4

2n=46

44 2

Y


1q21.1

 - ,
.


.

()

.

(b)

( ,
).
46,XY 46,XX


-


?






 4 ( 2)

,
,

 Add a few Add phytohemagglutinin
drops of blood. to stimulate mitosis.

Draw 10 to 20 ml
of blood.
Incubate at 37C
for 2 to 3 days.

Transfer to tube Transfer Add Colcemid to

containing fixative. cells to tube. culture for 1 to 2
hours to stop mitosis
in metaphase.
Centrifuge to
concentrate cells. Add
low-salt solution to
eliminate red
blood cells and
swell lymphocytes.

Drop cells onto

microscope slide.

Examine with Digitized

microscope. chromosome
Stain slide images processed
with Giemsa. to make karyotype.
47,XY,+21


. -
.
G,Q,R,C,T G, R


FISH, mFISH
XY
SKY
CGH

, 50-
.

,
60- (G, R, Q ).

FISH - , 90-

.

1.
(!!!
)
 2. in vitro

37 C


72

72 ore

 3.

4.

 5.

-
;

- ;

-
.


-

.
-

.
-
G, Q, R, T, C
-
,

,



G Q R C T
 ,
-

Casperson et
Q al.,1970 - ()

Summer et al.,
G 1971 ()

()
Dutrillaux,
R Lejeune, ()
1971
()
Pardue, Gaal, -
C 1970

Dutrillaux, 1973
T


Metaphase chromosomes
Karyotyped chromosomes

(
G-)


*** :
- 300-400
- 550
- 850
-

FISH (Fluorescence in situ Hybridization)

PRINS (Primed in situ Labeling)
Revers-painting (
)
SKY
 :
,
.
- : ,
,
, -

:
FISH
1. -
2.

3.

4. ,
.
5.
.
FISH-

 4 .X 18 . X, Y 18

. 18 21 . 18 21
37
46,XX 47,XX,+21

47,XX,+21 47,XX,+21
Alpha satellite centromere probes
FISH Telomere Chromosomes
Locus Specific Probes
mFISH
SKY
:
-
,
-

,

.
:
-
,






/







C, T, -
.

46


,


(300 )


Y

!!
 153 . .. (5%

2,5% - );

;
1,7%

;

1336 , :
-

-

-

 Y
58 .. (0,38% );

307 , :
-
-
-
-

2/3

 Y
I (PAR)
- Xpter
- Ypter
II X ,
X

III Y

IV Y (2/3Yq)



 :
- PAR (22-pter);

Y:
- PAR (Yp13-pter)
 :
46,XX :
22 ;
+
Xpter
46,XY :
22 ;
X + Y
(Ypter) + . Y (Yp 1/3Yq)

: ,

!!!
 (1908 1995)
1948
, ,
-

. 1961
:

X,

16-

,

,


X

 , -
, . -
, -
, .

-
. .


(XIC)
Xist
Tsix
 XIC
2003 (Rougeulle et al.)
Xq13
12 , :
- 7 ,
- 5
2
(Xist, Tsix)
 Xist - X inactivation specific transcript
X q13 (450 Kb)
5' :
;
- XIST

.

17 Kb,
;
3' -
( )

 XIST

-XIST;
X
XIST
H1
X
X-


 Tsix
Tsix
Xist.

Xist
RNA-

.

,
Xist- ,

.


,









:

45, 46,

46, 47, 1
47,48, 2

( )

( )

,
,
,
.
 Y
( F)
- 2/3 Y
-
(
)
- , 0,25m,
- F Y

:
- Y,
- .
48,XXXY 45,X 50,XXXXYY 49,XXXXX
Test Barr

XXX X XXXX XXXXX

Test F

Y YY
 !