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.

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.
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:
lysine, arginine, histidine :
aspartic acid, glutamic acid :
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 :

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semi conservative
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DNA Polymerase .DNA - .'3


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primer
primer -
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polymerase
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helicase
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nuclear lamin - , , .

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.
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cohesin
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Origin Recognition Complex DNA -
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CDK inhibitor
.
proteins
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MPF
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snurps .
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wobble
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) (.
synthetase
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(rRNA 3 , ) 33 rRNA ,( .
mRNA - ,
. .
mRNA .

tRNA -
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transferase
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stop

 :
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Signal sequence
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SRP receptor - .RER -
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sequence
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) ( PGS . .
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transport
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vesicle
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Target SNARE SNARE - .
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budding
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COP2
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KDEL

4 .RER - RER

 '
M6phosphate

M6Preceptor

Zipper
Mechanism

Receptor
Mediated
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Non-coated
vesicels
LDL

Constitutive
secretory
pathway
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secretory
pathway
PTH

Pseudopod

Early endosome
Late endosome

' , Cis Golgi - -

ER .Cop1
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.
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.

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claudin
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tight junction adhesion belt - tight junction -
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.
.

.
, .
. , .
.
,

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communicating junction -
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cyclase
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messenger
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, ,
. ,
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.
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cAMP phosphodiestrase cAMP - AMP.
.

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NGF
EGF
PDGF

growth factor
tyrosine kinase
receptors

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SH3
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MAP-kinase

.
,
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enzyme linked receptor - ,
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. , .
RAS - ,GTP -
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. ,
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,
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.
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, .
Basal lamina .Type 4 Basal lamina -
. .

.Basal lamina - .
) (Basal lamina - .
) (A B1 B2 - ) (
) , ( . ) (.
,.

.1 .2 . .3 . ,-
adhesion belt ) in situ( .4 .
, .5 .
.
. ,

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Focal
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. .
.

) (.
.

Carcinoma in
situ
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carcinoma
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.
,

/ .1 :

.2 . .3 . .

. ,
"
.
"

 - .
Benign
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.
.
Malignant
, .

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) (
Sarcomas


Oncogenes . ,

/ . )
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,((EGF-R, NEU-R ,GF -
) .(RAS proliferation genes
," .

, .
.EGF - )(
EGF-R
, ,
. ,
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BRAF
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HER2
.
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) ,(Her2
Gene
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rearrangement(.
) (

) ( .
22 .9

.bcr-abl

abl

Bcr
.
BCR-abl
abl ; ,
, .
Chronic Myelogenous Leukemia
CML
. ,
. chronic phase, accelerated phsase, :
.blast phase , ,.
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Tumor
) (
Suppressor
) .
Genes
( . .
. , .
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model
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P53

Herceptin
VEGF
Avastin

Gleevec

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.
.antiproliferation genes tumor
suppressor genes .
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Rb - .G1 Checkpoint - Rb -
) (E2F .DNA -
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) Rb ( ,DNA -
.
. . DNA - , p53 -
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G2, P53 - . p53 -
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blast - ) .(Gleevec -
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.

. . default- ,
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.

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pathway
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pathway
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.initiator caspases .caspase cascade -

. .
Bcl2
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.
Bcl2 C.

, .BCl2

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.
.
.NGF NGF -
Survival
.
factors
.

Recapitulation

C elegnas
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.
) , , ,(

Xenopus laevis
Zebrafish
Chick

Antennapodia
Piebaldism
KIT
Cell biology
Cellular
biology and
Genetics
Embryology
Fertilization
Cleavage
Gastrulation
Organogenesis

Morula
Blastula
Blastocoel
Blastoderm

Germ Cell

. . .
. .
. , .
.
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.
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. .KIT
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.
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,
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cleavage - .morula
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3 .
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, , , .

, , ,.
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.
Notochord . ,
Nueral tube -

Neural tube
Nueral crest
Neural plate
Organogenesis
Somites
Yolk
Cell fate
Cell
determination

-totipotinet

-mutipotent

differentiation
Nuclear
tranplnation

Embryonic
induction

Organizer,
dorsal
blastopore lip
Secondary
induction event
Wnt
Cell diversity

Short-range
induction
) long
range
(induction
Cell migration
Cell adhesion

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, , .
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.
.
induction .

.
,
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.
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.
. .
.
,
.
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. .
. .

.
, ) (
. .

P
F1
F2
Cross
Hybrid
Monohybrid
cross
Pure line
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" "

)(co-dominant
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Multiple Genes
Dihybrid cross
Polygenes
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advantage
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)(
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.
. .
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.
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.
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.
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) ,(AA
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. )R1R
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,
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, .

, 2
. -B
b , . E .



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Pleiotrophy
Tuberous
Sclerosis
Genetic
Heterogeneity

P
Q

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B -(
"" .E
.B
.
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) (.
. ; , ,
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)( . , , ,
. ,
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.
.
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.
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.
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.
) 13,14,15,21,22 . ,
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. = 23 )(.
. 21 3 .21
.
. 46 , 4
23 . :
. .

. 23
) 2(.
.
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.
:
.

Euploid
Aneuploid

21
18
13

Pedigree

Huntington

-
Penetrance
Expressivity

PKU

. .
).(Maternal Ist Meiosis
. ) ' (
, .
)(Maternal/Paternal IInd meiosis

. .Aneuploid
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; , ,
92% .
.
Edwards Syndrome . , ,
.
Patau syndrome . 18%
.
XYY .XXY
. , . .
. . ,
/ . .
.
. ,50 .
. :
, . ,.
.
.
) (30%.
.
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.
.
. ,
. .
.
Phenylketonuria .
.
) ,
(

X Y - XX . XY ..

X - .

X .X -

 ) (.

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X - . 50% . ,
) , ( .
) ,
Y X(.
X .
X inactivation
. )/( .
concept
X
.
,
) ( .
.X - 50% X - .
.
X - . barr body - X -
Barr body
.1
.X -

X . .
. .D

 Signal transduction .
Signal transduction .
" .
." .
:
. " ) ( , "
.
.
. .
.
) (Contact-Dependent .
.
;
. .
...
. .
, . ,
.
. ,.
,
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transform .

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.
.
) (.
Vesicular transport :
ER -' ,
, .
.
) (coated vesicles
.
. '
) .(.
, .
?

 .
cargo receptors .
.
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, .
. ?
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t-SNARE SNARE - .
v-SNARE , t-SNARE -
.
) v-SNARE - (t-SNARE - .
,
. " " ,
v-SNARE - t-SNARE - )
(.
:
.
) early endosome - ( ) late endosome -
( . ) (ph 5-6 " )
.(ATP .
:

.1

.2

.3
.
.

.ER - ER -' , )manose 6-
.(phosphate Trans golgi - mannose 6-phosphate receptor - .
.late endosome -