, , :
1) - . , , . . , 360 , . , , , .
2) , , . .
3) - ; . 1 -.
4) , . - ;
5) - - , ;
6) ;
7) - , , . - . 80-85% . 15-20% (.1 2).
1. :
TSC1 | TSC2 | |
9q34 | 16p13.3 | |
55 kb | 44 kb | |
23 (21 ) | 42 (41 ) | |
8,6 kb (4,5 kb 3` UTR) | 5,4 kb | |
1164 (130 kD) | 1870 (180 kD) | |
12-19% | 65-70% | |
. , . | . , . | |
. - . . . | , -. , PKD1 . . |
|
|
2. - .
% , 1 | ||||
TSC1 | ~19% | ~30% | ~15% | |
/2 | ~0.5% | |||
TSC2 | ~60% | 50% | ~60%-70% | |
/ | ~0.5% | ~5% |
, , . , , . , , , . , , , (, ).
, , ( ). , TSC1 TSC2 .
:
― 10 12, 22 24, 32 34 ;
― , ( ), .
TS , - . , , . 21 , .
( / ) . , 15 18 , (chorionic villus sampling ― CVS, .), 10 12 . TS .