, - . CFTR ( ), , / .
:
CFTR (cystic fibrosis transmembrane conductance regulator), ABC ( ATP-binding cassette). CFTR - Cl- , .
CFTR (, , , , , , .). CFTR . CFTR , , . , ., .
CFTR del21kb, delF508, delI507, 1677delTA, 2143delT, 2184insA, 394delTT, 3821delT, G542X, W1282X, N1303K, L138ins, R334W, 3849+10kbc->T 75% , . del F508. 55%. CFTR 700 , . -.
:
: .
: (2 - 3 ), .
: .
: 19 .
:
1:5000 .
CFTR 1:30 .
- - . / . . . . . .- .: , 2005.- 392 .
- OMIM *219700 http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=219700