.

: .1
: 1 .
.

:3

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 Aa aa

A/A Aa aa

? = A/A = ? Aa = ? aa

:
.
.
.

.
.
(1
(2
(3
(4
(5

-1-

 :La population et pool gntique

: 2 .3
. .
2

700.000 850.000.
)
( ) (50+
10


.
) (
.
.

3
Macaca sylvanus

10000
.


1200 2000
)
( . 20
15 60.

: .
Macaca sylvanus
) 1200 2000 (.

: .4

: 4 .



.

=
.
=

La population .
.

-2-

 :
.
.
:
:

:
:

.
. 2.2
:
P : AA , Aa , aa .5
:5
P 13.
A :
a .

. :
][A
] = [A
N
= AA

AA

a
A
A

A
a
A

A
a

f(AA) = D , f(Aa) =H , f(aa) = R :

A tirage

:
AA D A 1
) A (.
Aa H A 1/2
) .( a
aa R A ) 0
.( A
) ( A )f(A) = ( D x 1 ) + ( H x 1/2 ) + ( R x 0 ) : f(A
f(A) = D + H/2

-3-

 ) ( a ): f(a

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

:

1

X
N
2

X 2 +
X 2 ) N (

:
f [A] = 10/13
:
f(aa) = R = 3/13

f [a] = 3/13
,

f(Aa) = H = 4/13

f(AA) = D = 6/13

:
(2x6)+4
= 0.62 = )f(A
2 x 13

(2x3)+4
= 0.38 = )f(a
2 x 13

I :Hardy - Weinberg
:

) (...
.H W

6 .
: 6
) (.
.
) (.
=
) Aa 50 %
A 50 % .a
: ) Panmixie
.( Pangamie

Hardy :Weinberg
:
H.W
= Hardy ) . = Weinberg (.

-4-

 :
H.W .7
: 7 Hardy - Weinberg G0
G1 A .a
(1 .G0
(2 .G1
(3 G1 .
(4
) ( G0
: G0

AA

: G0

Aa

f(A) = p = ..
aa

Aa

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

Aa

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

AA

f(Aa) = .....

AA

Aa

AA
AA

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

AA
aa

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

f(A) = ...

= )f(a

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

...

G1

:G1
= )f(A
....

:G1

f(AA) = ...

f(Aa) = .

= )f(a

f(A) + f(a) = .

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

....

....

(1 :G 0
f(Aa) = H , f(aa) = R :

f(AA) = D

D + H + R = 1
:

f(a) = q = R + H/2

f(A) = p = D + H/2

p+q=D+H+R=1

-5-

 (2 :G 1
:
2
f(AA) = p X p = p = D
f(Aa) = ( p q ) + ( p q ) = 2pq = H
f(aa) = q x q = q2 = R
D + H + R = p2 + 2pq + q2
= ( p + q )2 = 1
(3 :G 1
f(A) = f(AA) + f(Aa)/2 = D + H/2
= p2 + (2pq)/2
= p2 + pq
)=p(p+q
( p + q ) = 1 f(A) = p
f(a) = f(aa) + f(Aa)/2 = R + H/2
= q2 + (2pq)/2
= q2 + pq
)=q(p+q
( p + q ) = 1 f(a) = q
(4:

.Hardy-Weinberg
.
.(p+q)2
p A q a
:

f(AA) + f(Aa) + f(aa) = ( p + q )2 = p2 + 2pq + q2

f(AA) = p2 ,
f(Aa) = 2pq
,
f(aa) = q2

: Hardy-Weinberg
p n . . . p 3 , p 2 , p 1
.( p 1 + p 2 + p 3 + . . . + p n )2
ABO A B O
p q .r ( p + q + r )2 = p2 + q2 + r2 + 2pq + 2pr + 2qr

f(AA) = p2
, f(BB) = q2 , f(OO) = r2
f(AB) = 2pq , f(AO) = 2pr , f(BO) = 2qr
-6-

 :H-W
:
8 .(q) a
.p = q = 0.5
.
:8 q H-W
:

1.0

f(AA) = p2 = (1 q)2
)f(Aa) = 2pq = 2q(1 q
f(aa) = q2

AA

aa

0.9
0.8

(q) a .

0.6

Aa

0.5

.p = q = 0.5

.

0.4
0.3

0.7

0.2

= )f(AA) = , f(Aa) = , f(aa

0.1

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

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

0 0.1 0.2 0.3 0.4 0.5 0.6 0.7 0.8 0.9 1.0

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

(q) a

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

.Hardy-Weinberg

II Hardy Weinberg :
2
:( Khi deux )
2
:

)2 (

=
2

) :Degr de libert (ddl

:
= ddl
2 ) ( 9 :

0.05 .5 %
.ddl

-7-

 :9 : 2

0,001

0,01

0,02

0,05

0,10

0,20

0,30

0,50

0,90

10,827
13,815
16,266
18,467
20,515
22,457
24,322
26,125
27,877
29,588
.
.
59,703

6,635
9,210
11,345
13,277
15,086
16,812
18,475
20,090
21,666
23,209
.
.
50,892

5,412
7,824
9,837
11,668
13,388
15,033
16,622
18,168
19,679
21,161
.
.
47,962

3,841
5,991
7,815
9,488
11,070
12,592
14,067
15,507
16,919
18,307
.
.
43,773

2,706
4,605
6,251
7,779
9,236
10,645
12,017
13,362
14,684
15,987
.
.
40,256

1,642
3,219
4,642
5,989
7,289
8,558
9,803
11,030
12,242
13,442
.
.
36,250

1,074
2,408
3,665
4,878
6,064
7,231
8,383
9,524
10,656
11,781
.
.
33,530

0,455
1,386
2,366
3,357
4,351
5,348
6,346
7,344
8,343
9,342
.
.
29,336

0,0158
0,211
0,584
1,064
1,610
2,204
2,833
3,490
4,168
4,865
.
.
20,599

ddl
1
2
3
4
5
6
7
8
9
10
.
.
30

Hardy
weinberg . 2 2
Hardy weinberg .
2

Hardy Weinberg ) : ( 10
: 10 Hardy-Weinberg .
500
.

) ( R ) .( b
Hardy-Weinberg
p2(RR) + 2pq(Rb) + q2(bb) = 1 = p R
= q b . p + q = 1

] [ b

] [ R

bb

RR + Rb

20

480

RR Rb .

(1 :
:bb
f (bb) = f [b] = 20/500 = 0.04
R : b

( p + q )2 p2(RR) + 2pq(Rb) + q2 (bb) = 1
f(RR) = p2 , f(Rb) = 2pq , f(bb) = q2 f(R) = p f(b) = q

-8-

 q ( f(bb) = f [b] = q2 = 0.04 ) q2

f(b) = q = 0.04 = 0.2

q = 0.2
: p p + q = 1 p = 1 q = 1 0.2 = 0.8
p = 0.8
R b :

f(R) = 0.8 , f(b) = 0.2

:RR
p q :
:RR

f(RR) = p2 = (0.8)2 = 0.64

:Rb

f(Rb) = 2pq = (2 x 0.8 x 0.2) = 0.32

RR :Rb

= )f(RR

) = RR f(RR) x ( N

RR 320 = 0.64 x 500 = f(RR) x N

Rb 160 = 0.32 x 500 = f(Rb) x N
bb 20 = 0.04 x 500 = f(bb) x N
(2 :
R b .
:
R
b
q = 0.2

Rb
Pq = 0.16

p = 0.8

RR
2

p = 0.64

bb

Rb

q2 = 0.04

Pq = 0.16

R
p = 0.8

b
q = 0.2

f(RR) = p2 = 0.64 :
f(Rb) = 2pq = 2 x 0.16 = 0.32
f(bb) = q2 = 0.04
) H-
.( W

-9-

 IV Hardy Weinberg :
:
.
a : ) (11

(Rh) Rhsus d .D D
: 11
] [ Rh+ d dd ] .[ Rh-
1976 400 230 ] .[ Rh+
Hardy -Weinberg .

f(d) = q

f(dd) = q

= 0.35

DD

Dd
dd

] [ Rh+
:

(400-230)/400

0.122
0.455

0.423

1-q
2

)(0.35

2 x 0.65 x 0.35
2

)(0.65

= f(d) = q

=
=

= 2pq
=

= )f(D
= )f(DD
= )f(Dd
= )f(dd

(f(Dd)/(f(Dd) + f(DD)))x100 = (0.455/(0.455+0.122))x100 = 78.86

b : ) Mucoviscidose ( 12
:12 Mucoviscidose
3000
La mucoviscidose m .
(1 . ) . m+ (
(2 .
(3 .

(1 m+m+ m+m
: .
(2 ):f(mm
q m p .m+
f(mm) = f(m) = q2
p + q = 1

1
= 3.3 10- 4 = )f(mm
3000

q ) :q )( f(mm

3.3

10- 4 = 0.018
P = 1 q = 1 0.018 = 0.982
=q

(3 ) f(m+m 2pq:
f(m+m) = 2 x (0.982 x 0.018) = 0.035

- 10 -

 ) . ( 13
:13 MN
MN M .N
730 .[ N ] 492 + [ M ] 22 + [ MN ] 216 :
(1 .
(2 M .N
Hardy Weinberg
(3 .
(4 .Hardy Weinberg
(5 ) .( 2
. ] [NN ][BB
] [NB ) (B ).(N
10000 3000 ] [NN 1000 ] [NB 6000 ].[BB
.

(1 :

f(MM) = 0.67

NN
492

= )D = f(NN
=
= 0.67

730

f(NN) = 0.03

MM
22
= 0.03 = = )R = f(MM

730

f(MN) = 0.30

MN
216
= 0.30 = = )H = f(MN

730

(2 M : N

f(N) = p = 0.18
f(M) = q = 0.82

0.30
H
= 0.18 = 0.03 +
2
2
0.30
H
= 0.82 = 0.67 +
2
2

f(N) = D +
f(M) = R +

p + q = 0.18 + 0.82 = 1
(3 ) (
.( p2 + 2pq + q2 ) Hardy - Weinberg
NN p2 ( 0.18 )2 0.032

f(NN) = 0.032

MM q2 ( 0.82 )2 0.673

f(MM) = 0.673

MN 2pq ) (2x0.18 x0.82 f(MN) = 0.295 0.295

- 11 -

 (4 :
:
NN 24 = 0.032 X 730 = p2 x N
MN 215 = 0.295 X 730 = 2pq x N
MM 491 = 0.673 X 730 = q2 x N
(5 :
: 2
3 NN MN MM 2 :
= (ENNo ENNt )2/ENNt +(EMMo EMMt )2/EMMt +(EMNo EMNt )2/EMNt

= Eo Et
( 22 24 )2
( 492 491 )2
( 216 215 )2
+ + =
24
491
215
2

= 0.023 + 0.166 + 0.0046 = 0.173

: ddl
= ddl
=32
=1

0.05 5 %

2 2 4 3.84
= 3.84 2
= 0.05 2

<

.Hardy-Weinberg
2

:
Hardy-Weinberg

Hardy-Weinberg
.

- 12 -

 : ) ( 13
f(B) = p ((6000 + 1000)/2)/10000 = 0.65
f(N) = q ((3000 + 1000)/2)/10000 = 0.35
:Hardy-Weinberg
F(BB) = p2 = (0.65)2 = 0.4225
F(NB) = 2pq = 2 x 0.35 x 0.65 = 0.455
F(NN) = q2 = (0.35)2 = 0.1225
:
]: [NN
]: [NB
]: [BB

[NN] = 0.4225 x 10000 = 4225

[NB] = 0.4550 x 10000 = 4550
[BB] = 0.1225 x 10000 = 1225

2 = ((Ho Et)2 / Et

= Eo .
= Et .


) (

][NN
3000
4225

][NB
1000
4550

][BB
6000
1225

)2 = ((3000 4225)2/4225)+ ((1000 4550)2/4550)+ ((6000 1225)2/1225

2 = 6087.42
ddl ).(3-2=1
= 0.05 ) ( 3.84
) .( 6087.42
. .Hardy-Weinberg
.
2

- 13 -

 :
.
:


102
55
44
3


: ) (B ) .(R
.
: 2 .
:
f(B) = p = (55+(44/2)) / 102 = 0.755
:
f(R) = q = (3+(44/2)) / 102 = 0.245
/ H-W
f(BB) = p2 = (0.755)2 = 0.57 = 58/102
f(RB) = 2pq = (2 x 0.245 x 0.755 ) = 0.37 = 38/102
f(RR) = q2 = (0.245)2 = 0.06 = 6/102
) (:
][RR
][RB
][BB

3
44
55

6
38
58

2
2
2
2
= ((55-58) /58) + ((44-38) /38) + ((3-6) /6) : 2
2 = 2.6
ddl = 3 2 = 1 = 0.05 2 .3.84
2 2 .
. .

: ) . ( 14
: 14 X

X : w
. S .
) ( .
) Panmixie (
S w p q . G0
(1 .
(2 .G1 Hardy Weinberg
.
(3 H W .
(4 Hardy Weinberg . .

- 14 -

 (1 :
:

X
X

X
Y

X
X

S
S

X
Y

X
X

w
w

w
w

(2 : G 1
) (
p+q=1

f( S ) = p

f( w ) = q

:
Y
X
Y

q
S

X
X
X

pq
X
Y

w
q2

X
X

w
p
S
w

p2

X
X
X

X
X

pq

S
S
S

S
w

: G 1
:
:

f(Xw Xw ) = q2 , f(X S Xw ) = 2pq , f(X S X S ) = p2

, f(X S Y) = p
f(X w Y) = q

(3 Hardy Weinberg
.

- 15 -

 (4 H-W
A) .f(X a X a ) = q2 , f(X A X a ) = 2pq , f(X A X A ) = p2 a ( .
.
(5 .
) . (

q2

p2+2pq

p +2pq

q2

q > q2

p2 +2pq>p

) . ( 15
: 15
.X d
. .q = 0.1
(1 .
) Alport( .X .p = 0.087
(2 .

(1 :
f(Xd,Xd) = q2 = (0.1)2 = 0.01 :
f(Xd,Y) = q = 0.1 :
1 % 10 %

.
(2 :
: X
) ( X A X A ) : ( X A X n

f(X A X A ) = p2

f(X A X n ) = 2pq

p2 + 2pq
q = 1 p = 1 0.087 = 0.913 p + q = 1
(0.087)2 + 2(0.087 x 0.913) = 0.166 :
16.6 %

- 16 -

 : . X A

f(X A Y) = p = 1 / 104 = 0.087

8.70 %

16.6 % 8.7 %

.
: ) . ( 16
: 16
.X :
Cn .

Cj .
:



(1 .

(2 .
50
0
300

(3 Cn Cj .
10
50
300

(4 Cn .
(5 .

(1 :

X
Y

Cn

Cn

Cn

Cj

Cj

X
X

Cn

X
X

Cj

X
Y

X
X

Cj

(2 Cn Cj
x .
(3 1 :
) ( Cn :q

q = ((300x2)+50+300)/(360x2)+350 =0.887

) ( Cj : p

p = 1 q = 1 0.887 = 0.113

(4 Cn ] [Cn ][Cn,Cj
] [Cn .Cn
Cn ((300x2)+50))/(360x2) = 0.90 :
Cn 300/350 = 0.86 :

- 17 -

 (5
Cn .
Cn 0.9 0.86
0.90 x 0.86 x 100 = 77.4 %

V :
:
.
) .(17
T3 T2 .
: 17

)(

T3
T2

T2
T3

: .
.Leucisme

.
:
ADN
.

) .( Mutation gntique
.
:
a :

. .18

- 18 -

 : 18

c
b
a
c
b
a

c
b
a

c
b
a

c
b
a

a
b
c

:
.Aneuplodie
.Polyplodie
.Monoplodie
:
) (.
.
.
.
b ) ( Ponctuelle ) : ( 19
: 19

) ( globuline .HbA
.

globuline

)

.
(1 globuline .
(2 .
(3 .

- 19 -

 CAC CTG ACT CCT GAG GAG AAG TCT GCC GTT ACT GCC CTG TGG GGC AAG GTG HbA
His Leu Thr Pro Glu Glu Lys Ser Ala Val Thr Ala Leu Thp Gly Lys Val HbA
CAT CTG ACT CCT GAG GAG AAG TCT GCC GTT ACT GCC CTG TGG GGC AAG GTG Hba1
HbA

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

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

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

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

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

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

His Leu Thr Pro Glu Glu Lys Ser Ala Val Thr Ala Leu
-A

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

His Leu Thr Pro Glu Arg Ser Leu Pro Leu Leu Pro Cys Gly Ala Arg
+C

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

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

(1 globuline
.
. .
(2 :

Hba 1

) C ( T

Silencieuse

HbS

A : 14 T

Faux sens

HbC

G : 13 A

Faux sens

Tha 2

G : 41 A

Tha 3

( A ) 14

Tha 4

( C ) 22

Non sens

Frame shift

Frame shift

(3
.

- 20 -

 . .20
: 20 .

.


. .

-9
2.5 . 10

-8
2 . 10
Escherichia Coli
-4
2.9 . 10

2.6 . 10-5

A
a

a
A

a
a

A
A

a
a

a
a

a
A a

A
a

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

A
a

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

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

.
.La slection naturelle
. 21
: 21

.
) (

Hardy weinberg
.
: 1
). (
: 2 .
) (

- 21 -

 :

. .
. 22
: 22
Biston betularia .
.
.
1955 Kettlewell :
Birmingham ) Mlanisme
( industrielle Dorset .
. :
(1
(2 .

474

496

154

64

30

62

82

16

%
6.3

%
%
53.2 12.5

%
25

(1
. .
(2 :
23
23

.

.

- 22 -


.
.
. 24
: 24
: .C
. c
Manchester 100.
.
1,00

0,90
0,80
0,70

0,60
0,50

- - - - - c

0,40
0,30
0,20
0,10
1948

1928

1908

1888

1868

0,00
1848

c
.1948 C
.( p = 1 ) 1

.
.
. 25
: 25
) (Valeur slective
. :
:
.
:
G1
=
G0

: 1 .
.

- 23 -

64

16

154

82

.
. 26
:26

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

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

:Drive gntique

. 27

:27
Steinberg Les Huttrites
Secte 1880
Docota Montana .
. Steinberg

(1 .
A
O

Les
Huttrites
Steinberg

45 %
29 %
.

% - 30 %

40 %
.
40

- 24 -

(2
(3
(4

.
.
. Les Huttrites
=][A

= ]f[A

=][a

f[A] = ...

...

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

= ]f[a
..

= ]f[A
1

= ]f[a

= ]f[A
= ]f[A

= ]f[a

...

= ]f[a
f[a] = ...

..

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

(1 A O
O
A.
Les huttrites )
(.
(2 .
(3 1 )(
Echantillonnage alatoire
.
.
(4 Les huttrites .

.

- 25 -

 . .28
:28


.
(1

(2

(3
.

0.8
0.6

0.4

15 a

0.2
0
10

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

.
.

.

:La migration
.Unidirectionnelle 29
:29
) ( Mtis
. .
Gauss Li 1953 Ro
) ( Rhsus . .
(1 .

.
(2 m A a
.
(3
(4

- 26 -


: m

) m = n / ( N + n
= N = n
.
m
p1=(1-m)p0+mpm
: pm . p0
.

Ro

)
(
1953
.

18

0.63
0.446
0.028

) N (

G0
f(A) = p0 = 0.4 :
f(a) = q0 = 0.6

aa

Aa

Aa

:
= f(A) = pm
0.7
= f(a) = qm
0.3

AA Aa
aa

aa

AA Aa aa
AA
aa

AA

Aa

Aa AA Aa
AA
AA
AA

AA aa

G
Aa
1
aa Aa
:
Aa
AA
f(A) = p1 = ...
Aa AA
f(a) = q1 = ...
aa

Aa

AA
Aa
AA

AA AA

AA AA
Aa AA

AA

Aa

aa

AA

Aa
Aa

aa
Aa aa
AA
AA
Aa
AA

(1 R 0
.
.

.
(2 :m

n
4
= 0.28 = = m
)(N+n
) ( 4 + 10

A f(A) = p 1
f(A) = p 1 = ( 1 m ) p 0 + mp m
) = ( 1 0.28 ) x 0.4 + ( 0.28 x 0.7
= 0.484
f(A) = p1 = 0.48

- 27 -

 a f(a) = q 1 :
f(a) = q 1 = ( 1 m ) q 0 + mq m
) = ( 1 0.28 ) x 0.6 + ( 0.28 x 0.3
= 0.516
f(a) = q1 = 0.52

p1 + q1 = 0.48 + 0.52 = 1
(3 A .
.
(4 .
.
.
.Multidirectionnelle .30
: 30

" "


.
""
A

.
"" .

" "

""

1
2
5
3

40

30

20

1.0
0.8

0.4

0.2

10

0.6

A f(A) = 1
f(A) = 0.5 .f(A) = 0


) .( f(A) = 0.5

.

VI

L'espce

a Morphologiques , Comportemental :

: 1 :
. .
: 2 .

- 28 -

 : 3
. .31
31
La grive " " Catharus
)( . .
.

Catharus
fuscescens

Catharus
minimus

Catharus
guttatus

Catharus
ustulatus

.
b ) ( Ecologique :

.
c Morphologique : 32

CO2

.

: 32
CO2

) Emberiza ( .

Emberiza
hortulana

Emberiza
citrinella

) ( C
CO2

(mg/mg)/h

- 29 -

Eberiza
hortulata
Emberiza
citrinella

-5

05

15

25

11

10.5

09

07

05

08

07.5

07

4.5 06

 d Biochimique Et gntique :

33

:33
Salamandre
.

.
.
.

.

.

.

: a

: b

Lactose
dshydrogenase

Triton
alpestris

Triton
Triton
marmovulgaris
ratus

(0.2) a3
(0.8) a4

(1) a2

(1) a6

(0.1) b1
(0.55) b3

(1)b7

(1) b1

(0.35) b4

e La fcondit :

.
:

.
:
. .

- 30 -