 alleles can generate 10
genotypes
 Genes with 8 alleles can generate 36
genotypes

© 2007 Paul Billiet ODWS

 Genes and the immune
system
 Poly-allelic alleles are usually associated
with tissue types
 These genes are so varied that they
provide us with our genetic finger print
 This is very important to our immune
system which must tell the difference
between our own cells (self) and invading
disease causing microbes (non-self)

© 2007 Paul Billiet ODWS

 The ABO blood system
 This is a controlled by a tri-allelic gene
 It can generate 6 genotypes

 The alleles control the production of antigens on

the surface of the red blood cells
 Two of the alleles are codominant to one another
and both are dominant over the third

 Allele IA produces antigen A

 Allele IB produces antigen B
 Allele i produces no antigen
© 2007 Paul Billiet ODWS
 The ABO blood system
Genotypes Phenotypes (Blood types)
IA IA A
IA IB AB
IA i A
IB IB B
IBi B
ii O
Note:
 Blood types A and B have two possible genotypes –
homozygous and heterozygous.
 Blood types AB and O only have one genotype each.

© 2007 Paul Billiet ODWS

 Blood types and transfusions

 Blood types vary and your immune

system recognises your own blood type
as being self
 Other blood types are recognised as
non-self
 If a blood which is incompatible with your
body is transfused it will result in the
agglutination of the foreign red blood
cells

© 2007 Paul Billiet ODWS

 Antigens

© Bioformatica

© Biology Labs Online

Agglutination

© Dr Delphine Grézel, Ecole Nationale Vétérinaire de Lyon

 Blood types and transfusions
 People who are Type A blood produce antibodies
to agglutinate cells which carry Type B antigens
They recognise them as non-self
 The opposite is true for people who are Type B
 Neither of these people will agglutinate blood cells
which are Type O
Type O cells do not carry any antigens for the
ABO system
Type O cells pass incognito
 What about type AB people?

© 2007 Paul Billiet ODWS

 Donor-recipient compatibility
Recipient
Type A B AB O
A
Donor B
AB
O

Note:
 Type O blood may be transfused into all
= Agglutination the other types = the universal donor.
 Type AB blood can receive blood from all
= Safe transfusion the other blood types = the universal
recipient.
© 2007 Paul Billiet ODWS
 SEX LINKAGE

Characters which are associate more

with one gender

© 2007 Paul Billiet ODWS

 Characters associated with
gender
Anhiorotic ectodermal dysplasia
 Small teeth, no sweat glands, sparse
body hair
 Occurs primarily in men

 Never transmitted from father to son

 Unaffected daughters may pass the

condition onto their sons (the
grandsons)
© 2007 Paul Billiet ODWS
 Sex linkage explained
http://nobelprize.org/nobel_prizes/medicine/articles/lewis/index.html

 Thomas Hunt Morgan in The Fly Room!

(Columbia University 1910)
 Fruit Flies (Drosophila melanogaster)

© 2007 Paul Billiet ODWS

 The case of the white-eyed mutant

Character Traits
Eye colour Red eye (wild type)
White eye (mutant)

P Phenotypes
Wild type (red-eyed) female x White-eyed male

F1 Phenotypes All red-eyed

Red eye is dominant to white eye

© 2007 Paul Billiet ODWS

 Hypothesis

A cross between the F1 flies should give us: 3 red

eye : 1 white eye

F2 Phenotypes Red eye White eye

Numbers 3470 782

82% 18%

So far so good

© 2007 Paul Billiet ODWS

 An interesting observation

F2 Phenotypes Red- Red- White- White-

eyed eyed eyed eyed
males females males females
Numbers 1011 2459 782 0
24% 58% 18% 0%

© 2007 Paul Billiet ODWS

 A reciprocal cross

Morgan tried the cross the other way around

white-eyed female x red-eyed male

Result
All red-eyed females and all white-eyed males

This confirmed what Morgan suspected

The gene for eye colour is linked to the X
chromosome

© 2007 Paul Billiet ODWS

 A test cross

Phenotypes F1 Red-eyed female x White-eyed male

Expected result
50% red-eyed offspring: 50% white-eyed offspring
Regardless of the sex

Observed Results
Red-eyed Red-eyed White-eyed White-eyed
Males Females Males Females

132 129 86 88
© 2007 Paul Billiet ODWS
 Genetic diagram for sex linked genes
Character Trait Alleles
Eye colour Red eye R
White eye r

Genotypes Phenotypes
XRXR
XRXr
XrXr
XRY
X rY
© 2007 Paul Billiet ODWS
 Genetic diagrams for sex linked genes
Character Trait Alleles
Eye colour Red eye R
White eye r

Genotypes Phenotypes
XRXR Red-eyed female
XRXr Red-eyed female
XrXr White-eyed female
XRY Red-eyed male
X rY White-eyed male
© 2007 Paul Billiet ODWS
 P Phenotypes Wild type x White-eyed
(red-eyed) male
female
Genotypes XRXR Xr Y

Gametes XR XR Xr Y
Fertilisation Xr Y
XR XRXr XRY
XR XRXr XRY

© 2007 Paul Billiet ODWS

 F1 Phenotypes Red-eyed x Red-eyed
female male
Genotypes XRXr XRY

Gametes XR Xr XR Y

Fertilisation XR Y
XR XRXR XRY
Xr XRXr XrY

© 2007 Paul Billiet ODWS

 F2 Phenotypes Females Males
Red- White- Red- White-
eyed eyed eyed eyed
Expected All None 50% 50%
Observed 2459 0 1011 782

This gene has its LOCUS on the X-chromosome

It is said to be SEX-LINKED
© 2007 Paul Billiet ODWS
 X-linked genes
 In sex linked characteristics the reciprocal crosses
do not give the same results
 For X-linked genes fathers do not pass the mutant
allele onto their sons
 For X-linked genes fathers pass the mutant allele
onto their daughters who are carriers
 Carrier mothers may pass the allele onto their sons
(50% chance)
 Females showing the trait for an X-linked mutant
allele can exist but they are rare
 Female carriers may show patches of cells with
either trait due to X chromosome inactivation
© 2007 Paul Billiet ODWS
 Tortioseshell Cats are Female

© 2007 Paul Billiet ODWS

 Daltonism = Red-Green
Colourblindness

Normal vision Colour blind simulation

http://www.onset.unsw.edu.au/issue1/colourblindness/colourblindness_print.htm

© 2007 Paul Billiet ODWS

 LIGHT
The retina

Optic
nerve
fibres Ganglion layer

Bipolar cells
(neurones)
Synapse layer
Rod cell
Nuclear layer

Inner segments packed with

Cone
mitochondria
cell
Rod and cone outer
segments

© 2007 Paul Billiet ODWS

 PHOTORECEPTION
VISION COLOUR MONOCHROME
PHOTORECEPTOR CONES: RODS: max. sensitivity
red sensitive 560nm 505nm
green sensitive 530nm
blue sensitive 420nm
DISTRIBUTION Concentrated in the fovea Widely spread over whole
retina, absent from fovea
PIGMENTS 3 proteins controlled by 3 genes. RHODOPSIN = Retinol
Red and green pigments sex linked (Vit A) + Opsin (a protein).
Blue pigment autosomal (Chr.7) Also called visual purple
BLEACHING Slow Fast (very sensitive)
REGENERATION Slow (after images in bright light, Fast
complementary colours)
USE Daylight vision Night vision
Light adaptation 5 min Dark adaptation 20 min or
© 2007 Paul Billiet ODWS
wear red goggles!
 Blood Clotting and Haemophilia

A simplified scheme of the important steps

Damaged blood vessels

Prothrombin Thrombin
Inactive enzyme Active enzyme

Fibrinogen Fibrin = Clot

Globular protein Fibrous protein
© 2007 Paul Billiet ODWS
 Contact with collagen fibres
in blood vessels
Factor III
Thromboplastin released
from blood vessel walls
Factor XII (inactive)  Factor XII (active)

Factor XI (inactive)  Factor XI (active)

Factor IX (inactive)  Factor IX (active)

Antihaemophilic factor B
Factor VIII
Antihaemophilic factor A
Factor X (inactive)  Factor X (active)

Ca2+ ions and blood platelets

Factor II (inactive)  Factor II (active)
Vitamin K precursor Prothrombin Thrombin

Factor I (inactive)  Factor I (active)

© 2007 Paul Billiet ODWS Fibrinogen Fibrin
 The antihaemophilic factors

 The blood clotting reaction is an enzyme

cascade involving Factors XII, XI, IX, X and II
 Each of these enzymes are proteases that cut
the next protein in line
 Other factors including proteins like Factor
VIII are essential as coenzymes

© 2007 Paul Billiet ODWS

 Heamophilia
 About 85% of haemophiliacs suffer from
classic haemophilia (1 male in 10 000)
 They cannot produce factor VIII
 The rest show Christmas disease where they
cannot make factor IX
 The genes for both forms of haemophilia are
sex linked
 Haemophiliacs do clot their blood slowly
because there is an alternative pathway via
thromboplastin
© 2007 Paul Billiet ODWS