Professional Documents
Culture Documents
,,
, 2012
1. ...............................................................................................2
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5. ...............................................10
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7. .........................................................................................13
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mutare-,
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.
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2
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2.
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3.
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.
(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.
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.
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.
, : 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 .
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16 (ipZ ipa1)
: Z,
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6
a-. 11
(ipP1). (Gy,
Ay, , ) - .
600
.
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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
,
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, 145 - , UAU UAC
(Tyr), STOP UAA UAG ( - 146 ).
(.. McKees Rocks )
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, a-
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, 17
-. AAG (Liz)
8
STOP UAG. ,
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.
, VIII ( )
( )
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5.
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de novo
() ( : Apertov ,
B .)
.
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.
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,
.
(,
). : acrodystostosis, achondroplasia,
, cleidocranial dystosis, , fibrodysplasia ossificans
10
progresiva, , ,
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11
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a-,
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a- ,
.
. (. frameshift mutation)
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Wayne , 138
(UCU) a- .
a-
138 , ,
STOP 142 (UAA)
(AAG), STOP (UAG) 147
.
12
:
.
:
- -
,
Watson Crick
.
NH2 , -,
- --.
. , , ,
. , - NH2 -> NH. , -
--.
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.
13
14