- 1 - :

:

.1 :

:

. . .

.

.

)1 )2 )3 )4 )5

. : 1 .

:3

? = aa ? = aA ? = A/A

aa AA aa AA aa aA aA aA aa aA aA aA aA aA aA aA aA aA aA aa aA aA

aa AA aa AA aa aA aA aA aa aA aA aA aA aA aA aA aA aA aA aa aA aA

X

aa aA A/A

X

aA

aA

- 2 - :

:euqitng loop te noitalupop aL .3 2 :

. :

sunavlys acacaM .) 0002 0021 (

.4 :

. noitalupop aL .

. .

. 000.058 000.007 (

)05( + ) 01

. ) (

. .

2 sunavlys acacaM

00001

.

0002 0021

( 02 . )

. 06 51

3

. : 4

= .

=

.

- 3 - :

:

. .

:

: :

.

. 2 2 .

: .5 : aa , aA , AA P

:

:

R = )aa(f , H= )aA(f , D = )AA(f : egarit A

:

1 A D AA . ) A ( 1/2 A H aA ). a ( ( 0 A R aa ). A

) 0 x R ( + ) 2/1 x H ( + ) 1 x D ( = )A(f: )A(f ) A ( 2/H + D = )A(f

A A

a A

a A

a A a A

a a

a a

A A

A A

A A

a a

A A

A A

P

. 31 P

A: . a

: .

: 5

= ]A[ ]A[

N

= AA AA

N

- 4 - :

: 31/3 = ]a[ f 31/01 = ]A[ f

: 31/3 = R = )aa(f , 31/4 = H = )aA(f , 31/6 = D = )AA(f

:

: grebnieW - ydraH I :

)... ( . W H

. 6

: grebnieW ydraH

: W.H

. ) = grebnieW = ydraH (.

= )A(f 4 + ) 6 x 2 (

31 x 2 = )a(f 26.0 =

4 + ) 3 x 2 (

31 x 2 83.0 =

) 1 x R ( + ) 2/1 x H ( + ) 0 x D ( = )a(f : )a(f ) a ( 2/H + R = )a(f

:

=

1

2

N

X

N

+

+ X 2

) ( N X 2

=

.) ( . .) ( = 05 % aA (

.a 05 % A ( eiximnaP :

).eimagnaP

: 6

- 5 - :

: . 7 W.H

:0G )1 : R = )aa(f , H = )aA(f , D = )AA(f

1 = R + H + D

2/H + R = q = )a(f , 2/H + D = p = )A(f :

1 = R + H + D = q + p

0G . a A 1G

.0G )1 .1G )2 . 1G )3 )4

grebnieW - ydraH : 7

: 1G

= )A(f ....

= )a(f .

. = )a(f + )A(f ....

....

: 1G

... = )AA(f

. = )aA(f

.... = )aa(f

= )aa(f + )aA(f + )AA(f .....

:0G

.. = p = )A(f

.. = q = )a(f

.. = q + p

:0G

............. = )AA(f

..... = )aA(f

. = )aa(f

= )aa(f + )aA(f + )AA(f

. =

:

... = )A(f

= )a(f

= )a(f + )A(f ...

:

... = )A(f

= )a(f

= )a(f + )A(f ...

AA

aA

aA

AA AA

aa

aA

AA

aA

AA

aa AA

) 0G (

A

A

a

a

q p

p

q

1G

- 6 - :

:1G )2:

p = p X p = )AA(f2 D =

H = qp2 = ) q p ( + ) q p ( = )aA(f q = q x q = )aa(f

2 R =

p = R + H + D2q + qp2 +

2

) q + p ( =2 1 =

:1G )3

2/H + D = 2/)aA(f + )AA(f = )A(fp =

2 2/)qp2( +

p =2 qp +

) q + p ( p = p = )A(f 1 = ) q + p (

2/H + R = 2/)aA(f + )aa(f = )a(f

q =2 2/)qp2( +

q =2 qp +

) q + p ( q = q = )a(f 1 = ) q + p (

: )4

. grebnieW-ydraH

.

. 2)q+p( a q A p

:

) q + p ( = )aa(f + )aA(f + )AA(f2p =

2q + qp2 +

2

2q = )aa(f , qp2 = )aA(f , 2p = )AA(f

grebnieW-ydraH : 1p , 2p , 3p . . . np

) np + . . . + 3p + 2p + 2 .1p (

O B A OBA rq2 + rp2 + qp2 + 2r + 2q + 2p = 2) r + q + p ( . r q p

2r = )OO(f , 2q = )BB(f , 2p = )AA(f rq2 = )OB(f , rp2 = )OA(f , qp2 = )BA(f

- 7 - :

: W-H

: . )q( a 8

. 5.0 = q = p .

: 4/1 = )AA(f , 2/1 = )aA(f , 4/1 = )aa(f:

.grebnieW-ydraH

: grebnieW ydraH II: )xued ihK ( 2

2 :

: 2

:) ldd( trebil ed rgeD :

ldd =

: ) 9 ( 2

.5% 50.0 . ldd

) ( 2

2 =

)q( a

0

1.0

2.0

3.0

4.0

5.0

6.0

7.0

8.0

9.0

0.1

0.1 9.0 8.0 7.0 6.0 5.0 4.0 3.0 2.0 1.0 0

aA

AA aa

2)q 1( = 2p = )AA(f: )q 1(q2 = qp2 = )aA(f 2q = )aa(f

. )q( a

. 5.0 = q = p

.

= )aa(f , = )aA(f , = )AA(f

: ..............................................................................................................................................................

..............................................................................................................................................................

..............................................................................................................................................................

W-H q : 8

- 8 - :

ydraH 2 2 2 2 . grebniew

. grebniew ydraH

) 01 ( : grebnieW ydraH

: )1 : bb

40.0 = 005/02 = ]b[ f = )bb( f : b R

1 = )bb( 2q + )bR(qp2 + )RR(2p 2) q + p (

p = )RR(f

2q = )bb(f , qp2 = )bR(f ,

q = )b(f p = )R(f 2

09,0

05,0

03,0

02,0

01,0

50,0

20,0

10,0

100,0

ldd

728,01 536,6 214,5 148,3 607,2 246,1 470,1 554,0 8510,0 1

518,31 012,9 428,7 199,5 506,4 912,3 804,2 683,1 112,0 2

662,61 543,11 738,9 518,7 152,6 246,4 566,3 663,2 485,0 3

764,81 772,31 866,11 884,9 977,7 989,5 878,4 753,3 460,1 4

515,02 680,51 883,31 070,11 632,9 982,7 460,6 153,4 016,1 5

754,22 218,61 330,51 295,21 546,01 855,8 132,7 843,5 402,2 6

223,42 574,81 226,61 760,41 710,21 308,9 383,8 643,6 338,2 7

521,62 090,02 861,81 705,51 263,31 030,11 425,9 443,7 094,3 8

778,72 666,12 976,91 919,61 486,41 242,21 656,01 343,8 861,4 9

885,92 902,32 161,12 703,81 789,51 244,31 187,11 243,9 568,4 01

.

. 03

.

. 995,02

.

. 633,92

.

. 035,33

.

. 052,63

.

. 652,04

.

. 377,34

.

. 269,74

.

. 298,05

.

. 307,95

: 2 : 9

005 .

. ) b ( ) R (

grebnieW-ydraH

R = p 1 = )bb(2q + )bR(qp2 + )RR(2p

. 1 = q + p b = q

. bR RR

. grebnieW-ydraH : 01

] b [

] R [

bR + RR bb

084 02

- 9 - :

) 40.0 = 2q = ]b[ f = )bb(f ( 2q q

8.0 = 2.0 1 = q 1 = p 1 = q + p : p

2.0 = )b(f , 8.0 = )R(f: b R : RR

: q p

46.0 = 2)8.0( = 2p = )RR(f: RR

23.0 = )2.0 x 8.0 x 2( = qp2 = )bR(f :bR : bR RR

023 = 46.0 x 005 = N x )RR(f RR 061 = 23.0 x 005 = )bR(f x N bR 02 = 40.0 x 005 = )bb(f x N bb

: )2

. b R :

= q = )b(f

2.0 = : 40.0

2.0 = q

8.0 = p

= )RR(f

x )RR(f ) N ( = RR

b R

R

b

bR RR

bb bR

61.0 = qP 46.0 = 2p

61.0 = qP 40.0 = 2q 2.0 = q

2.0 = q 8.0 = p

8.0 = p

46.0 = 2p = )RR(f: 23.0 = 61.0 x 2 = qp2 = )bR(fq = )bb(f

2 40.0 =

-H ( ). W

- 01 - :

: grebnieW ydraH VI :

. ) 11 ( : a

) 21 ( esodicsivocuM : b

m+m +m+m )1

. : : )mm(f )2

. +m p m q 2q = )m(f = )mm(f 1 = q + p

) )mm(f q: ( q

289.0 = 810.0 1 = q 1 = P

: qp2 )m+m(f )3

530.0 = )810.0 x 289.0( x 2 = )m+m(f

1

0003 = )mm(f =4 -01 3.3

= q

810.0 = 4 -01 3.3

D . D d )hR( sushR : 11 . ] -hR [ dd d ] +hR [

. ] +hR [ 032 004 6791 . grebnieW- ydraH

q = )d(f d

q = )dd(f

2 004/)032-004( = q = )d(f

53.0 = q - 1 = p = )D(f D

p = )DD(f DD2)53.0( =

2 221.0 =

554.0 = 53.0 x 56.0 x 2 = qp2 = )dD(f dD

q = )dd(f dd2)56.0( =

2 324.0 =

] +hR [ :

68.87 = 001x))221.0+554.0(/554.0( = 001x)))DD(f + )dD(f(/)dD(f(

0003 . m esodicsivocum aL

) +m (. . )1 . )2. )3

esodicsivocuM : 21

- 11 - :

) 31 (.

: )1

:N M )2

) ( )3

.) 2q + qp2 + 2p ( grebnieW - ydraH 230.0 = )NN(f 230.0 ) 81.0( 2 2p NN

376.0 = )MM(f 376.0 ) 28.0( 2 2q MM

592.0 = )NM(f 592.0 )28.0x 81.0x2( qp2 NM

NN = )NN(f = D

=

294

037 76.0 = )MM(f 76.0 =

MM = )MM(f = R

=

22

037 30.0 = )NN(f 30.0 =

NM = )NM(f = H

=

612

037 03.0 = )NM(f 03.0 =

1 = 28.0 + 81.0 = q + p

+ 30.0 81.0 = p = )N(f =

03.0

2 = )N(f = 81.0

H

2 = + D

+ 76.0 28.0 = q = )M(f =

03.0

2 = )M(f = 28.0

H

2 = + R

. N M NM . 612 ] NM [ + 22 ] M [ + 294 ] N [: 037

. )1 .N M )2

grebnieW ydraH . )3 .grebnieW ydraH )4 . )2 ( )5

]BB[ ]NN[ .

. )N( )B( ]BN[ . ]BB[ 0006 ]BN[ 0001 ]NN[ 0003 00001

.

NM : 31

- 21 - :

: )4

:

42 = 230.0037 X = N x 2p NN 512 = 592.0037 X = N x qp2 NM 194 = 376.0037 X = N x 2q MM

: )5

:2

: 2 MM NM NN 3

tE = oE

: ldd ldd=

= 3 2 = 1

5% 50.0

48.3 4 2 2

2

.grebnieW-ydraH

:

grebnieW-ydraH

grebnieW-ydraH .

tNME/2) tNME oNME(+ tMME/2) tMME oMME(+ tNNE/2) tNNE oNNE( = 2

= 2 2) 42 22 (

42 +

2) 194 294 (

194

2) 512 612 (

512 +

371.0 = 6400.0 + 661.0 + 320.0 =

2 = 48.3

2 = 50.0 2

2 >

- 31 - :

) 31 ( :

56.0 = 00001/)2/)0001 + 0006(( p = )B(f

53.0 = 00001/)2/)0001 + 0003(( q = )N(f

: grebnieW-ydraH

p = )BB(F 2)56.0( =

2 5224.0 =

554.0 = 56.0 x 53.0 x 2 = qp2 = )BN(F

q = )NN(F 2)53.0( =

2 5221.0 =

:

5224 = 00001 x 5224.0 = ]NN[: ]NN[ 0554 = 00001 x 0554.0 = ]BN[: ]BN[ 5221 = 00001 x 5221.0 = ]BB[: ]BB[

2 tE / 2)tE oH(( = 2

. = oE . = tE

]BB[ ]BN[ ]NN[ 0006 0001 0003 5221 0554 5224 ) (

)5221/2)5221 0006(( +)0554/2)0554 0001(( +)5224/2)5224 0003(( = 2

24.7806 = 2

). 3-2=1( ldd

2 ) 48.3 ( 2 50.0 = 2

. ) 24.7806 ( . grebnieW-ydraH .

.

- 41 - :

: ) 41 (. :

: .

:

201 55 44 3

. )R( )B( : .

. 2 : :

557.0 = 201 / ))2/44(+55( = p = )B(f: 542.0 = 201 / ))2/44(+3( = q = )R(f

W-H / p = )BB(f

2)557.0( =

2 201/85 = 75.0 =

201/83 = 73.0 = ) 557.0 x 542.0 x 2( = qp2 = )BR(fq = )RR(f

2)542.0( =

2 201/6 = 60.0 =

:) ( ]RR[ ]BR[ ]BB[

3 44 55 6 83 85

2 )85/2)85-55(( = )6/2)6-3(( + )83/2)83-44(( + : 2 2 6.2 =

.48.3 2 50.0 = 1 = 2 3 = ldd

. 2 2 . .

w : X . S .

. ) ( ) ( eiximnaP

. 0G q p w S . )1 grebnieW ydraH . 1G )2

. . W H )3. . grebnieW ydraH )4

X : 41

- 51 - :

: )1 :

:

:

:

:1G )2

) (

1 = q + p , p = ) S (f , q = ) w (f

:

:1G

q = )wXwX(f: 2p = )SXSX(f , qp2 = )wXSX(f ,

2

p = )YSX(f , q = )YwX(f :

grebnieW ydraH )3 .

X S

X S

X

S

X w

X w

X w

X w

Y X

S

Y

X S

X w

X S

X w

Y

X w

p

X S

X S

X w

Y

X S

X w

X S

X S

X S

X w

X w

X w

X S

Y

X w

Y

q

p

q

p 2

q 2

qp

qp

p

q

- 61 - :

W-H )4q = )aXaX(f

2p = )AXAX(f , qp2 = )aXAX(f ,

. ) a A(. 2 .

. )5

) (.

) 51 (.

: )1

10.0 = 2)1.0( = 2q = )dX,dX(f:

1.0 = q = )Y,dX(f: 01% 1%

.

: )2

X : : nXAX ( ( AXAX ( (

p = )AXAX(f 2 )nXAX(f qp2 =

qp2 + 2p

319.0 = 780.0 1 = p 1 = q 1 = q + p

( 780.0= )319.0 x 780.0(2 + 2) 661.0: 6.61 %

q > q 2

q qp2+2p

2 q p

p 2 p>qp2+

q

2p

2qp2+

p q

d . X . 1.0 = q . . )1

. 780.0 = p . X )( troplA

. )2

: 51

- 71 - :

. AX :

780.0 = 401 / 1 = p = )YAX(f 07.8%

7.8% 6.61%

.

) 61 (. :

: )1

jC nC )2 . x

: 1 )3

788.0= 053+)2x063(/)003+05+)2x003(( = q: q ) nC (

311.0 = 788.0 1 = q 1 = p : p ) jC ( ]jC,nC[ ]nC[ nC )4

. nC ]nC[

) 09.0 = )2x063(/))05+)2x003(: nC 68.0 = 053/003: nC

X jC

X jC

X nC

X nC

X nC

X jC

X nC

Y X

jC

Y

: . X . nC . jC

: . )1 . )2 . jC nC )3 . nC )4 . )5

05 0 003 01 05 003

: 61

- 81 - :

)5 . nC

68.0 9.0 nC % 4.77 = 001 x 68.0 x 09.0

: V :

.

. )71 ( . 2T 3T

. :

. emsicueL

.

:

NDA .

. ) euqitng noitatuM (

. :

: a

. 81 .

: 71

3T

2T

)(

3T

2T

- 91 - :

:

. eidolpuenA . eidolpyloP . eidolponoM

:

. ) ( . . .

) 91 ( ) elleutcnoP (: b

a b

c

c b

a

a b

c a b

c

a b

c

a b

c

a

: 81

. AbH ) enilubolg ( .

enilubolg ) ( .

. enilubolg )1 . )2. )3

: 91

: - 20 -

1) globuline .

. .

2) :

Hba1 ( C T ) Silencieuse

HbS 14 :A T Faux sens

HbC 13 : G A Faux sens

Tha2 41 : G A Non sens

Tha3 14 ( A ) :

Frame shift

Tha4 22 ( C ) Frame shift

3) .

Hba1 GTG AAG GGC TGG CTG GCC ACT GTT GCC TCT AAG GAG GAG CCT ACT CTG CAT

HbA Val Lys Gly Thp Leu Ala Thr Val Ala Ser Lys Glu Glu Pro Thr Leu His

HbA GTG AAG GGC TGG CTG GCC ACT GTT GCC TCT AAG GAG GAG CCT ACT CTG CAC

HbA Val Lys Gly Thp Leu Ala Thr Val Ala Ser Lys Glu Glu Pro Thr Leu His

HbS GTG AAG GGC TGG CTG GCC ACT GTT GCC TCT AAG GAG GTG CCT ACT CTG CAC

HbS Val Lys Gly Thp Leu Ala Thr Val Ala Ser Lys Glu Val Pro Thr Leu His

HbC GTG AAG GGC TGG CTG GCC ACT GTT GCC TCT AAG GAG AAG CCT ACT CTG CAC

HbC Val Lys Gly Thp Leu Ala Thr Val Ala Ser Lys Glu Lys Pro Thr Leu His

Tha2 GTG AAG GGC TAG CTG GCC ACT GTT GCC TCT AAG GAG GAG CCT ACT CTG CAT

Tha2 Leu Ala Thr Val Ala Ser Lys Glu Glu Pro Thr Leu His

Tha4 GGT CAA GGG GTG CCT TGC TAC CGT TGC CTC AAG GAG GAG CCT ACT CTG CAC

Tha4 Gly Gln Gly Val Pro Cys Tyr Arg Cys Lru Lys Glu Glu Pro Thr Leu His

+ C

Tha3 TGA AGG GCA GGG TGT CCC CTG TTA CCG CTG AGT AGA GGG CCT ACT CTG CAC

Tha3 Arg Ala Gly Cys Pro Leu Leu Pro Leu Ser Arg Glu Pro Thr Leu His

- A

- 12 - :

. 02 .

.

a A ).A a a A (.A a

.

. ellerutan noitcels aL 12 .

grebniew ydraH .

: 1 ) (.

. : 2 ) (

.

. .

9-01 . 5.2

8-01 . 2 iloC aihcirehcsE

4-01 . 9.2

5-01 . 6.2

a a

a A a a

a A a A

A A A A

a a

a A

a A

a a

a a A A

a A a A

A A A A

a a

a A

a A

. : 02

a

... = p = )A(f .. = p = )A(f ... = q = )a(f .. = q = )a(f

-

.

) (

: 12

- 22 - :

:

. .

22 .

)1. .

: )2 32

.

.

. airaluteb notsiB .

. : lleweltteK 5591

emsinalM ( mahgnimriB . tesroD ) elleirtsudni

: . )1. )2

46 451 694 474

61 28 26 03

% 3.6

% 5.21

% 2.35

% 52

: 22

32

- 32 - :

.

.

42 .

c C . 8491

. ) 1 = p ( 1

.

.

52 .

. C : .c

. 001 retsehcnaM .

: 42

00,0

01,0

02,0

03,0

04,0

05,0

06,0

07,0

08,0

09,0

00,1

8491 8291 8091 8881 8681 8481

C

- - - - - c

)evitcels ruelaV( : .

: .

:

. 1 : .

: 52

1G

0G =

- 42 - :

.

62 .

.

:euqitng evirD 72 .

:

61 46

28 451

.

:62

..........................

..........................

.................................

..........................

..........................

.................................

..........................

..........................

.................................

setirttuH seL grebnietS 0881 etceS . anatnoM atocoD

. grebnietS

. )1 setirttuH seL grebnietS

.

.

O A

92 % 54 %

% - 03 %

04 04 %

:72

- 52 - :

O A )1 O

. A ( setirttuh seL

. )

. )2

)( 1 )3 eriotala egannollitnahcE

. .

. setirttuh seL )4

.

. )2 . )3 . setirttuH seL )4

1

2

= ]A[f

...

= ]a[f

..

= ]A[f

= ]a[f

= ]A[f

...

= ]a[f

..

= ]A[f

= ]a[f

... = ]A[f

....................

... = ]a[f

....................

= ] A [ = ] a [

- 62 - :

. 82 .

)1

1 0 a )2 : .

. 3 : ) 0 = q ( a . 1 : ) 1 = q ( a

. )3

.

.

.

:noitargim aL

92 . ellennoitceridinU

a

a

a

0

2.0

4.0

6.0

8.0

1

51 01 5 0

3

2

1

.

)1 )2

.

)3 .

: 82

) sitM ( . .

oR 3591 iL ssuaG . . ) sushR (

. )1

. a A m )2

. )3 )4

: 92

- 72 - :

0R )1 .

.

.

:m )2

1p = )A(f A

mpm + 0p ) m 1 ( = 1p = )A(f ) 7.0 x 82.0 ( + 4.0 x ) 82.0 1 ( =

484.0 =

= m 4 n

) 01 + 4 ( ) n + N ( 82.0 = =

84.0 = 1p = )A(f

oR

( )

36.0

3591 .

644.0

81 820.0

: m

) n + N ( / n = m = n = N

. m

mpm+0p)m-1(=1p 0p . : mp

.

0G 4.0 = 0p = )A(f:

6.0 = 0q = )a(f

1G :

... = 1p = )A(f

... = 1q = )a(f

:

= mp = )A(f 7.0

= mq = )a(f

3.0

aA

AA aa aa

AA

aa

AA AA

aA aA

aa

aA

AA

aA

AA

AA

AA

aA

AA AA AA

AA AA

AA aA

aA

AA

aA

AA

aa

AA

aa

AA

aa

aA

aA

aA

aA

aA

AA AA

AA aA

n

aA

aA

AA aa

aa AA

aa aa

aA

aA

) N(

- 82 - :

1q = )a(f: a mqm + 0q ) m 1 ( = 1q = )a(f

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. A )3 .

. )4 .

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1 = )A(f A . 0 = )A(f 5.0 = )A(f

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1 = 25.0 + 84.0 = 1q + 1p

25.0 = 1q = )a(f

- 92 - :

: 3 .13 .

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