Sex Linkage
Genes linked to the sex
chromosomes
Linked genes
Genes for different characters inherited
as if they were a single character
These genes are called LINKED GENES
That is the LOCI for these genes are
linked on the same chromosome.
Sex linkage explained
http://nobelprize.org/nobel_prizes/medicine/articles/lewis/index.html
Thomas
Hunt
Morgan
in
The Fly Room! (Columbia University 1910)
Sex linkage explained
Fruit Flies (Drosophila melanogaster)
Drosophila characteristics
sex comb on
the tarsus of a
fore leg
Female wild type Male vestigial wing
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.
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…
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%
A reciprocal cross
Morgan tried the cross the other way round
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.
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
Genetic diagram for sex linked genes
Character Trait Alleles
Eye colour Red eye R
White eye r
Genotypes Phenotypes
XRXR
XRXr
XrXr
XRY
XrY
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
XrY White-eyed male
Genetic diagrams for sex linked genes
P Phenotypes Wild type x White-eyed
(red-eyed) male
female
Genotypes XRXR XrY
Gametes XR XR Xr Y
Fertilisation Xr Y
XR XRXr XRY
XR XRXr XRY
Genetic diagrams for sex linked genes
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
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.
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.
Tortioseshell
Cats are
Female
Daltonism = Red-Green
Colourblindness
Normal vision Colour blind simulation
www.onset.unsw.edu.au/.../colourblindness.htm
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
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
wear red goggles!
Blood Clotting and Hemophilia
A simplified scheme of the important steps
Damaged blood vessels
Prothrombin Thrombin
Inactive enzyme Active enzyme
Fibrinogen Fibrin = Clot
Globular protein Fibrous protein
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)
Antihemophilic factor B
Factor VIII
Antihemophilic 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)
Fibrinogen Fibrin
The antihemophilic 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.
Hemophilia
About 85% of hemophiliacs suffer from classic
hemophilia (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 hemophilia are sex
linked
Hemophiliacs do clot their blood slowly because
there is an alternative pathway via
thromboplastin.
European Royals &
Hemophilia
Royal family pedigree
