Solutions Igenetics Abridged Edition

8/10/2019 Solutions Igenetics Abridged Edition

1/101

2

2.1 . R

r

. -

RRrrRr. F1

.

. F2

F1. RrRr 3/4

R : 1/4rr. 3/4 F2 -

1/4

.

. Rr

RRR -

.

. Rrrr 1/2Rr: 1/2rr.

, 1/2

1/2 -

.

2.3 , -

F2

3/4 : 1/4 -

. , F2

3 : 1 . -

C -

c

-

. F2 1CC: 2Cc: 1cc.

, CC Cc. -

-

CC,

. -

Cc,

. -

,

Cc. F2 -

1CC: 2Cc,

Cc 2/3.

2.4 . Rr( -

) rr( ). F1 -

1Rr(

) : 1rr( ).

. RrRr, -

1/4RR: 1/2Rr: 1/4rr 3/4

(R) : 1/4 (rr).

2.6

( ) p

( ). -

3 : 1 ,

(Pp).

:PP

Pp. 2Pp: 1PP.

, 1/3

.

2.7 -

.

b -

. Bb,

bb.2.10

A

81

118

74

90

82

39

0

0

Gg

Gg

GG

GG Gg (G)


2/101

2.11 -

,

, -

Bb. , -

- 1 : 2 Bb.

. (bb)

-

, -

Bb.

Bb F1 2/3.

bb

Bb 1/4.

:

(

) = (

F1

Bb) (

bb -

)

= (2/3 2/3) (1/4)

= 1/9

.

F1 (Bb )

(Bb), -

.

: (1) Bb( F1) b(

), = 2/3 1 = 2/3 (2)

( F1) b( -

), = 1/3 1 = 1/3. -

-

1/4. -

, - :

= 2/3 ( BbBb)

1/4 ( -

bb ) = 1/6.

.

, -

. -

-

[P= 1/4 (bb) 1/2 ()

= 1/8] (-

,

). - Bbbb,

1 -

(bb) : 1 (Bb). -

, -

( bb

Bb), -

.

2.14 -

. -

, ,

, , -

. S -

s -

. -

, S ss

Ss.

Ss ,

3 -

(S) : 1

(ss).

Ssss -

1 Ss( ) : 1 ss( ). -

.

-

(s) -

(S) .

(ss)

-

2 2


3/101

, Ss ss

. -

,

-

(ss). , .

2.15 . Ww Ddww dd

. Ww ddww dd

. ww DDWW dd

. Ww Ddww dd

. Ww DdWw dd

2.16

a Bb Cca

Bb Cc, -

.

. aa,

3/4. , -

BbBb 3/4

C CcCc 3/4.

, -

-

(ABC) 3/4 3/4 3/4 = 27/64.

.

a a 1/4.

CC bBb

CcCc.

,

A B CC-

1/4 1/4 1/4 = 1/64.

2.20 . aa BB CC bbchch. F1 a Bb Cc

h

agouti .

,

F2 :

27/64

agouti, ,

9/64 agouti

,

9/64 agouti,

,

9/64

,

3/64 agouti ,

3/64

, agouti,

3/64

,

1/64

, agouti.

. F2

agouti, -

ABC. , 2/3 -

a. , 1/3 .

C, 2/3 Cch,

a BBCch 2/3 1/3 2/3 = 4/27.

. a Bb Cch a Bb

Cch, 1/4 bb

.

-

. , 1/4 -

.

. a Bb Cch a Bb

Cch, 3/4

. -

-

agouti. , 3/4

agouti .

2.24 C

aa bb. , C aa bb.

C -

. ,

a Bb, aa Bb D a bb.

2.25 . Ww RrW r.

3


4/101

(1/4 W R, 1/4 W r, 1/4 w R, 1/4 w r),

-

( W r). -

1/2 W Rr( -

, ) 1/2 Wrr( , ).

. -

.

1/4 W R( , ),

1/4 W r( , ), 1/4 w R

( , ), 1/4 w r( -

, ).

.

Cc( ).

, -

C. , -

CcC. -

-

Cc 1/2. Cc

-

C,

Cc 1/2. -

, -

1/2 -

1/2 1/2 = 1/4.

. -

F4 (1/2)4 = 1/16.

2.26 .

a, -

.. aa,

.

. a()

aa(),

a .

a

, aa(II.2,

II.5) .

-

, a(II.1, II.3, II.4)

.

. aaa

1/2 a() 1/2 aa( -

). ,

. , -

.

2.29 . -

Gaucher.

,

-

. , -

,

. ,

:

, -

IV.5,

IV.4,

IV.6 -

.7. .7 ,

,

.

. IV.5 IV.6

(V.1), -

a

4 2


5/101

.

IV.5 IV.6 , -

.

a,

- a .

IV.5 , -

a. -

IV.5 a 2/3. ,

IV.5 -

a V.1 2/3 1/2 = 1/3.

( IV.6 a) = ( .3 a

a

V.6)

= [( .6 a

a

.3) ( .3

a

IV.6)]

= [(2/3 1/2) 1/2)] = 1/6.

1/6 1/2 = 1/12

IV.6

a V.1. ,

-

a

1/12 1/3 = 1/36.

-

, IV.6

V.1 .

3 -

3.1 .

3.3 .

3.6 . ,

.

.

,

, -

. Neurospora

crassa Saccharomyces cerevisiae

.

. ,

-

.

3.8 . ,

,

1.

3.10 . : , -

.

. : ,

.

3.14 .

1/2. -

, -

(1/2)3 = 1/8.

.

,

-

. P(

) = 1 P(

- ).

() -

1/8. -

, P(

) = 1 (1/8 + 1/8) = 3/4.

3.15 -

, -

5


6/101

. -

-

.

-

- () .

3.17 . -

-

,

-

.

-

.

3.19 . 17 + 26 = 43 .

.

. -

-

, . -

-

, -

. -

. , -

-

. ,

, -

-

.

, .

3.20

1/2.

,

-

(1/2)5 = 1/32.

3.23

,

-

(c+c). O

, c+Y. -

c+cxc+Y. -

c+

.

,

-

(cY)

(c+Y).

3.25 . ww vg+vg+

w+Y vgvg. -

F1 wYvg+vg

( , ) w+w

vg+vg( , ).

.

, F2 3/8

, 3/8

, 1/8 -

1/8 .

. F1

, ww vg+vg+

wYvg+vg.

. F1

, w+w

vg+vgw+Yvgvg. : 1/4

, 1/4 -

, 1/4

1/4

.

,

.

3.28 - ( ) -

.

-

-

, -

.

b -

.

6 3


7/101

bb,

b. , -

50%

. b

- , -

.

3.30 . -

, -

(). c+ -

c -

, c+cc+c

1/4 cc. -

, -

1/4.

. 1

c+c+ : 2 c+c, 2/3

.

3.32 . -

,

: aY. a

,

F1 1.

. () -

(P= 0)

a F1.

. F1 b Cc Dd.

, P= 1/2.

. , a b Cc Dd

b Cc Dd.

. -

, F1 Aa. (1/4

) a. -

, 1/2

(..,

BbBb 1/2 b).

, F2

-

1/4 1/2 1/2 1/2 = 1/32.

. ,

-

(.., BB, bb) 1/4

(.., Bb)

1/2. /a, - aAY, -

a

1/4 -

1/2.

, -

(1) bb CC dd() P=

(1/2 1/4 1/4 1/4) = 1/128, (2) aY Cc

Dd() P= (1/4 1/4 1/2 1/2) =

1/64, (3) bb CC dd P= (1/4 1/4

1/4 1/4) = 1/256 (4) aa bb Cc Dd(-

) P= (0 1/4 1/2 1/2) = 0.

3.33 -

ww

: ww

-

. -

w+ .

Punnett,

-

wwY:

wwY -

. (w)

(w) -

, , (ww)

.

7

w+ Y

Ww

www+

wwY

O

w+O

YO


8/101

wwY w+Y -

Punnett:

3.37

-

. -

,

-

( a= ):

(a),

(aa) -

().

,

-

(aa= ): -

(aa), (a)

-

(aa). , -

-

: (a),

(a)

(

aa a). -

-

-

( ).

.

3.39 . -

-

-

. -

,

(-2)

(-5).

-

, -1 -2, .

. -

-

-.

-

. -

,

, -

-6 -7 -

, -

. -

8 3

w+ Y

wY

w+wY

wYY

w

w+w

wY

ww

w+ww

,

wwY

Yw+Y

YY

-

-

-


9/101

, -

.

3.42 () ,

-,

. () -

, -

,

,

. () -

-

1/4 -

, .

() . , -

-

,

.

3.43 () -

( aa

aa aa). -

() -

. ()

, -

-

. ()

.

, -

.

, -

-

,

. () -

. ,

.

3.45

,

- -

-

. -

.

-

h -

, -

. ,

h+ -

.

, -

-

h+,

90% . , 10%

-

h+, ,

, .

4 -

4.2 : w1/w1, w1/w2,

w1/w3, w2/w2, w2/w3, w3/w3 .

4.6 IAIB -

IAi.

(IAIA, IAIB, IAi, IBi) : A (P=

1/2), AB (P= 1/4) B (P= 1/4).. P= 1/2 1/2 = 1/4.

. P= 0,

O.

. P[( AB) (-

B)] = (1/2 1/4) (1/2

1/4) = 1/64.

4.8 O, i/i.

4.10 CR/CW CR/CW -

9


10/101

1 CW/CW : 2 CR/CW : 1 CR/CR. -

, -

.

4.12 F/F GN/GN f/f

GO

/GO

.. F1

F/f GN/GO

.

. G

, 9:3:3:1

F2. -

3/16 -

(F/ GO/GO), 6/16

(F/ GN/GO),

3/16

(F/ GN/GN), 1/16

(f/f GO/GO), 2/16

(f/f GO/GN) 1/16 -

(f/f GN/GN).

. F/f GN/GO

f/f GO/GO 1/4

(f/f GO/GO), 1/4 -

(f/f

GO/GN), 1/4 -

(F/f GO/GO) 1/4

(F/f GN/GO).

4.18 9:7 F2

9:3:3:1 -

A/a B/bA/a B/b F1. 9/16

A/ B/ -

1 A/A B/B: 2

A/a B/B: 2 A/A B/b: 4 A/a B/b.

A B , -

A/A B/B

.

A/A B/B 1/9 -

1/9.

4.19 9:7 F2 -

9:3:3:1,

A/ B/ A/ b/b,

a/a B/ a/a b/b .

-

. -

- , -

,

.

4.20 . A/a B/bA/a B/b

9/16 A/ B/, 3/16 A/ b/b, 3/16 a/a B/

1/16 a/a b/b. A/ b/b, a/a B/ a/a b/b

,

. -

A/ B/ . ,

9 -

: 7 .

. -

. -

-

.

. a/a B/bA/a B/b

5/8 (1/8 A/a b/b+ 1/2

a/a/) 3/8 (A/a B/).

4.23 C/c

-

Y/y

/agouti.

3 : 1 -

C/ -

, c/c

. 2

: 1 agouti - -

:

Y/Y, Y/y y/y-

agouti. -

agouti, c/c -

Yy,

c/c Y/y c/c y/y .

10 4


11/101

. ,

: C/ Y/y

c/c/y. ,

-. -

C/cC/c 1 :

1 Y/yY/y-

2 : 1 agouti. ,

C/c Y/yc/c Y/y.

. C/c Y/yC/c Y/y,

Y/Y ,

1 : 2

: 1 agouti.

, Y/y.

4.25 . Y/Y R/R() y/y r/r

() F1Y/y R/r(--

). F1

F2 1/16 (Y/Y R/R), 1/8

oo (Y/Y R/r), 1/16 (Y/Y

r/r), 1/8 (Y/y R/R), 1/4 -

(Y/y R/r), 1/8 (Y/y r/r)

1/4 (y/y/) . -

F1

1/4 (Y/Y R/R), 1/4 --

(Y/y R/r), 1/4 (Y/y R/R)

1/4 oo (Y/Y R/r).

. Y/Y R/r(o-

o) Y/y r/r( ) 1/4 -

oo (Y/Y R/r), 1/4 --

(Y/y R/r), 1/4 (Y/Y r/r) 1/4 -

(Y/y r/r) .

. Y/Y r/r() y/y R/r() 1/2 - (Y/y R/r)

1/2 (Y/y r/r).

4.27 .

,

:

A/ B/ C/. F1 A/a

B/b C/c, ,

A/ B/ C/ (3/4 3/4 3/4) =

27/64 . 1 27/64 =

37/64 -

-

. F2 -

27 : 37 ..

,

A B

C:

A/ B/ c/c.

F2 3/4

3/4 1/4 = 9/64. 1 9/64 = 55/64

.

F2

9 : 55 .

.

F2 -

() () .

F2

2.

4.32 -

. , -

H/H H/h -

h/h . -

, H/H .

H/H W/W h/h w/w . -

F1 H/h W/w

, -

. -

F1 F2:

11

3/16 H/H W/

6/16 H/h W/

3/16 h/h W/

1/16 H/H w/w

2/16 H/h w/w

1/16 h/h w/w


12/101

, -

9/16 : 3/16

: 3/16 : 1/16

.

3/16 : 9/16 :1/16 : 3/16 .

4.34 ,

4.32

:

, . -

h/h w/w,

-

.

H/H, -

H.

w/w,

w. , -

H/h W/w,

H/h w/w, H/h W/w h/h

W/w H/H w/w.

4.35 .

5

5.1 .

-

. -

25,21/8 =

3,15 cm

281,7/8 = 35,21 cm.

-

(s2). -

-

-

1:

s = s2 =

=

= 0,24 = 0,49 cm

s = s2 =

= = 59,05 = 7,68 cm. (r) -

(cov) -. x

y,

:

r= =covxy

sxsy sxsy

413,35

7

1,707

12 5

-

#1

#2

H/ W/

/h w/w

H/H W/

/h W/

/h w/w

H/H w/w

H/H W/

/h W/

H/h w/w

H/H W/

(xi x)2

n 1

(xi x)2

n 1

xiyi nxy

n 1


13/101

(xiyi)

.

.

(n 1)

. :

r= = = 0,99

. -

, -

1,0.

.

5.2

, -

. -

-

-

-

(.. 1, 2, 5 .) -

.

-

-. ,

,

( ),

.

,

-

-

.

.

-

-

-

-

. , 40

= 50 s2 = 5.

.

,

,

(). -

. -

, 10

= 20 s2 = 2

20

= 20 s2 =2 10

= 30 s2 = 2. -

-

0,49 7,68

3,74

3,76

13

913,508 3,15 35,21

7


14/101

-

.

.

,

-

.

. , -

10 -

= 25 s2 = 5, 20 = 42

s2 = 5 10 = 55 s2 = 5. -

-

.

5.3 -

.

( ) -

, -

- . -

-

F1

-

,

. , -

F1

.

5.4 . AA BBaa bb,

F1 Aa Bb. -

50 cm

30 cm,

(50 30)/4 = 5 cm -

30 cm. Aa Bb, -

,

40 cm.

. -

40 cm. , -

Aa Bb, AA bbaa BB 40 cm.

. F2, 1/16 AA

bb, 4/16 Aa Bb 1/16 aa BB. ,

6/16 = 3/8 40 cm.

. -

,

,

, -

.

5.10 -

.

F1

, F2

-

-

.5.13 -

, -

-

.

-

14 5


15/101

5 cm

1 . T,

AA BB CC DD EE FF(160 cm)

aa bb cc dd ee ff(100 cm) F2

-

.

AA

BB CC DD EE ff(150 cm) aa bb cc dd ee FF

(110 cm), F2 -

AA BB CC DD EE FF(160 cm)

aa bb cc dd ee ff(100 cm), -

.

,

-

.

, -

, -

-

.

-

, F2 -

.

, ,

AA BB CC dd ee ff(130 cm)

aa bb cc DD EE FF(130 cm).

F1 130 cm

(Aa Bb Cc Dd Ee Ff), F2 -

160 cm (AA BB CC DD

EE FF) 100 cm (aa bb cc dd ee ff)!

5.14 F1 AaBb Cc Dd Ee -.

F2 -

-

. -

-

F2

(2 3 -

) (0 1 -

). -

-. ,

F1 0, 1, 2

3 . , -

-

.

,

-

(1/2)5.

-

(1/2)5.

0

,

, -

-

.

,

(. -

)

-

.

F2

11 (1/2)10 = 11/1.024,

F2

165 (1/2)10 =

165/1.024. ,

F2 -

[1 (176 (1/2)10)] = 848/1.024.

:

-

-

-

. n= -

, s= -

, t= , a= -

15


16/101

,

b=

x! = (x)(x 1)(x 2) (1), 0! = 1.

p

-

:

p(s, t) = asbt

p(0, 10) = ( )0

( )10

=

p(1, 9) = ( )1

( )9

=

p(2, 8) = ( )2

( )8

=

p(3, 7) =

( )

3

( )

7

=

1 = -

5.15 . , -

AD -

.

AD

-

. , -

,

. -

,

-

.

. -

, -

. -

-

.

5.18 SHR -

. -

,

-

. ,

. (

, -

TIS

, -

.)

11 + 165

1.024

848

1.024

10!

3!7!

1

2

1

2

120

1.024

10!

2!8!

1

2

1

2

45

1.024 11

1.024

10!

1!9!

1

2

1

2

10

1.024

10!

0!10!

1

2

1

2

1

1.024 11

1.024

n!

s!t!

16 5

-

F2

0

0

1

0

1

2

0

1

2

3

(1/2)5

(1/2)5

5(1/2)5

(1/2)5

5(1/2)5

10(1/2)5

(1/2)5

5(1/2)5

10(1/2)5

10(1/2)5

0

1

0

2

1

0

3

2

1

0

(1/2)5

5(1/2)5

(1/2)5

10(1/2)5

5(1/2)5

(1/2)5

10(1/2)5

10(1/2)5

5(1/2)5

(1/2)5

0

1

1

2

2

2

3

3

3

3

(1/2)10

5(1/2)10

5(1/2)10

10(1/2)10

25(1/2)10

10(1/2)10

10(1/2)10

50(1/2)10

50(1/2)10

10(1/2)10

F1#1 F1#2 F2

}

}


17/101

5.20 .

-

, b,

.

b= = =

, x

y -

-

.

,

:

xi= 111, x= 11,1

yi= 108,5, y= 10,85

(xi x)2 = 51,4

xiyi= 1.257,5

b= = = 1,04

. 1,04

-

-

. h2

,

-

.

5.22 (S) 14,3

9,7 = 4,6 cm. (R)

13,0 9,7 = 3,3 cm. -

HN2 R/S= 3,3/4,6 = 0,72.

5.26 ()

() - :

, -

. -

VA/VP: 0,165

, 0,061

0,144 -

. -

. ,

-

-

.

5.27

-

.

, -

-

-

.

-

F1:

-

, F1

. F1

, -

.

,

2 4 -

-

.

1257,5 10 11,1 10,85

51,4

53,15

51,4

covxy

sxsy

17

xiyi nxy

n 1

(xi x)2

n 1

xiyi nxy

(xi x)2


18/101

6 -

6.2 -

2 -

, 2

=16,1 < 0,01. -

-

< 1%.

-

,

( a/a). -

,

/ : b/b -

1:1 (203:197), / :

a/a(240:160). -

a/a.

-

/a.

,

-

.

6.5 m ,

Xm/Xmvg+/vg+

Xm+/Yvg/vg. F1

Xm/Yvg+/vg, -

. F1

, m -

. vg m

, - vg+ m/vg+ m vg m+/vg m+ . -

F1 vg+ m/vg m+,

.

F1 F1 -

,

Drosophila -

,

:

-

,

vg m/vg m .

-

F2,

.

-

-

,

vg m

. m

2, -

3

4.

6.6

-

-

, -

-

, -

(

).

18 6

vg+ m/vg m+

vg+ m/vg

m+

vg+ m

()

vg m+

()

vg+ m

()

vg+ m/ vg+ m

-

vg+ m/ vg m+

-

vg m+

()

vgm+/vg+ m

-

vg m+/vg m+

vg+ m+

(-

)

vg+ m+/vg+ m

-

vg+ m+/vg m+

-

vg m

(-

)

vg m/vg+ m

-

vg m/vg m+


19/101

-

.

,

-

.

-

50%,

50 . -

c b 66

(= 7 + 8 + 38 + 13), cb

50%.

6.10 , -

. a b+/a+ b

(a b+, a+ b) -

90% (a b,

a+ b+) 10%. ,

45% a b+, 45% a+b, 5% a b 5% a+ b+.

6.11 7 mu,

-

7% (3,5% a b

3,5% a+ b+)

93% (46,5% a+ b 46,5% a b+).

a+ b+

.

.= 0,035 (a+ b+) + 0,465 (a b+) = 0,50.

. = 1,

,

a+ b+.

6.14

. , a

b 20 mu,

/a b

20% (10% A b 10% a B) -

80% (40% 40% a

b). , -

,

-

-

.

. (A B C D E F) = 0,40 0,45 0,35 =0,063 6,3%.

. ( C d e f) = 0,40 0,05 0,35 =

0,007 0,7%.

. ( b c D E f) = 0,10 0,05 0,15 =

0,00075 0,075%.

. (a B C d e f) = 0,10 0,05 0,35 =

0,00175 0,175%.

. (a b c D e F) = 0,40 0,05 0,15 =

0,003 0,3%.

6.15 D/d

P/p, 95% 5%

.

/h .

. 47,5% D P h d

p h, 2,5% D p h d P h.

. 23,75% d P H, d P

h, D p HD p h, 1,25% D

P H, D P h, d p Hd p h.

6.19 ,

o

.

.F m W, f M w.

.M f W, m F w.

.F w M, f W m.

6.21. . (

):

P: + + dp/ + + dp b hk+/ b hk +

F1 ( ): + + dp/ b hk + b hk dp/ b hk dp

-

(SCO)

(DCO), -

-

:

19


20/101

DCO

-

: b .

F1

(dp+ +/+ b hk) -

SCO -

-

: dp b hk + + + -

dp b,

dp+ hk + b+ b hk.

(RF):

RF(dpb) = [(171 + 169 + 6 + 8)/1.000] 100% = 35,4%

RF(bhk) = [(21 + 19 + 6 + 8)/1.000] 100%

= 5,4%

: dpb

35,4 mu, bhk5,4 mu, dphk40,8 mu.

. = 1

= 1 -

DCO/ -

DCO= 1 (14/1.000)/0,354 0,054)

= 1 0,73 = 0,27

6.25 -

(l) -

: : l/+ +/Y, F1: +/Y, l/Y

(), l/+ , +/+ .

l -

l

,

. , -

l. , -

-

( -

)

. -

l. -

, -

(SCO)

(DCO) ( ), -

(l/+) :

-

DCO a b l.

a+ +, + b l.

a+ +/+ b l. 44 +b+

bl, 48

+ + +

ab 2 a b+ - (

). -

, -

,

-

.

, -

-

20 6

a+ +

+ b +

+ + +

a b+

405

44

48

2

SCO

SCO

DCO

,

,

,

, -

,

+ + dp

b hk+

b hk dp

+ + +

+ hk dp

b + +

+ hk+

b + dp

305

301

171

169

21

19

8

6

SCO

SCO

SCO

SCO

DCO

DCO


21/101

(RF)

:

RF(ab) = [(48 + 2)/499] 100% = 10%

RF(bl) = [(44 + 2)/499] 100% = 9,2%

6.26

,

. -

-

( -

) -

.

ac 14% (7%

a c, + +) cb 12% (6%

+ +, c b). -

.

-

.

(0,12 0,14) 100% = 1,68%.

0,3, -

30%

, 1,68% 0,30 = 0,50%

(0,25% a c b + + +).

-

. -

,

,

.

-

(

) -

.

ac -

14% 0,5% = 13,5% (6,75%

a c+, + + b) 12% 0,5% = 11,5%

cb(5,75% a+ +, + c b).

[100% (13,5% +

11,5% + 0,5%) = 74,5%]

(37,25% a+ b,+ c+). -

, :

6.29 . (. -

):

21

a+ b

+ c+

a c+

+ + b

a+ +

+ c b

A c b

+ + +

37,25

37,25

6,75

6,75

5,75

5,75

0,25

0,25

745

745

135

135

115

115

5

5

;

a, b

a, c

a, d

a, e

b, c

b, d

b, e

c, d

c, e

d, e

902

973

957

497

875

945

497

930

498

496

98

27

43

503

125

55

503

70

502

504

9,8

2,7

4,3

50,0

12,5

5,5

50,0

7,0

50,0

50,0


22/101

a, b, c d ,

50%. e

.

-

, :

. -

:

b+ d a+ c/b d+ a c+, e/e+ b d a c/b d a c, e/e.

b+ d+ a+ c+ -

. -

b d, d a, a c.

b+ d+

a+ c+ b d a c. , -

e+ e. :

(b+ d+ a+ c+ e+) = (

-

e+)

= 1/2 (0,055 0,043

0,027) 1/2

= 1,6 105

= 0,0016%.

6.31 , 2

-

. -

.

2

Sharpen Up, -

, -

2,

.

-

,

Sharpen Up -

. 83 -

367 + 260

= 627 . , , -

Sharpen Up

83/627 = 13,24%.

2

-

.

: Sharpen Up

,

/

. -

. -

c

C. Sharpen Up -

(cc), -

(1) ccCC C ( ),

(2) ccCc 1/2 Cc(), 1/2 cc

() (3) cccc cc(-

). -

( = 1/3), , -

,

627 [(1/3 0) + (1/3 1/2) + (1/3

1)] = 314. 627 314 = 313

. -

-

22 6


23/101

(13,24%) -

,

-

314 0,1324 = 42

313 0,1324 = 41. -

45 38 -

. , 2 = [(45 42)2/42

+ (38 41)2/41] = 0,43, df = 1, 0,50 < P90% ,

CDEI,

RTCACRTG ( R = A G),

CDEIII, 25 bp

. CDE

38 10


39/101

-

. -

, CDEI -

1 (Cbf1,Centromere-binding factor 1), CDEII

CDEIII

Cbf3. Cbf3

-

.

10.34 DNA .

10.36 .

:

.

,

-

. -

-

. , -

-

-

, 36 kb, -

, -

.

. ,

Alu -

.

GC. ,

.

11 DNA

11.2 : 15-15 DNA = , 15-14

DNA = L, 14-14 = LL.

. 1: HL, 2: 1/2 HL, 1/2 LL, 3: 1/4

HL, 3/4 LL, 4: 1/8 HL, 7/8 LL, 6: 1/32 HL, 31/32 LL,8: 1/128 HL, 127/128 LL.

. 1: 1/2 HH, 1/2 LL, 2: 1/4 HH, 3/4 LL,

3: 1/8 HH, 7/8 LL, 4: 1/16 HH, 15/16 LL, 6: 1/64

HH, 63/64 LL, 8: 1/256 HH, 255/256 LL.

11.4 . DNA

-

. ,

3 , -

5 3 -

. , DNA

DNA -

3 5 5 3,

DNA

DNA.

. DNA -

-

. ,

(

). -

.

. DNA

DNA : -

DNA (5 3).

11.5 DNA in vitro DNA

, -

dATP, dGTP, dCTP dTTP, -

DNA -

.

11.6

Kornberg -

39


40/101

DNA in vivo

polA1 polAex1. -

polA1 99% -

DNA , , DNA

.

42 C, polAex1,

-

, -

5 3.

, -

,

DNA .

11.9 -

, B D , C -

.

11.14 DNA

3-

5-

DNA,

(.

11.7). -

-

() -

, -

-

. -

DNA

E. coli -, DNA

Okazaki.

DNA -

.

11.15

E. coli. -

-

E. coli.

( -

)

.

, -

. -

, -

-

.

11.17 DNA

E. coli. DNA

,

E. coli, DNA

DNA

5 3 ( -

), 3

5 ( ). -

DNA .

11.19 . DNA -

ter

cos

.

- , -

DNA

. A

DNA, ,

.

. ter -

() 12 -

. E. coli,

40 11


41/101

-

-

DNA . , ,

. - E. coli,

, -

,

.

11.20 . 13

() () (G) (C),

DNA. -

.

. -

,

, -

DNA -

.

.

13, -

-

. , DNA -

-

,

. -

,

, - .

, -

-

-

,

13.

DNA

. -

, -

.11.21 DNA -

:

. DNA

DNA 5 3.

-

3 , -

.

, DNA -

-

,

. -

-

,

-

.

E. coli, DNA

DNA.

3 5 -

. DNA

. DNA

. DNA

, -

5 3, - RNA

5 Okazaki. DNA -

, V V

DNA.

,

DNA DNA -

: Pol /, Pol Pol . -

41


42/101

10

RNA Pol

30 -

. RNA/DNA -

Pol Pol . -

,

. DNA -

DNA -

DNA.

11.23 4

G2, 30

S 4,5

. -

3- -

, 4,5

.

,

S,

3, -

4,5 .

11.26 . - -

DNA BUdR.

BUdR ( )

DNA,

Giemsa

.

DNA BUdR -

, DNA , -

BUdR, -

BUdR

( BudR).

DNA.

, DNA -

() BUdR

() . , DNA -

BUdR ( ) -

DNA BUdR

(

).

.

DNA

DNA BUdR

( ).

11.28 -

-

.

RNA. RNA -

-

. RNA

, ,

, -

.

,

RNA .

11.31

.

-

/ -

.

a1a2+ a1+ a2,

2:2,

Holliday

a1 a2, -

. -

42 11


43/101

a1a3+ a1+ a3 a2a3+ a2+ a3

DNA. - a1a3+ a1+ a3

2:2 a3+ : a3 3:1 a1+ : a1.

-

a1 a1+.

a2a3+ a2+ a3, -

a2 ,

a3 a3+ :

a3 3:1,

a3 a3+.

11.34 ry206 ry209 -

, -

ry206 ry+ -

kar ry+ ace kar+ ry+ ace+. -

ry -

ry+

. -

ry206 kar ry206 ace-

ry+ -

ry kar+ ry209 ace+,

209. -

ry209 kar+ ry209 ace+ -

ry+

ry kar ry206 ace,

206 (. 11.18). -

kar ace(kar+ ry+ ace,

kar ry+ ace+)

:

Holliday

ry206 ry209 ,

(. -

11.17).

12

12.4 PKU,

U.

-

, - , -

.

12.6

.

.

,

. ,

,

.

(

), -

(-

-

), -

(

). -

.

,

-

. - .

, .

, , ,

Tay-Sachs -

.

-

,

43


44/101

-

. -

, -

.

, -

-

.

-

-

, -

. -

-

-

,

.

-

, ,

.

-

,

. ,

-

. -

,

, -

,

.12.7 -

DNA

-

. ,

-

-

,

-

. -

-

.

, -

-

-. -

-

-

-.

-

.

-

-

. ,

.

-

,

, -

,

-

DNA

.

12.10 F1 F1 a+/a b+/b c+/c

d+/da+/a b+/b c+/c d+/d.

. F2, a/a, b/b/

c/c. ,

.

, : -

= 1

.

( a+/ b+/ c+/)

44 12


45/101

3/4 3/4 3/4 = 27/64. -

1 27/64 = 37/64.

. -

a+/ b+/ c+/ d/d.

3/4 3/4 3/4 1/4 = 27/256.12.12 . -

a+, b+ c+ -

-

,

-

. F2

a/a b/b c/c. -

1/4

1/4 1/4 = 1/64.

. -

d, F2

. F2

:

d/d/ / / ( -

) d+/ a/a b/b c/c

( ). -

(1/4 1

1 1) + (3/4 1/4 1/4 1/4) = 67/256.

12.14 . 1/2 w/w+ bw/bw+ st/st+, -

,

1/2 w/Ybw/bw+ st/st+,

.

. w/w+ se/se+ bw/bw+ w+/Y se/se+

bw/bw+,

.

.w/w+ v/v+ bw/bw, w+/Yv/v+ bw/bw,

.

. 1/4 w+/ww+/Ybw/bw+ st/st+,

, 1/4 w+/w w+/Ybw/bw

st/st+, , 1/4 w+/w w+/Ybw/bw+ st/st,

, 1/4 w+/w w+/Ybw/bw

st/st,

3-

.

12.15 4

. -

,

E. coli

( ) -

17 C 42 C

. -

1 -

17 C 42 C.

,

.

1, ,

,

. 17 C, -

.

17 C, -

, ,

.

, 42 C,

-

-

.

1,

, -

. E. coli

42 C, ,

, -

. , -, 17 C

,

, -

-

. , 1, -

-

17 C 42 C.

2,

45


46/101

42 C 17 C. -

-

- .

12.16

. -

-

,

-

. ,

(

)

, -

. a-

,

-

. c,

a-

b d. -

d, b

. , -

acdb.

12.17 . c d+ c+ d.

. c/c+ d/d+

PD ( , 4

cd+ 4 c+d, -

) NPD ( -

, 4 c+d+ 4 cd, 4 -

4 -

), c d .

. . -

c .

d .

12.18

. , -

-

( -

),

-

. -

4

,

1 4

3 4

.

,

.

(-

)

-

-

. , ( -

) -

,

-

. , D E

4.

(D E)

4 -

46 12


47/101

.

-

,

. 4

. -

, 4

-

,

.

12.19

d e ,

d

e. ,

, c d,

. , -

. ,

.

12.20 . ,

-

.

-

,

. -

Lesch-Nyhan ,

.

. 1-

25-

25--

,

, . -

, 1,25-

( D), -

,

().

,

.

12.22 p+ 50%

p+/p+. p+ -

( p+/ c+/c+

), -

.

50% -

-

(.. 25%

)

100%

-

,

12..

12.23 . -

, -

. ,

50%

GSS ,

-

(-

/+)

GSS. ,

, .

GSS -

-

-

. -

.

47


48/101

. 1,

9% GSS, -

,

2, 50% -

GSS,

. , -

-

GSS.

. -

-

( -

-

). - -

,

.

-

. ( -

14.)

. ,

-

, , 5--

-

.

GSS 9%

, 5--

. GSS

50% ,

GSS -

5-..

( ),

-

, -

GSS.

( ,

GSS -

,

48 12

-

+/+

50:50 -

+/+

-

+/+

()

()

()

() -

-

p+/p+

p1/p1

p2/p2

p3/p3

p4/p4

p5/p5

100

20

0

300

0

0

100

60

50

200

5

50

-

12.


49/101

GSS -

.)

. GSS

, GSS -

.

GSS -

-

-

,

GSS. -

GSS, (

) .

, -

GSS

.

12.27 . 12.11, Hb

Norfolk -

, HbS

. -

,

-

. , -

(

)

. , -

, -

.

-

. , -

HbS/+

,

.

. HbC HbS

. HbC ,

HbS .

, -

. ,

. , HbC/HbS

:

HbC

HbS.

12.31 . , -

1

12.000 -

1 2.000 . -

,

1

17.000 1 90.000 .

-

,

-

.

. Guthrie -

.

, -

- B. subtilis

-2-.

B. subtilis,

-

. , -

-

.

-

49


50/101

-

,

.

. - , -

-

.

-

-

, -

. -

-

-

-

. , -

DNA .

,

DNA -

-

,

.

. -

-

-

-

.

-

, -

. -

.

12.33 .

DNA

-

. , Guthrie

-

,

. -

.

-

-

. DNA

-

-

(..

-

). -

,

. ,

-

, -

.

. Lesch-Nyhan

.

, DNA -

Chvez - . -

Tay-Sachs -

-

-

. , -

DNA -

50 12


51/101

.

,

.

. - . Lieberman

, -

-

Tay-Sachs. ,

Chvez , -

-

.

-

-

,

Lesch-

Nyhan. -

-

,

-

. ,

,

, . -

-

-

-

. ,

Lesch-Nyhan.

13 :

13.1 DNA RNA

-

, -

. DNA ,

RNA . -

.

DNA , RNA -

. RNA

-

- ,

tRNA. DNA

, -

( )

.

DNA, RNA

.

mRNA,

.

-

. DNA -

-

, RNA -

( mRNA -

), -

( rRNA -

tRNA

),

RNA ( snRNA

-

).

DNA RNA -

-

5 3. -

DNA -

-. , DNA - 3-OH -

RNA .

RNA -

,

DNA . ,

RNA -

DNA -

.

51


52/101

13.3 , RNA -

RNA 5

3,

DNA 3 5 . , -

-. E. coli -

RNA

. , -

RNA : RNA I,

II III. RNA I 28S,

18S 5,8S rRNA .

RNA II hnRNA (

mRNA) snRNA

. RNA III

tRNA,

5S rRNA snRNA.

RNA -

-

.

E. coli, -

-

( -

).

35 bp

( 35),

10 bp

( 10), - 17 bp DNA -

.

-

RNA

DNA,

-

. -

,

.

RNA

-

-

, -

. -

,

RNA

-

-

.

13.7 . . 5-AG-3

-

.

-

-

10 35 -

RNA

70. , ,

. 35

(TTGACA)

8 5 -

10 (TATAAT)

32

5 .

-

5-AG-3 - 44 5

.

. -

.

. (3 5) .

. (5 3) .

13.9 . E. coli -

-

52 13


53/101

. -

, -

. -

35 10 - -

70. -

-

.

-

,

(32),

(54) -

T4 (23).

. -

RNA , -

-

.

.

.

(

, ,

N2, )

-

.

13.10 RNA I -

18S, 5,8S 28S

rRNA. RNA II -

mRNA. snRNA. RNA III

5S rRNA, tRNA

RNA.

, 18S, 5,8S, 28S 5S

rRNA -

,

. mRNA -

-

. tRNA -

. -

RNA - ,

RNA.

13.18 , -

18S, 28S 5,8S rRNA

rDNA pre-rRNA,

-

-

-

, -

rRNA (. 13.19).

5S RNA -

5S rRNA, -

.

5S rRNA , -

rRNA

. -

pre-rRNA Tetrahymena-

- 28S rRNA

( I).

28S rRNA --

o pre-rRNA (. 13.14).

-

RNA -

II -

. RNA II 20 30 RNA,

5 -

m7Gppp 5-5 -

. (A),

, 3

.

(A),

53


54/101

-

. , -

mRNA

. mRNA - - , -

-

, .

13.21

-

,

.

.

-

. -

,

-

.

. U1

, U1 snRNA

5 -

mRNA. -

, -

.

. -

U1 snRNA

5 . ,

-

(), -

..

2 -

( , -

5

3 ), -

mRNA. ,

-

. ,

-

2

mRNA,

, .

. -

3

2, , -

, -

. ,

-

, -

.

13.22 1 (5 m7G) + 100 ( 1) + 50

( 2) + 25 ( 3) + 200 ( (A)) =

376 .

13.23

5-GU-3

U1 snRNA

.

GC TA -

-

U1 snRNA,

5

.

tubmRNA

mRNA tub/tub. -

tubmRNA,

-

tub+ , , -

, -

. -

.

tub ,

tub+ -

tub/tub+

54 13


55/101

-

mRNA.

mRNA -

, -

-. tub -

. tub/tub,

, -

.

13.26 . 3.

. 1, 2, 3, 4.

. 3.

. 1, 2.

. 1 ( tRNA

rRNA ).

. 4.

. 1.

14 :

14.1 .

14.3 . -

, -

-

.

-

,

-

.

. -

.. -

.

.

-

. -

,

-

-

.

. ,

, , (. 14.2).

-

. -

, -

. -

-

-

-

.

,

. ,

-

,

(.

12.10). ,

.

14.4 . ,

, ,

.

,

-. ,

- - -

. -

.

. -

, -

. -

55


56/101

-

, (), -

-

.14.6 -

rRNA -

. , 3 16S rRNA

mRNA. rRNA E. coli -

Shine-Dalgarno, -

mRNA (RBS, Ribo-

some Binding Site). -

16S rRNA / mRNA

3 16S rRNA

Shine-Dalgarno

mRNA -

. , 23S rRNA

.

-

23S rRNA. -

-

50S,

rRNA 1.

14.9 H 14.7 14.1

. -

:

56 14

tRNA

Ile

Phe

Tyr

His

Gln

Asn

Lys

Asp

Glu

Cys

Trp

Met

ValPro

Thr

Ala

Gly

Leu

Arg

Ser

1

1

1

1

1

1

1

1

1

1

1

2

22

2

2

2

3

3

3

3 1 tRNA ()

2 1 tRNA ()

1

, 1 tRNA 1 tRNA

4 : 2 1 tRNA ()

6 : 2 1 tRNA ()

32 61


57/101

14.10 -

, -

,

tRNA

- . , -

, -

.

14.14 mRNA

5

7--G 3 -

(A).

.

eIF-4F -

-

40S, Met-

tRNA. Met eIF. ,

(A) -

eIF-4G,

eIF-4F -

.

14.17 -

-

() -

. -

.

. 4 : 6 C

23 = 8 , : AAA, AAC, ACC, ACA, CCC, ACA, CAC

CAA. 40% 60% C:

P(AAA) = 0,4 0,4 0,4 = 0,064 6,4% Lys

P(AAC) = 0,4 0,4 0,6 = 0,096 9,6% Asn

P(ACC) = 0,4 0,6 0,6 = 0,144 14,4% Thr

P(ACA) = 0,4 0,6 0,4 = 0,096 9,6% Thr

( 24% Thr)

P(CCC) = 0,6 0,6 0,6 = 0,216 21,6% Pro

P(CCA) = 0,6 0,6 0,4 = 0,144 14,4% Pro

( 36% Pro)

P(CAC) = 0,6 0,4 0,6 = 0,144 14,4% His

P(CAA) = 0,6 0,4 0,4 = 0,096 9,64% Gln

. 4 G : 1 C

23 = 8 ,

: GGC, GCG, GCC, CGG, CGC, CCC

CCG. 80% G 20% C:

P(GGG) = 0,8 0,8 0,8 = 0,512 51,2% Gly

P(GGC) = 0,8 0,8 0,2 = 0,128 12,8% Gly

( 64% Gly)

P(GCG) = 0,8 0,2 0,8 = 0,128 12,8% Ala

P(GCC) = 0,8 0,2 0,2 = 0,032 3,2% Ala

( 16% Ala)

P(CGG) = 0,2 0,8 0,8 = 0,128 12,8% Arg

P(CGC) = 0,2 0,8 0,2 = 0,032 3,2% Arg

( 16% Arg)

P(CCC) = 0,2 0,2 0,2 = 0,008 0,8% Pro

P(CCG) = 0,2 0,2 0,8 = 0,032 3,2% Pro

( 4% Pro)

. 1 : 3 U : 1 C -

33 = 27 . -

, UAA, .

20% , 60% U 20% C,

0,6 0,2

0,2 = 0,024 2,4%. 26 (97,6%) -

.

() () -

- . -

-

27 ,

-

. -

-

-

. :

57


58/101

(0,8/0,976)% = 0,82% Lys

(3,2/0,976)% = 3,28% Asn

(12,0/0,976)% = 12,3 % Ile

(9,6/0,976)% = 9,84% Tyr

19,2/0,976)% = 19,67% Leu(28,8/0,976)% = 29,5% Phe

(4,0/0,976)% = 4,1% Thr

(0,8/0,976)% = 0,82% Gln

(3,2/0,976)% = 3,28% His

(4,0/0,976)% = 4,1% Pro

(12,0/0,976)% = 12,3% Ser

-

-

-

.

. A : 1 U : 1 G : 1 C

43 = 64 :

.

1/64. -

,

3/64,

1/61.

-

-

-

. -

(

14.7), -

.

14.18 20

, 20 .

-

-

,

mRNA,

20 .

14.20 . 3 -TAC AAA ATA AAA ATA AAA ATA AAA

ATA...-5. ( fMet Met -

.)

. 5-ATG TTT TAT TTT TAT TTT TAT TTT

TAT...-3.

. tRNA Phe 3--5, -

tRNA Tyr 3-AUA-5.

14.22 RNA -

: Lys

(AAA, AAG), Arg (AGG, AGA), Glu (GAG, GAA)

Gly (GGA, GGG). -

, -

58 14

Trp

Met

Phe

Try

His

Gln

Asn

1

1

2

2

2

2

2

1/61 = 1,64%

1,64%

2/61 = 3,28%

3,28%

3,28%

3,28%

3,28%

Lys

Asp

Glu

Cys

Ile

Val

Pro

Thr

Ala

Gly

Leu

Arg

Ser

2

2

2

2

3

4

4

4

4

4

6

6

6

3,28%

3,28%

3,28%

3,28%

3/61 = 4,92%

4/61 = 6,56%

6,56%

6,56%

6,56%

6,56%

6/61 = 9,84%

9,84%

9,84%

. 5

. 3

. 2

25 = 32

33 = 27

52 = 25


59/101

. RNA -

: Lys (AAA), Asn (AAU), Ile (AUA, AUU),

Tyr (UAU), Leu (UUA), Phe (UUU) -

(UAA). -

(1/4 3/4 3/4) = 9/64 = 0,14 14%. ,

RNA

. A -

14%, -

(1/0,14 = 7,14).

RNA

.

14.24 5-GAU-3

5-AUC-3,

Ile. 5-CAU-3

5-AUG-3,

Met. tRNA -

tRNA.Met

5-AUG-3, -

-

, , Ile

Met. -

tRNA.Met,

-

Met. , -

-

, tRNA -

AUG -

:

Met-Val-Ser-Ser-Pro-Ile-Gly-Ala-Ala-Ile-Ser

Met-Val-Ser-Ser-Pro-Met-Gly-Ala-Ala-Ile-Ser

Met-Val-Ser-Ser-Pro-Ile-Gly-Ala-Ala-Met-Ser

Met-Val-Ser-Ser-Pro-Met-Gly-Ala-Ala-Met-Ser

14.26 , , ,

-

. -

.

- . ,

-

( -

-

):

: Met-Phe-Ser-Asn-Tyr- ... -Met-Gly-

Trp-Val

: Met-Phe-Ser-Asn

: ...-Met-Gly-Trp-Val (

-

AUG.)

: Met-Phe-Ser-Asn-Tyr- ... -Met-Gly-

Trp-Val

: Met-Phe-Ser-Lys-Tyr- ... -Met-Gly-

Trp-Val

: Met-Phe-Ser-Asn-Ser- ... ( -

-

. -

-

, ...Trp-Gly-

Gly-Cys...)

: Met-Phe-Ser-Asn-Tyr-...-Met-Gly-

Trp-Val-Trp... ( -

-

.)

14.30 . mRNA -

, 5

().

.

1.480

1.480 3 = 4.440 . 5

59


60/101

3 -

6.500 4.440 = 2.060 ,

32% mRNA.

. F508

- DNA.

.

mRNA

mRNA

. -

, -

. , -

,

.

, -

,

-

,

,

.

14.31 -

. D

,

-

.

15 DNA, DNA

15.1 .

15.3 . ( -

).

15.4 . - -

. -

, -

.

15.6 .

5-CUG-3,

tRNA 5-CAG-3. -

tRNA 5-GUG-3 ,

5-CAC-3. CG

GC.

. Leu.

. Val.

. Leu.

15.8

. -

.

5BU

DNA .

DNA

-

C DNA .

-

, TA CG.

, -

lacZ-1 -

-

, -

,

. -

, -

,

(.

12.8). lacZ-2 -

, -

, - .

.

-

.

60 15


61/101

15.9 . .

. , mRNA UGG

UAG, -

,

5-AUG-ACC-CAU-UAG--3.15.11 . UAG: Gln (CAG), Lys (AAG), Glu (GAG),

Leu (UUG), Ser (UCG), Trp (UGG), Tyr (UAC,

UAU), (UAA).

. UAA: Lys (AAA), Gln (CAA), Glu (GAA),

Leu (UUA), Ser (UCA), Tyr (UAC, UAU), -

(UGA, UAG).

. UGA: Arg (AGA, CGA), Gly (GGA), Leu

(UUA), Ser (UCA), Cys (UGC, UGU), Trp (UGG),

(UAA).

15.13

15.18 . 5-

. -

C

G.

GC :

.

C U -

CG TA.

15.21 dGTP

:

15.23 - -

G -

, C

U

. C,

U C:

15.27 C -

U. U .

CG

.

.

(U C). -

Pro CCN, () Ser UC, Leu CUN

Phe UUY. (

5 3,

.)

DNA, 5-C

Pro

UCN Ser, -

3-AGN-5.

61


62/101

C

Pro DNA, CUN

Leu, -

3-GAN-5.

-

C DNA,

(UUN mRNA),

-

3--5. -

-

Phe -

, C (U

mRNA)

3--5 3-G-5.

-

C U

,

(U mRNA) -

Phe DNA ,

-

3--5.

-

, -

.

15.28

-

() -

.

ara-1: BU ,

-, ara-1

. BU -

CG GC,

CG

. -

ara-1, , ,

TA CG -

CG .

ara-2: -

BU, AP HA, -

.

CG

, - TA CG.

ara-3: , -

CG. -

, -

CG CG

.

.

15.35 15.24,

Ds(

),

C

. -

-

-

Ds C. Ds

C -

Ac ,

.

-

.

Ds. -

C,

C Ac,

Ds. - , ,

C.

-

B D, D

Ac. , -

C, A D B D -

Mendel .

62 15


63/101

15.37

RNA,

(

Ty),

RNA. -,

RNA.

-

RNA -

DNA ( -

).

16 -

DNA

16.2

-

DNA

. -

:

(1) DNA -

.

(2) :

,

Southern

northern.

, -

-

DNA RNA -

.

(3) (dT)

() cDNA mRNA.

(4)

- PCR.

-

-

. ,

Southern

northern DNA RNA, -

, -

-

-

- .

16.4

DNA -

.

DNA A, T, C G -

, -

-

(-, -, G-C C-G)

1/4. -

(1/4)2.

, n -

(1/4)n. -

, -

1/4.096 = (1/4)6,

-

.

16.7 -

,

DNA -

E. coli

.

.

16.12

.

- .

, -

cDNA

, ,

. -

cDNA -

63


64/101

. cDNA

,

-

AUG. , ,

-

, -

cDNA

. , -

Shine-Dalgarno,

-

Kozak.

16.13 cDNA. -

,

cDNA -

mRNA . -

pre-mRNA,

-

-

-

. cDNA ,

.

16.14 pUC19 . -

Shine-Dalgarno

lacZ.

cDNA -

pUC19, - -

lacZ. ,

cDNA 5

,

.

,

cDNA,

-

-, -

. -

, cDNA -

. -

, -

.

-

,

cDNA 5

. , -

-

.

--

-

,

-

.

16.16 -

-

:

1. DNA.

2. DNA

( Sau3A) -

(5-10 kb).

3. 5-10 kb

( -

).

4.

pUC19 ,

BamHI,

Sau3A. BamHI

Sau3A.

64 16


65/101

5. -

DNA ( -

, pUC19), .

6. E. coli.

7. ( pUC19

-

) X-gal, -

-

( -

).

BAC -

DNA ( 200

300 kb).

16.17 = ln(1 P)/ln(1 f),

N , -

, f -

DNA -

ln . -

, p= 0,90, f= (2 105)/(3 109) -

= 34.538.

16.20 . 16.17, = [ln (1

p)]/[ln(1 f)]. , p= 0,95. (i), f= (7 103)/(3 109). (ii), f = (1 106)/(3 109).

(i)

1,28 106 (ii) 8,99 103.

.

,

. ,

. -

,

1 b

7 kb. -

-

, -

,

-

.

.

, ..

,

. -

-

.

16.22 -

-

. , -

, -

ura3

URA3. ,

. -

URA3. -

URA3 ( ),

. ,

-

-

, -

.

,

.

16.24 ,

DNA

65


66/101

. -

, 5-ATG TT(T

G) TA(T C) TGG ATG AT(T, C A) GG(A, G, T

C) T A(T C)-3. 96 -

. ,

-

cDNA (. 16.11).

16.27

-

. -

.

1.900 bp

2.100 bp

2.500 bp .

, 2.500 bp 2.100 bp

1.900 bp,

- 200 bp

- 600 bp .

, -

, -

DNA -

.

16.29 . DNA

,

EcoRI

. -

-

EcoRI,

DNA

,

.

pUC19 EcoRI

10 kb.

, - :

DNA (10 kb) DNA

(2,69 kb).

. -

EcoRI 10 kb, -

10 kb.

16.30 DNA -

( ), -

.

16.31 . 2,0 kb,

DNA

-

EcoRI.

. -

EcoRI, -

DNA

EcoRI. , -

,

.

. ,

.

. (), -

.

EcoRI ,

.

,

EcoRI.

.

66 16


67/101

. -

EcoRI -

,

EcoRI.

EcoRI 3,0 kb - 14 -

.

14

. , -

.

-

EcoRI -

,

. , -

,

3,0 kb.

. TDF

DNA -

,

.

16.32 . NotI -

8 bp, BamHI -

6 bp. -

8 bp 16 -

6 bp

(. 16.6).

. NotI -

cDNA

47 kb. ,

.

. BamHI 10,5 kb, 8,2 kb

4,1 kb cDNA. , -

.

. RNA

28,9 kb.

cDNA, DNA -

.

. BAC -

BamHI

NotI.

-

-

: 47 kb NotI. -

,

.

BamHI

.

16.34

, ,

pre-mRNA

mRNA ,

. ,

-

. -

, -

DNA

northern

mRNA .

mRNA -

,

, -

-

. mRNA

, -

. -

-

DNA, , -

-

RT-PCR cDNA

mRNA -

.

. -

,

. , -

67


68/101

DNA, PCR -

cDNA. , -

-

- DNA.

16.35 .

Southern cDNA

, mRNA -

.

. northern

pre-

mRNA -

. -

, 0,8 kb

0,8 kb, , -

,

.

. cDNA

mRNA -

.

northern pre-mRNA

(

) . -

,

.

(

EcoRI-HindIII BamHI),

( cDNA -

EcoRI-HindIII 0,5 kb, -

).

. -

Southern

-

, cDNA -

. -

Southern

DNA cDNA,

.

/ -

.

2,0 kb, 1,4 kb 1,3 kb -

cDNA

. 7,8 kb,

7,4 kb, 6,1 kb 3,6 kb

cDNA -

. , -

-

.

16.36 -

DNA 3 . -

, -

-

.

,

. -

-

.

68 16


69/101

16.42 -

DNA,

-

PCR. PCR, DNA -

Taq -

, -

, -

.

, -

, , -

PCR,

. ,

PCR , -

-

PCR, - .

17

DNA

17.3 -

( -

, -

),

. ,

-

-

. , -

- -

-

.

, ,

-

-

,

.

17.6 SNP

.

, SNP

RFLP. STR

VNTR -

( 2 6 bp

STR 7 bp

VNTR), SNP.

17.7 -

STR

,

-

. , -

STR .

-

, -

.

STR -

,

. -

69


70/101

DNA. ,

STR -

DNA.

17.8 . - 10 . -

-

EcoRI

:

,

.

RFLP.

EcoRI -

-

,

.

1

5,0 kb, -

2.

-

EcoRI 5,0

kb. ,

5,0 kb

1 2. , , -

EcoRI.

,

.

-

3

4. -

,

5,0 kb. 1,9 kb

4,

3,1 kb.

-

x .

, 1,0 kb

x -

, -

x.

-

x

, -

( ) -

: 5,0 kb, 3,1 kb, 1,9 kb, 4,0 kb 2,1 kb. -

, 5

x

, x.

.

. 1 -

, , / , , ,

, ,

Southern,

, : 3,1

1,9 kb. 6

, , / , x. -

70 17

;

1

2

3

4

5

6

7

8

9

10

, , / , ,

, / ,

x, / x,

x, , / x, ,

, / , ,

x, / , ,

, , / x, ,

, / x,

, /x, ,

x, / x, ,


71/101

, ,

, x 4,0 kb. -

,

, , / , , , , / , x

1:1. -

-

( 3,1 /

1,9 kb 4,0 / 3,1 / 1,9 kb).

17.9 -

.

, -

-

.

. -

, -

-

.

.

-

, -

. -

, -

. (

DNA .)

17.10 . PCR-RFLP: DNA

PCR 200 bp

4. PCR,

Tsp45I

. -

Tsp45I

120 bp 80 bp. -

Tsp45I,

200 bp.

. PCR-RFLP,

DNA -

120 bp 80 bp. -

200 bp.

200 bp, 120 bp 80 bp.

. RT-PCR -

cDNA

PCR

Tsp45I. , mRNA

. , cDNA -

-

(dT). ,

4 cDNA PCR, -

Tsp45I -

. 200 bp

, -

.

120 80 bp,

. -

,

cDNA -

RT-PCR -

DNA.

17.14 James Susan Scott -

.

DNA

DNA

- (.. , ,

). ,

DNA -

Larson. -

Bobby Larson. -

, -

71


72/101

-

DNA .

17.15 . PCR

() DNA- ,

, -

DNA-. ,

VNTR -

() DNA,

-

( bp),

Southern. -

-

-

( DNA -

) .

STR -

,

VNTR .

. PCR - : (1)

STR

DNA

(

-

-

-

) (2) -

DNA -

.

.( ) = (0,112 0,036

0,081 0,195) = 6,369 105

. 1 15.701

, -

.

.( ) = (0,112 0,036

0,081 0,195 0,062 0,075 0,158 0,065

0,067 0,085 0,089 0,028 0,039) = 1,683

1015. 1 5,94 1014 -

,

.

17.20 ,

. -

,

-

DNA

. -

-

. ,

RFLP

-

.

Southern ,

-

. -

in situ . -

, -

-

.

72 17


73/101

.

17.23 .

fru (

cDNA)

BD Gal4p.

-

-

D

Gal4p cDNA

-

Drosophila. ,

(. 17.15). , -

AD BD -

fru

cDNA . -

DNA -

cDNA

.

17.25 RNA

mRNA

(1) northern (

mRNA ,

cDNA -

(2) RT-PCR.

18

18.3 .

25% , , G, C,

6 bp -

(1/4)6 = 1/4.096

8 bp (1/4)8

=1/65.536. ,

ApaI, HindIII, SacI SspI

4.096 bp SrfI NotI

65.536 bp.

. i. -

: (1) -

-

(.. -

-

) / (2)

(.. -

-

-

G-C).

ii. -

-

: (1) -

/ (2) -

.

iii. Mycobacterium

tuberculosis

25% (, , C G),

6 bp -

16

-

8 bp.

,

.

Mycobacterium tuberculosis

G-C

- / -

, -

5--3, 5--3, 5--3 / 5--3

.

SacI -

73


74/101

5-AG-3 5-CT-3,

HindIII, .

.

,

, - ,

. -

-

. , -

4 b Caenorhabditis

elegans, HindIII

1.333 , SrfI 4

.

1.333 ,

. NotI 15 -

.

. -

: E. coli

Apa, SrfI NotI, M. tuberculosis

HindII SspI, A. thaliana C. elegans

NotI S. cerevisiae, D. melanogaster,

M. musculus . sapiens SrfI NotI.

18.4 . -

~30 ,

() (CAG)N. -

32, -

. -

.

.

. -

, (

-

DNA ) PCR.

-

DNA PCR. -

PCR

.

STS , - -

. -

STS -

. -

PCR -

-

-

STS STS -

(.. ).

. 960 8.203 = 7.874.880 PCR.

. (i)

, 96

12 () + 8

(), 20 .

10 200 . (ii)

8.203 STS

200 8.203 = 1.640.600

PCR. (iii) , F, 6. (iv) ,

.

. STS

YAC

YAC . -

YAC

.

18.. -

.

: 2631 63 210

6892 5192 719 6193 991 3097,

4630 552.

. -

.

YAC . -

74 17


75/101

10

: 1, 1,

1 1, 1, 1,

1 1 ., 96

. , -

.

96 + 80 = 176 (176

8.203 = 1.443.728 PCR) -

200

.

18.5 , . FISH

BAC -

.

. -

BAC -

-

FISH

. -

-

.

. - BAC -

-

STS

BAC. -

-

C -

-

STS. -

STS, -

PCR Southern -

STS .

18.7 . 500 (13.543.099 + 10.894.467)

= 1,22 1010 .

. -

2 kb

, -

,

,

,

.

-

5 kb, -

10 kb

.

10 kb

2 kb -

,

. ,

-

.

.

-

-

.

75

YAC (2631 63) (210 6892) 1071 (5192 719) (6193 991) 714 (3087 4630 522) 713

II-6A

IV-C3

X-H9

VII-E12

I-C8

18.A


76/101

18.8 -

.

- , -

. -

,

. -

,

,

. -

, -

-

-

,

-

. ,

-

.

18.9

-

-

.

-

,

,

DNA, - -

.

18.12 . ORF

,

-

.

,

70

35 (TTGACA) 10 (TATAAT)

. -

, ORF,

Shine-Dalgarno(UAAGGAGG) -

.

AUG ( GUG

)

, -

,

(UAG, UAA, UGA), ORF.

. -

-

. -

mRNA. -

,

, -

-

.

.

-

-

-

.

.

. GU 5

, G 3

CURAY

, 18-38

3 .

ORF -

,

-

76 18


77/101

,

-

, -

. , -

, -

ORF

-

. -

,

ORF

.

18.14 . cDNA -

DNA -

,

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, , -

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cDNA -

-

,

.

. cDNA

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.

cDNA

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- EST -

, -

EST -

EST

-

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.

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. -

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(1) -

-

(..

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), cDNA

, (2) -

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(..

-

-

).

, .

18.15

(.. )

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-

-

. -

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.

77


78/101

18.18 DNA

,

DNA -

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DNA. -

,

DNA -

.

DNA

, -

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( + =

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18.19

DNA

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.

.

-

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.

-

-

.

-

.

-

.

DNA.

,

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(-

)

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.

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(knockout) -

.

lod.

-

BAC -

.

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SNP.18.21 .

V . ,

V, -

. -

, -

. , -

V, -

78 18

, ,

,

,

, ,

,

, ,

,


79/101

-

.

.

,

, .

. , -

-

.

19

19.2 -

lac trp

.

- -

DNA. -

Lac, -

lac,

lac.

TrpR, -

trpO

trp.

19.5

lacI lacOc.

19.7 .

-

, -

.. ,

-

-. , -

,

-, -

.

19.9 -

lacI+ lacOc lac+ lac+ lacY/lacI+

lacO+ lac+ lac lacY+ ( -

lacI+,

lacI lacI).

19.11 19..

19.14 CAP,

cAMP,

RNA -

Plac. RNA -

CAP-cAMP -

-

(-

). ,

CAP

lac RNA -

.

19.16 . DN

in vitro

DNA. ,

DNA

,

. , -

DN,

( -

) ., -

-

-

DNA

.

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, -

CAP-cAMP.

79


80/101

. . 19.14.

. i. -

, -

.

ii. 12

10, -

.

-

, -

-,

.

iii. 69

CAP. CAP-cAMP

80 19

- -

. I+ P+ O+ Z+ Y+ + +

. I+ P+ O+ Z Y+ +. I+ P+ O+ Z+ Y +

. I P+ O+ Z+ Y+ + + + +

. Is P+ O+ Z+ Y+

. I+ P+ Oc Z+ Y+ + + + +

. Is P+ Oc Z+ Y+ + + + +

. I+ P+ Oc Z+ Y + +

. Id P+ O+ Z+ Y+ + + + +

.I P+ O+ Z+ Y+

I+ P+ O+ Z Y + +

.I P+ O+ Z+ Y+

I+

P+

O+

Z

Y

+ +

.Is P+ O+ Z+ Y

I+ P+ O+ Z Y+

.I+ P+ Oc Z Y+

I+ P+ O+ Z+ Y + + +

.I P+ Oc Z+ Y

I+ P+ O+ Z Y++ + +

.Is P+ O+ Z+ Y+

I+ P+ Oc Z+ Y++ + + +

.

Id P+ O+ Z+ Y

I+ P+ O+ Z Y+ + + + +

.I+ P Oc Z+ Y

I+ P+ O+ Z Y+ +

.I+ P O+ Z+ Y

I+ P+ Oc Z Y+ + +

.I P O+ Z+ Y+

I+ P+ O+ Z Y

.I P+ O+ Z+ Y

I+ P O+ Z Y+ +

19.A


81/101

CAP, RNA

-

.

iv. +28 - Shine-Dalgarno. , ,

,

--

, ,

-

.

v. +9 -

. , -

-

(

cis- ),

-

( ).

. -

.

19.19 trp ,

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. -

-

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-

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(. 19.17). -

Trp --

, RNA RNA -

, ,

.

Trp -

, -

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.

-

-

.

trp ,

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Trp-tRNATrp,

Trp -

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, -

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trp -

Trp,

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.

,

, trp

.

.

19.20 1:

, -

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. - .

,

. , -

,

,

.

81


82/101

2: trp

, 2 -

-

1.

3: trp trp(.

19.15).

,

trp trp, -

. , -

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, 3

.

,

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4: Trp-tRNATrp

trp. , Trp-tRNATrp -

, -

trp

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, 4 -

-

,

.

,

4 -

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-

3 4 ( 19.17)

, -

.

-

4.

19.24 cI -

. -

cI

, -

.

19.26

20 -

-

20.2 ,

-

-

-

. -

5trans-

82 20

-

-

-

-

-

-

UV

1

2

3

4

5

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-

DNA.

p

.

cII

.

pQ .

PRM -

-

RNA

.


83/101

( RNA-

), 3

, -

. , -

, -

-

.

20.5 . 4 kb

-

DN I, -

DNA

DN I. DN I

2 kb, -

4 kb EcoRI.

3 kb

DN I -

,

3 kb

EcoRI -

.

. , -

DN I

, 4 kb 3 kb,

DN I -

. -

DN I

EcoRI -

3 kb 4 kb. -

, - .

20.7 . -

, DNA

-

.

. -

.

.

,

.

. -

-

. , -

.

20.9 rRNA

rRNA. ,

rRNA -

.

, -

mRNA. mRNA -

-

-

.

20.11

-

,

. , -

(1) ,

-

-

, (2) -

mRNA , (3) mRNA

, (4)

mRNA , (5)

mRNA

, (6)

mRNA -

, (7)

( ) .

83


84/101

mRNA

.

20.16 . X, -

- CGG -

. Huntington,

-

CAG,

,

huntingtin, -

, .

.

CGG

FMR-1 -

-

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. ( -

,

X -

, , ,

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.) , CAG

Huntington

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,

.

.

-

CGG . , -

huntingtin -

36 .

20.20 . , -

mRNA

.

. , -

-

mRNA.

. -

mRNA

,

ChAT/VAChT

mRNA. , -

mRNA -

,

mRNA. -

mRNA

, -

.

. -

-

ChAT VAChT:

mRNA -

. -

3

mRNA . -

,

AUG.

20.21 . -

.

. cDNA -

mRNA. , -

5 :

cDNA 4 5 -

cDNA 1, 2 3.

cDNA 1 5

cDNA 2 3. ,

cDNA 2 5

cDNA 3.

84 20


85/101

21

21.3 -

-

.

-

. -

. ,

-, -

-

. ,

, -

. ,

. , -

-

. , -

-,

,

, .

, -

,

.

21.6 . Wilmut

,

-

. ,

, (

G0 ). -

-

, -

.

,

. -

, .

.

, - -

-.

, DNA

. ,

. ,

.

. B -

-

. -

, -

-

.

. -

-

-

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,

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-

.

-

-

.

.

.

.

21.13 -

DNA .

85


86/101

-

DNA .

-

-.

-

DNA. -

-

RNA.

-

. -

-

RNA

.

.

RNA D

-

, -

3H- RNA

-

.

.21.17 . ,

gfp.

. -

. -

Xic, -

X -

Xic.

X

Xic. X,

gfp .

. Xist -

. , X gfp

,

Xic .

Xist RNA

,

H3.

-

Xic.

21.18 . X:A

X (sis-a, sis-b,

sis-c) -

(dpn).

-

. X:A 2:2,

,

. -

Sxl PE.

X:A 1:2,

, -

Sxl. , Sxl PE -

X:A -

SXL

.

. PE -

SXL X:A 2:2.

86 21


87/101


88/101

(

). -

Southern

FeSV -

. cDNA fes- 1,2 kb -

DNA

, -

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