زائر
ytgenetis
Sex hmsme abeatins:-
1- Y – hmsme :-
10% f mae have a y- hmsme that is nge shte than the sa. This hediety feate f ng y seen t be assiated with an inease isk f abtin.
Sex hmatid:-
The N. f sex hmatin is ne ess than the N. X. Ba's Bdy (1949) epesent ne f tw x-hmsme. yn hypthesis state that :-
1- in the smati e in the femae , ny ne X- hmsme is ative , whie the send is ndensed & inative and appea in intephase e as sex hmatid .
2- Inativatin s eay in embyni ife.
3- The inative X an be eithe the Patena ( x ) Matena ( x ) . inativatin is andm bt fixed , afte the deisin as t whih X wi be inativated .
The Genetis nseqenes f X-hmsme inativatin :
1- dsage mpensatin : the amnt f pdt f x-ink genes sh as G6PD Antihaempheti gbin is eqivaent in the tw sexes . the pesene f an exess Xs wi pdt abnma phentype .
2- the vaiabiity in expessin , in hetezygte femae , the expessin f phentype is vaiabe ,speiay in femae hetezygte sh as in e ,bindness , hemphiia ,distams ,Dhenne , msa dystphy ,msais . these phenmenn have vaiabe expessins .
Sex hmsme abnmaities:-
ategies:
A- Nmeia Disde ( abeatin)
B- Stta Disde ( """""""")
A- Nmeia Abeatins :
mainy by the nn-disjntin in the fist send meiti divisin . in sme instanes it may happen in the eavage divisin . in the femaes the nn-disjntin say in the fist meiti divisin , bt in maes in the send meiti divisin .
The mehanism f Keinifete Syndme & Tnne's Syndme :-
In the fist meiti divisin tw Xs fai t disjin and they have gne ne vm this wi give an vm with tw Xs , if it's fetiized by a nma Y spem ; this wi give ise t an infant with Keinifete syndme whih is XXY. In same instane when ne vm ntaining n X & then fetiized with a nma Y spem , this wi give aise t Tnne's syndme whih is X0 45X.
In additin t XXY Keinifete syndme ,thee may be the vaiants giving the same me seve type f Keinifete syndme sh as XXYY , XXXY ,XXXXY . 30% f Keinifete ae msai with tw me ine f es , the majity f ases ae infants f de wmen .
Keinifete syndme patient ae haateized by :
1- sb menta etadatin
2- edema f the feet
3- sht nek
4- fat nippe
5- ng imbs
6- the gentype is XXY
Tnne's syndme : is the syndme f infantiism , sht state , wepping f the nek and bita vgs .
The gentype is X 45X
Tne syndme is an inidene in spntanes fist timeste abtin . ny 60% f tne syndme have ny ne X, the emainde eithe as stta vaiant msai.
This msaisism ntibte 5% f tne syndme with many phentypi
Mti X Syndme:
If in the the hand the va with tw X fetiized by x spem , this wi give a femae infant with XXX. This is aed spe femae , with additin f ne x the femae say hge and tend t be aggessive . with additin f me Xs this wi ase me deteiatin f menta abiity 7 me abnmaity .
- Disde f sexa devepment with nma hmsme :-
1- hemaphdatism :
2- te hemaphdatism is atay mpetey ae , the geate gentype f hemaphdatism is xx in sme instanes they ae xy thes ae msai
3- Psed hemaphdatism :
This phenmenn is nike the te ne , the sbjet have a gnada tisse f ny ne sex, bt ambigs genetaia
a- Mae psed hemaphdatism: in this ase the gentype is say XY ,s that thee ae few Ba's Bdies in thei smati es ( ess than 10 %) . these patients say have a femae extena genetaia with the absene f tes & vaies and pesene f testia tisses in the ingina egin , the gt f the abia maja mina . the vagina smea f these patients is mpetey atphi .
b- Femae Psed hemaphdatism :is as a est f ngenita adena gand hypepasia , the patient ae haateized by a bk in speifi step in tis bisynthesis esting in inease seetin f ATH & hypepasia f adena gand , this ead t msiizatin f femae fets with a nma genetaia . adena hypepasia in maes eads t ss f sats hene, eading t sats aises .
4- Mti Y Syndme : XYY, XYYY
Maes with a send y hmsme wee fnd t be feqent in mae in maximm isity pisns. Abt 3% f maes in pisns and menta hspitas ae XYY , amng the gps ve 6 feet ta , the pptin is ve 20. the XYY ae six time as ikey t be in pisns as XY maes. The ign f the XYY kaytype is the patena nn disjntin at the send meiti divisin whih pde yy spem. The XYY & the XXYY vaiants shae the feate f the XYY f Keinifete syndme.
Diaphagm
XY
X Y
X X YY
Xyy
Xxyy
Patten f tansmittin f Singe
Gene Tait
Gentype & mating type :
If T is sed f the nma ae (atenative gene) and t f abnma ae f this easn Tt phentype is nsideed as a hetezygte, TT & tt is hmzygte, the fme nma & the ast abnma genes
Tt * Tt
T
t
T
TT Tt
t
Tt tt
if the T is the dminant gene , the est f this mating shd be thee affeted & ny ne nma .
man has 22 pai f atsmes , and ne pais f sex hmsme , thee ae tw mdes f inheitane depending pn the hmsmethat aying inheited haate . ading t this , the inheitane is divided int tw type :-
1- Atsma inheitane
2- Six hmsme inheitane
1- Atsma inheitane :-
Eah gene have speifi psitin ang the hmsme aed a s . Aees ae the atenative genes , whih sitate at an identia s n a pai f hmges hmsme . when the tw genes ( aees) ae diffeent ( ne dminant & the the eessive ) the individa is hetezygte . the dminant gene expess themseves whethe pesent in hmzygs hetezygs state . The eessive genes expess themseves ny when they ae pesent in hmzygs state ex. ( tt ).
Atsma dminant inheitane: -
Ex.:- inseity – a hndpasia ( sht imb , dwafism )
Atsma dminant inheitane haateized by : -
1- it's nt infent by the maiage f eatives sex
2- the disease appea in evey in evey ne geneatin .
3- the affeted pesns tansmit a disease t 50% f his hiden if he maied a nma wmen .
tt * Tt
T
T
t
Tt tt
t Tt
Atsma eessive inheitane:-
Eg . Abinism – abinidism : ak f enzyme tysinase & hene pdtin f meanin , the nditin is pgessive ( the enzyme is destyed and nt epaed ). With age invve skin , eye , hai , & it is inheited
Abinism : inheitane f abnma gene .
As gatsaemia , ysti gibesis f the paneas . Tay – sah's syndme ( gangisidsis ) . Tysinaemia (with ive defet & bak ine, it's etha hepati disease .
- the Atsma eessive inheitane haateized by :-
1- it's affet bth mae &femae
2- it appeas ny when pesent in hmzygte state , n pesn wh psses a dbe dse f mtant gene .
3- nsangines maiage inease the isk f pding f Atsma eessive disease ,
4- it aise as a nseqene f a maiage f tw hetezygte . ( Tt-Tt)
14 f the hiden ae affeted .
- dminant and intemediate inheitane :-
If bth aees f a pai ae fy expessed in a hetezygte, this ae said t be -dminant . eg. Bd gps enzyme . AB has A & B antigens n Bs ,s the aees A &B ae -dminant . if the hetezygs is diffe fm bth hmzygs , the genes ae said t be shw intemediate inheitane sh as sike e anemia in sike e tait.
Mtipe Aeesim :-
when f a singe s , me than tw atenative aees exist in ppatin, the aees ae aed mtipe aees . eg.: AB gping ,the aees A , A1 , A2 & B ae shaed with many pepe , s they ae mtipe.
X- ink inheitane : -
The genes n Y hmsme ae f handi ( ny in maes ,inheitane that it n thgh maes ny . the maes ae hetezygte whie femaes ae hetezygte hmzygte . the Y – inked inheitane ae extemey imited sh as the hai pinna . the x-inked inheitane may be eessive dminant . patient with x-inked eessive inheitane ae haateized by : -
1- mh highe in maes than femaes
2- the tait pass fm affeted man t a his daghtes & n ne f his sns .
3- it passes fm a seies f aie femae .
eg. :- hemphiia – Dhene msa dystphy
XhY XH XH
X- inked dminant : -
haateized by
1- Affeted maes have n nma daghte and n affeted sn . if thee ae nma daghte & thee ae affeted sn the inheitane shd be Atsma .
2- the affeted hetezygte femae tansmit the disease t haf thei hiden f eithe sex if she may a nma mae .
XH Xh Xh Y
Sex hmsme abeatins:-
1- Y – hmsme :-
10% f mae have a y- hmsme that is nge shte than the sa. This hediety feate f ng y seen t be assiated with an inease isk f abtin.
Sex hmatid:-
The N. f sex hmatin is ne ess than the N. X. Ba's Bdy (1949) epesent ne f tw x-hmsme. yn hypthesis state that :-
1- in the smati e in the femae , ny ne X- hmsme is ative , whie the send is ndensed & inative and appea in intephase e as sex hmatid .
2- Inativatin s eay in embyni ife.
3- The inative X an be eithe the Patena ( x ) Matena ( x ) . inativatin is andm bt fixed , afte the deisin as t whih X wi be inativated .
The Genetis nseqenes f X-hmsme inativatin :
1- dsage mpensatin : the amnt f pdt f x-ink genes sh as G6PD Antihaempheti gbin is eqivaent in the tw sexes . the pesene f an exess Xs wi pdt abnma phentype .
2- the vaiabiity in expessin , in hetezygte femae , the expessin f phentype is vaiabe ,speiay in femae hetezygte sh as in e ,bindness , hemphiia ,distams ,Dhenne , msa dystphy ,msais . these phenmenn have vaiabe expessins .
Sex hmsme abnmaities:-
ategies:
A- Nmeia Disde ( abeatin)
B- Stta Disde ( """""""")
A- Nmeia Abeatins :
mainy by the nn-disjntin in the fist send meiti divisin . in sme instanes it may happen in the eavage divisin . in the femaes the nn-disjntin say in the fist meiti divisin , bt in maes in the send meiti divisin .
The mehanism f Keinifete Syndme & Tnne's Syndme :-
In the fist meiti divisin tw Xs fai t disjin and they have gne ne vm this wi give an vm with tw Xs , if it's fetiized by a nma Y spem ; this wi give ise t an infant with Keinifete syndme whih is XXY. In same instane when ne vm ntaining n X & then fetiized with a nma Y spem , this wi give aise t Tnne's syndme whih is X0 45X.
In additin t XXY Keinifete syndme ,thee may be the vaiants giving the same me seve type f Keinifete syndme sh as XXYY , XXXY ,XXXXY . 30% f Keinifete ae msai with tw me ine f es , the majity f ases ae infants f de wmen .
Keinifete syndme patient ae haateized by :
1- sb menta etadatin
2- edema f the feet
3- sht nek
4- fat nippe
5- ng imbs
6- the gentype is XXY
Tnne's syndme : is the syndme f infantiism , sht state , wepping f the nek and bita vgs .
The gentype is X 45X
Tne syndme is an inidene in spntanes fist timeste abtin . ny 60% f tne syndme have ny ne X, the emainde eithe as stta vaiant msai.
This msaisism ntibte 5% f tne syndme with many phentypi
Mti X Syndme:
If in the the hand the va with tw X fetiized by x spem , this wi give a femae infant with XXX. This is aed spe femae , with additin f ne x the femae say hge and tend t be aggessive . with additin f me Xs this wi ase me deteiatin f menta abiity 7 me abnmaity .
- Disde f sexa devepment with nma hmsme :-
1- hemaphdatism :
2- te hemaphdatism is atay mpetey ae , the geate gentype f hemaphdatism is xx in sme instanes they ae xy thes ae msai
3- Psed hemaphdatism :
This phenmenn is nike the te ne , the sbjet have a gnada tisse f ny ne sex, bt ambigs genetaia
a- Mae psed hemaphdatism: in this ase the gentype is say XY ,s that thee ae few Ba's Bdies in thei smati es ( ess than 10 %) . these patients say have a femae extena genetaia with the absene f tes & vaies and pesene f testia tisses in the ingina egin , the gt f the abia maja mina . the vagina smea f these patients is mpetey atphi .
b- Femae Psed hemaphdatism :is as a est f ngenita adena gand hypepasia , the patient ae haateized by a bk in speifi step in tis bisynthesis esting in inease seetin f ATH & hypepasia f adena gand , this ead t msiizatin f femae fets with a nma genetaia . adena hypepasia in maes eads t ss f sats hene, eading t sats aises .
4- Mti Y Syndme : XYY, XYYY
Maes with a send y hmsme wee fnd t be feqent in mae in maximm isity pisns. Abt 3% f maes in pisns and menta hspitas ae XYY , amng the gps ve 6 feet ta , the pptin is ve 20. the XYY ae six time as ikey t be in pisns as XY maes. The ign f the XYY kaytype is the patena nn disjntin at the send meiti divisin whih pde yy spem. The XYY & the XXYY vaiants shae the feate f the XYY f Keinifete syndme.
Diaphagm
XY
X Y
X X YY
Xyy
Xxyy
Patten f tansmittin f Singe
Gene Tait
Gentype & mating type :
If T is sed f the nma ae (atenative gene) and t f abnma ae f this easn Tt phentype is nsideed as a hetezygte, TT & tt is hmzygte, the fme nma & the ast abnma genes
Tt * Tt
T
t
T
TT Tt
t
Tt tt
if the T is the dminant gene , the est f this mating shd be thee affeted & ny ne nma .
man has 22 pai f atsmes , and ne pais f sex hmsme , thee ae tw mdes f inheitane depending pn the hmsmethat aying inheited haate . ading t this , the inheitane is divided int tw type :-
1- Atsma inheitane
2- Six hmsme inheitane
1- Atsma inheitane :-
Eah gene have speifi psitin ang the hmsme aed a s . Aees ae the atenative genes , whih sitate at an identia s n a pai f hmges hmsme . when the tw genes ( aees) ae diffeent ( ne dminant & the the eessive ) the individa is hetezygte . the dminant gene expess themseves whethe pesent in hmzygs hetezygs state . The eessive genes expess themseves ny when they ae pesent in hmzygs state ex. ( tt ).
Atsma dminant inheitane: -
Ex.:- inseity – a hndpasia ( sht imb , dwafism )
Atsma dminant inheitane haateized by : -
1- it's nt infent by the maiage f eatives sex
2- the disease appea in evey in evey ne geneatin .
3- the affeted pesns tansmit a disease t 50% f his hiden if he maied a nma wmen .
tt * Tt
T
T
t
Tt tt
t Tt
Atsma eessive inheitane:-
Eg . Abinism – abinidism : ak f enzyme tysinase & hene pdtin f meanin , the nditin is pgessive ( the enzyme is destyed and nt epaed ). With age invve skin , eye , hai , & it is inheited
Abinism : inheitane f abnma gene .
As gatsaemia , ysti gibesis f the paneas . Tay – sah's syndme ( gangisidsis ) . Tysinaemia (with ive defet & bak ine, it's etha hepati disease .
- the Atsma eessive inheitane haateized by :-
1- it's affet bth mae &femae
2- it appeas ny when pesent in hmzygte state , n pesn wh psses a dbe dse f mtant gene .
3- nsangines maiage inease the isk f pding f Atsma eessive disease ,
4- it aise as a nseqene f a maiage f tw hetezygte . ( Tt-Tt)
14 f the hiden ae affeted .
- dminant and intemediate inheitane :-
If bth aees f a pai ae fy expessed in a hetezygte, this ae said t be -dminant . eg. Bd gps enzyme . AB has A & B antigens n Bs ,s the aees A &B ae -dminant . if the hetezygs is diffe fm bth hmzygs , the genes ae said t be shw intemediate inheitane sh as sike e anemia in sike e tait.
Mtipe Aeesim :-
when f a singe s , me than tw atenative aees exist in ppatin, the aees ae aed mtipe aees . eg.: AB gping ,the aees A , A1 , A2 & B ae shaed with many pepe , s they ae mtipe.
X- ink inheitane : -
The genes n Y hmsme ae f handi ( ny in maes ,inheitane that it n thgh maes ny . the maes ae hetezygte whie femaes ae hetezygte hmzygte . the Y – inked inheitane ae extemey imited sh as the hai pinna . the x-inked inheitane may be eessive dminant . patient with x-inked eessive inheitane ae haateized by : -
1- mh highe in maes than femaes
2- the tait pass fm affeted man t a his daghtes & n ne f his sns .
3- it passes fm a seies f aie femae .
eg. :- hemphiia – Dhene msa dystphy
XhY XH XH
X- inked dminant : -
haateized by
1- Affeted maes have n nma daghte and n affeted sn . if thee ae nma daghte & thee ae affeted sn the inheitane shd be Atsma .
2- the affeted hetezygte femae tansmit the disease t haf thei hiden f eithe sex if she may a nma mae .
XH Xh Xh Y