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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 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


© 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
                     XrY
© 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
                     XrY               White-eyed male
© 2007 Paul Billiet ODWS
P Phenotypes                    Wild type      x   White-eyed
                                (red-eyed)            male
                                  female
       Genotypes                  XRXR                   XrY

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

© 2007 Paul Billiet ODWS
F1 Phenotypes                 Red-eyed      x    Red-eyed
                                 female              male
          Genotypes               XRXr                 XR Y

          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

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01 sex linkage(Dr.Endom(FST Genetic))

  • 1. SEX LINKAGE Characters which are associate more with one gender © 2007 Paul Billiet ODWS
  • 2. 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
  • 3. 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
  • 4. 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
  • 5. 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
  • 6. 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
  • 7. 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 © 2007 Paul Billiet ODWS
  • 8. 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
  • 9. Genetic diagram for sex linked genes Character Trait Alleles Eye colour Red eye R White eye r Genotypes Phenotypes XRXR XRXr XrXr XRY XrY © 2007 Paul Billiet ODWS
  • 10. 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 © 2007 Paul Billiet ODWS
  • 11. P Phenotypes Wild type x White-eyed (red-eyed) male female Genotypes XRXR XrY Gametes XR XR Xr Y Fertilisation Xr Y XR XRXr XR Y XR XRXr XR Y © 2007 Paul Billiet ODWS
  • 12. F1 Phenotypes Red-eyed x Red-eyed female male Genotypes XRXr XR Y Gametes XR Xr XR Y Fertilisation XR Y XR XRXR XRY Xr XRXr XrY © 2007 Paul Billiet ODWS
  • 13. 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
  • 14. 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
  • 15. Tortioseshell Cats are Female © 2007 Paul Billiet ODWS
  • 16. Daltonism = Red-Green Colourblindness Normal vision Colour blind simulation http://www.onset.unsw.edu.au/issue1/colourblindness/colourblindness_print.htm © 2007 Paul Billiet ODWS
  • 17. 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
  • 18. 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!
  • 19. 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
  • 20. 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
  • 21. 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
  • 22. 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