6.

( )

1. (.
,
,
)

-
2.

 :
:
1.
2. ()
3. ()

:
1. ( )
2. ( )

 :
1. (

)
2. ( )
:
1.
2.

1.
- ()
-
-

2.
- ,

-


:
1. (-)
2. (-)



(point) (GC-AT)
:

10 11 12 13 14 15

10 11 12 13 14 15

T ( AT GC)
( , )
5`.. C A T C A T A T C A T C A T ..3`
3`.. G T A G T A T A G T A G T A ..5`

5`..

C A T C A T G A T C A T C A T ..3`
3`.. G T A G T A C T A G T A G T A ..5`

T ( CG GC)
( , )
5`..

C A T C A T C A T C A T C A T ..3`
3`.. G T A G T A G T A G T A G T A ..5`

5`..

C A T C A T G A T C A T C A T ..3`
3`.. G T A G T A C T A G T A G T A ..5`

 :
1. (missens)
2. (nonsens)
: UAA, UAG, UG
3.
/

4. - /

 (missense)
5`...... T C T C A A A A A T T T A C G 3`......
3`...... A G A G T T T T T A A A T G C 5`......
..........

Ser

Gln

Lys

Phe

Thr

..........

5`...... T C T C A A G A A T T T A C G 3`......
3`...... A G A G T T C T T A A A T G C
..........

Ser

Gln

Glu

Phe

Thr

5`......
..........

 (missense)
S -

(ss - )

 (nonsense)
UAA, UAG, UG
5`...... T C T C A A A A A T T T A C G 3`......
3`...... A G A G T T T T T A A A T G C 5`......
..........

Ser

Gln

Lys

Phe

Thr

..........

5`...... T C T C A A T A A T T T A C G 3`......
3`...... A G A G T T A T T A A A T G C
..........

Ser

Gln

STOP

5`......


/

5`...... T C T C A A A A A T T T A C G 3`......
3`...... A G A G T T T T T A A A T G C 5`......
..........

Ser

Gln

Lys

Phe

Thr

..........

5`...... T C T C A A T A G T T T A C G 3`......
3`...... A G A G T T A T C A A A T G C
..........

Ser

Gln

Lys

Phe

Thr

5`......
..........


/

5`...... T C T C A A A A A C T T A C G 3`......
3`...... A G A G T T T T T G A A T G C 5`......
..........

Ser

Gln

Lys

Leu

Thr

..........

5`...... T C T C A A T A G A T T A C G 3`......
3`...... A G A G T T A T C T A A T G C
..........

Ser

Gln

Lys

Ile

Thr

5`......
..........



1. (

- 4 . 15)
2. (
- 3 . 7)
Frameshift -
:

10

11

12

13

14

15

C A T C A T C A T C A T C A T
G T A G T A G T A G T A G T A

C A T C A T G C A T C A T C A T
G T A G T A C G T A G T A G T A
1

10

11

12

13

14

15

16

10

11

12

13

14

15

C A T C A T C A T C A T C A T
G T A G T A G T A G T A G T A

C A T C A C A T C A T
G T A G T G T A G T A G T A
1

T
A

10

11

12

13

14

FRAMESHIFT
()
5`...... T C T C A A A A A T T T A C G 3`......
3`...... A G A G T T T T T A A A T G C 5`......
..........

Ser

Gln

Lys

Phe

Thr

..........

5`...... T C T C A A G A A T T G

3`......

3`...... A G A G T T C T T T A A A T G C

5`......

..........

Ser

Gln

Glu

Ile

Tyr

..........


Arg - Ile Ser Tyr Gly Pro - Asp
CGT ATA TCC TAT GCC CCT GAC

CGT ATA TCT ATC CTA TGC CCC TGA

Arg - Ile Ser - Ile Leu Cys Pro-Stop

TAY
SACHS
ALEL hr.15

4



FRAMESHIFT
A

Ile Ile Phe Gly - Val

T ATC ATC TTT GGT GTT

. 7

T ATC AT- - - T GGT GTT

Ile Ile - - - Gly - Val
F508

 :
1. /
2.
3.
4.

:


- CGG, GAA, CAG, CTG

:
1. CAG

-
-

2. (
) - CGG
- 1-50
- ( ) 51-220

- ( )


)
:
1.

2. ( ) uvr- ()

gap
rec A

 :
- (
)
Xeroderma pigmentosum -
( )
Bloomov sindrom - (
)

 ()

Xeroderma pigmentosum

Bloomov
()

SCE

-
-


1949.
.

(G2 S )
(G1 ) .

(
).

, . ,
.

 :
1.
) :
- ,
-
) :
- - ,
- ,
- ,
- ,
- ,
-

2.

-
( )

5- G
2- - G
-

( ., -)
- C U,
- G - (
C,

, ),
- -
C

-
-
-
- ;
(frameshift)
-
-
-

, ,

, (123, 221-226, 250-251, 320322, 338-341...)

(, , , )
. (

 :
1.
2.

 - UV
1.
2.
3.
4.

5.

-

( )
-
( =)


- -

-

:
- ( ,
- 4-5 Gy,
100 Gy, 500 Gy, 1000 Gy)
-
-


:
1.

2.

3.

( )

- O2

-




- -

-
-

-
-


( )
( ).

 :
1.
2. -
3. ,


,
:
,
,
,
( , )
,
,
,
.


,



+4 -20




.
:
,

.

PCR
(PCR-polymerase chain reaction)

,

 PCR :
,
,
Taq ,
,
,

 PCR :
25-40 ,
3 :

(
)

(aniling)

(extension) (
3`

)


http://www.dnalc.org/view/15507-The-cycles-o

f-the-polymerase-chain-reaction-PCR-3D-anima
tion-with-no-audio-.html

()

 PCR-a

1.

2.

: ,

3.


:
( CAG )