You are on page 1of 15

:

,,

, 2012

1. ...............................................................................................2
2. ................................................................................4
3. ..................................................................4
4. .....................................5
5. ...............................................10
6. ....................................................................11
7. .........................................................................................13
8. ...................................................................14

mutare-,
.

.
,
.

. .

.
. .
,
.
10~5,
.. 100 000 .
:
1.
.
2. -> ->,
.

,

:
2

( "; ")-
,
( "; ")-
, .

, ,
,

,
.

2.
,
,

.
, .

"
:

- ;
- ;
- .

3.
.

.
(C->T T->C),
(A->G G->A). , ,
G=C A=T, .
. (A>C, G->C, A->T G->T) , (C>A, T->A, C->G T->G). ,
A=T C=G, T=A A=T G=C,
G=C A=T, C=G A=T G=C.
.

4.

.
"
.
.
, ..
, .

.

, : GTC () ->TTC ().
5

. ,
, : AAG
() ->TAG ( ).
.
,
. , CCU
() (CCC, CCA CCG)
: UCU (Ser), ACU (Thr), GCU (Ala), CUU (Leu), CAG (His), CGU
(Arg). 61 9 = 594
.

,
.
,
.

70%
. ,
, ( 90%)
.

a .
,
.
a
, . a-
16 (ipZ ipa1)
: Z,
, a1 a2
6

a-. 11
(ipP1). (Gy,
Ay, , ) - .
600
.

-.
GAA GAG (Glu)
GUA GUG (Val).
(Glu) (Val), ,
S (HbS),
()
.

,

.
.
HbS
S.
..
- ,
GAA GAG (Glu)
AAA AAG (Lys).
STOP
STOP .
STOP ,
.
7

STOP ,
,
.

a
. a-
a- ,
. a- 141
. , STOP UAA 142
(CAA), (AAA), (GAA), (UCA),
a- , 172
,
.
.
, 145 - , UAU UAC
(Tyr), STOP UAA UAG ( - 146 ).
(.. McKees Rocks )
. . ,

( )
.

-. .. -, -
, a-

. -,
, 17
-. AAG (Liz)
8

STOP UAG. ,
, - .


.
, VIII ( )
( )
.
. .

5.

.

.

.

. , .
de novo
() ( : Apertov ,
B .)
.

?

.

. ,

.
, .. ,
,
.

(,
). : acrodystostosis, achondroplasia,
, cleidocranial dystosis, , fibrodysplasia ossificans
10

progresiva, , ,
, .

6.

, ,
,
,
.
" (. gaps).
, ,
.
. .
.. -
. ,

, .
.

. .
,

, .
. .
,
11

,
.
, a-,
a- . 16
a-,
a- . ,

a- ,
.


. (. frameshift mutation)
, ,
. ..
Wayne , 138
(UCU) a- .
a-
138 , ,
STOP 142 (UAA)
(AAG), STOP (UAG) 147
.

12

:

.
:

- -
,

Watson Crick
.
NH2 , -,
- --.
. , , ,
. , - NH2 -> NH. , -
--.
,
,
,
, . ,
, ,
,
.
.

13

1. Kii M, Krajinani B. Medicinska genetika. Defektoloki Fakultet Univerziteta u


Beogradu, Beograd, 1994.
2. Tuci N, Mati G. O genima i ljudima. Centar za primenjenu psihologiju, Beograd,
2002.
3. H. . , , 1998.
4. Remoin DL, Connor JM, Pyeritz RE. Emery and Rimoin's principles and practice of
Medical Genetics. Vol I, Third edition, Churcill Livingstone, New York, 1997.
5. Mutatins (http://www.biology-online.org/2/8_mutatins.htm)
6. Mtatinon Frequency and Poliploidy (http://www.biology_online.org/2/9_mutations.htm

14

You might also like